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2. Performance of Fully-Automated High-Throughput Plasma Biomarker Assays for Alzheimer’s Disease in Amnestic Mild Cognitive Impairment Subjects

Author

Giuffrè, G. M., Quaranta, Davide, Vita, Maria Gabriella, Costantini, Emanuele Maria, Citro, Salvatore, Carrozza, Cinzia, De Ninno, Grazia, Calabresi, Paolo, Marra, Camillo, Quaranta D., Vita M. G., Costantini E. M., Citro S., Carrozza C. (ORCID:0000-0003-1045-0470), De Ninno G., Calabresi P. (ORCID:0000-0003-0326-5509), Marra C. (ORCID:0000-0003-3994-4044), Giuffrè, G. M., Quaranta, Davide, Vita, Maria Gabriella, Costantini, Emanuele Maria, Citro, Salvatore, Carrozza, Cinzia, De Ninno, Grazia, Calabresi, Paolo, Marra, Camillo, Quaranta D., Vita M. G., Costantini E. M., Citro S., Carrozza C. (ORCID:0000-0003-1045-0470), De Ninno G., Calabresi P. (ORCID:0000-0003-0326-5509), and Marra C. (ORCID:0000-0003-3994-4044)

Abstract

IntroductionNovel plasma biomarkers are promising for identifying Alzheimer's disease (AD) pathological processes in vivo, but most currently employed assays have limitations precluding widespread use.MethodsCSF and plasma samples were collected from seventy amnestic mild cognitive impairment (aMCI) subjects, stratified as A+ and A-. CSF A beta 40, A beta 42, p-tau181 and t-tau and plasma A beta 40, A beta 42 and p-tau181 quantification were conducted using the Lumipulse G assays (Fujirebio), to evaluate the diagnostic performance of plasma biomarkers and assess their associations with CSF biomarkers.ResultsAll plasma biomarkers except A beta 40 showed a very good accuracy in distinguishing A+ aMCI from A- aMCI, A beta 42/p-tau181 ratio being the most accurate (AUC 0.895, sensitivity 95.1%, specificity 82.8%). Plasma biomarkers levels were significantly associated with CSF biomarkers concentration.DiscussionHigh-throughput and fully-automated plasma assays could be helpful in discriminating with high accuracy between aMCI in the AD continuum and aMCI unlikely due to AD in clinical settings.

Published
2024

5. The Italian dementia with Lewy bodies study group (DLB-SINdem): toward a standardization of clinical procedures and multicenter cohort studies design

Author

Bonanni, L., Cagnin, A., Agosta, F., Babiloni, C., Borroni, B., Bozzali, M., Bruni, A. C., Filippi, M., Galimberti, D., Monastero, R., Muscio, C., Parnetti, L., Perani, D., Serra, L., Silani, V., Tiraboschi, P., Padovani, A., Alberici, A., Alberoni, M., Amici, S., Appollonio, I., Arena, M.G., Arighi, A., Avanzi, S., Bagella, C.F., Baglio, F., Barocco, F., Belardinelli, N., Bonuccelli, U., Bottini, G., Bruno Bossio, R., Bruno, G., Buccomino, D., Cacchiò, G., Calabrese, E., Campanelli, A., Canevelli, M., Canu, E.D.G., Cappa, A., Capra, C., Carapelle, E., Caratozzolo, S., Carbone, G.F.S., Cattaruzza, T., Cerami, C., Cester, A., Cheldi, A., Cherchi, R., Chiari, A., Cirafisi, C., Colao, R., Confaloni, A., Conti, M.Z., Costa, A., Costa, B., Cotelli, M.S., Cova, I., Cravello, L., Cumbo, E., Cupidi, C., De Togni, L., Del Din, G., Del Re, M.L., Dentizzi, C., Di Lorenzo, F., Di Stefano, F., Dikova, N., Farina, E., Floris, G., Foti, A., Franceschi, M., Fumagalli, G.G., Gabelli, C., Ghidoni, E., Giannandrea, D., Giordana, M.T., Giorelli, M., Giubilei, F., Grimaldi, L., Grimaldi, R., Guglielmi, V., Lanari, A., Le Pira, F., Letteri, F., Levi Minzi, G.V., Lorusso, S., Ludovico, L., Luzzi, S., Maggiore, L., Magnani, G., Mancini, G., Manconi, F.M., Manfredi, L., Maniscalco, M., Marano, P., Marcon, M., Marcone, A., Marra, C., Martorana, A., Mascia, M.G., Mascia, V., Mauri, M., Mazzei, B., Meloni, M., Merlo, P., Messa, G., Milia, A., Monacelli, F., Montecalvo, G., Moschella, V., Mura, G., Nemni, R., Nobili, F., Notarelli, A., Di Giacomo, R., Onofrj, M., Paci, C., Padiglioni, C., Perini, M., Perotta, D., Perri, Formenti A., Perri, R., Piccininni, C., Piccoli, T., Pilia, G., Pilotto, A., Poli, S., Pomati, S., Pompanin, S., Pucci, E., Puccio, G., Quaranta, D., Rainero, I., Rea, G., Realmuto, S., Riva, M., Rizzetti, M.C., Rolma, G., Rozzini, L., Sacco, L., Saibene, F.L., Scarpini, E., Sensi, S., Seripa, D., Sinforiani, E., Sorbi, S., Sorrentino, G., Spallazzi, M., Stracciari, A., Talarico, G., Tassinari, T., Thomas, A., Tiezzi, A., Tomassini, P.F., Trebbastoni, A., Tremolizzo, L., Tripi, G., Ursini, F., Vaianella, L., Valluzzi, F., Vezzadini, G., Vista, M., Volontè, M.A., On behalf of DLB-SINdem study group, and Istituto Superiore di Sanità

Published
2017
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7. Letter to the Editor. Exploring cognitive functions in low-grade glioma surgery

Author

Maria Della Pepa, G., D'Alessandris, Q. G., Burattini, B., Quaranta, D., Sturiale, C. L., Mattogno, P. P., Pallini, R., Olivi, A., D'Alessandris Q. G. (ORCID:0000-0002-2953-9291), Burattini B., Quaranta D., Sturiale C. L. (ORCID:0000-0002-4080-2492), Mattogno P. P., Pallini R. (ORCID:0000-0002-4611-8827), Olivi A. (ORCID:0000-0002-4489-7564), Maria Della Pepa, G., D'Alessandris, Q. G., Burattini, B., Quaranta, D., Sturiale, C. L., Mattogno, P. P., Pallini, R., Olivi, A., D'Alessandris Q. G. (ORCID:0000-0002-2953-9291), Burattini B., Quaranta D., Sturiale C. L. (ORCID:0000-0002-4080-2492), Mattogno P. P., Pallini R. (ORCID:0000-0002-4611-8827), and Olivi A. (ORCID:0000-0002-4489-7564)

Abstract

N/A

Published
2021

8. Behavioral and psychological effects of coronavirus disease-19 quarantine in patients with dementia

Author

Cagnin, A, Di Lorenzo, R, Marra, C, Bonanni, L, Cupidi, C, Lagana, V, Rubino, E, Vacca, A, Provero, P, Isella, V, Vanacore, N, Agosta, F, Appollonio, I, Caffarra, P, Pettenuzzo, I, Sambati, R, Quaranta, D, Guglielmi, V, Logroscino, G, Filippi, M, Tedeschi, G, Ferrarese, C, Rainero, I, Bruni, A, Cagnin A., Di Lorenzo R., Marra C., Bonanni L., Cupidi C., Lagana V., Rubino E., Vacca A., Provero P., Isella V., Vanacore N., Agosta F., Appollonio I., Caffarra P., Pettenuzzo I., Sambati R., Quaranta D., Guglielmi V., Logroscino G., Filippi M., Tedeschi G., Ferrarese C., Rainero I., Bruni A. C., Cagnin, A, Di Lorenzo, R, Marra, C, Bonanni, L, Cupidi, C, Lagana, V, Rubino, E, Vacca, A, Provero, P, Isella, V, Vanacore, N, Agosta, F, Appollonio, I, Caffarra, P, Pettenuzzo, I, Sambati, R, Quaranta, D, Guglielmi, V, Logroscino, G, Filippi, M, Tedeschi, G, Ferrarese, C, Rainero, I, Bruni, A, Cagnin A., Di Lorenzo R., Marra C., Bonanni L., Cupidi C., Lagana V., Rubino E., Vacca A., Provero P., Isella V., Vanacore N., Agosta F., Appollonio I., Caffarra P., Pettenuzzo I., Sambati R., Quaranta D., Guglielmi V., Logroscino G., Filippi M., Tedeschi G., Ferrarese C., Rainero I., and Bruni A. C.

Abstract

Background: In March 2020, the World Health Organization declared a global pandemic due to the novel coronavirus SARS-CoV-2 and several governments planned a national quarantine in order to control the virus spread. Acute psychological effects of quarantine in frail elderly subjects with special needs, such as patients with dementia, have been poorly investigated. The aim of this study was to assess modifications of neuropsychiatric symptoms during quarantine in patients with dementia and their caregivers. Methods: This is a sub-study of a multicenter nation-wide survey. A structured telephone interview was delivered to family caregivers of patients with diagnosis of Alzheimer disease (AD), dementia with Lewy bodies (DLB), frontotemporal dementia (FTD), and vascular dementia (VD), followed regularly at 87 Italian memory clinics. Variations in behavioral and psychological symptoms (BPSD) were collected after 1 month since quarantine declaration and associations with disease type, severity, gender, and caregiver’s stress burden were analyzed. Results: A total of 4,913 caregivers participated in the survey. Increased BPSD was reported in 59.6% of patients as worsening of preexisting symptoms (51.9%) or as new onset (26%), and requested drug modifications in 27.6% of these cases. Irritability, apathy, agitation, and anxiety were the most frequently reported worsening symptoms and sleep disorder and irritability the most frequent new symptoms. Profile of BPSD varied according to dementia type, disease severity, and patients’ gender. Anxiety and depression were associated with a diagnosis of AD (OR 1.35, CI: 1.12–1.62), mild to moderate disease severity and female gender. DLB was significantly associated with a higher risk of worsening hallucinations (OR 5.29, CI 3.66–7.64) and sleep disorder (OR 1.69, CI 1.25–2.29), FTD with wandering (OR 1.62, CI 1.12–2.35), and change of appetite (OR 1.52, CI 1.03–2.25). Stress-related symptoms were experienced by two-thirds of caregiv

Published
2020

9. Corticomotor Plasticity Predicts Clinical Efficacy of Combined Neuromodulation and Cognitive Training in Alzheimer’s Disease

Author

Brem, A. -K., Di Iorio, R., Fried, P. J., Oliveira-Maia, A. J., Marra, C., Profice, P., Quaranta, D., Schilberg, L., Atkinson, N. J., Seligson, E. E., Rossini, P. M., Pascual-Leone, A., Di Iorio R., Marra C. (ORCID:0000-0003-3994-4044), Profice P., Quaranta D., Rossini P. M. (ORCID:0000-0003-2665-534X), Brem, A. -K., Di Iorio, R., Fried, P. J., Oliveira-Maia, A. J., Marra, C., Profice, P., Quaranta, D., Schilberg, L., Atkinson, N. J., Seligson, E. E., Rossini, P. M., Pascual-Leone, A., Di Iorio R., Marra C. (ORCID:0000-0003-3994-4044), Profice P., Quaranta D., and Rossini P. M. (ORCID:0000-0003-2665-534X)

Abstract

Objective: To investigate the efficacy of repetitive transcranial magnetic stimulation (rTMS) combined with cognitive training for treatment of cognitive symptoms in patients with Alzheimer’s disease (AD). A secondary objective was to analyze associations between brain plasticity and cognitive effects of treatment. Methods: In this randomized, sham-controlled, multicenter clinical trial, 34 patients with AD were assigned to three experimental groups receiving 30 daily sessions of combinatory intervention. Participants in the real/real group (n = 16) received 10 Hz repetitive transcranial magnetic stimulation (rTMS) delivered separately to each of six cortical regions, interleaved with computerized cognitive training. Participants in the sham rTMS group (n = 18) received sham rTMS combined with either real (sham/real group, n = 10) or sham (sham/sham group, n = 8) cognitive training. Effects of treatment on neuropsychological (primary outcome) and neurophysiological function were compared between the 3 treatment groups. These, as well as imaging measures of brain atrophy, were compared at baseline to 14 healthy controls (HC). Results: At baseline, patients with AD had worse cognition, cerebral atrophy, and TMS measures of cortico-motor reactivity, excitability, and plasticity than HC. The real/real group showed significant cognitive improvement compared to the sham/sham, but not the real/sham group. TMS-induced plasticity at baseline was predictive of post-intervention changes in cognition, and was modified across treatment, in association with changes of cognition. Interpretation: Combined rTMS and cognitive training may improve the cognitive status of AD patients, with TMS-induced cortical plasticity at baseline serving as predictor of therapeutic outcome for this intervention, and potential mechanism of action. Clinical Trial Registration: www.ClinicalTrials.gov, identifier NCT01504958.

Published
2020

10. Semantic priming in mild cognitive impairment and healthy subjects: Effect of different time of presentation of word-pairs

Author

Guglielmi, V., Quaranta, D., Mega, I., Costantini, E. M., Carrarini, C., Innocenti, A., Marra, C., Guglielmi V., Quaranta D., Costantini E. M., Marra C. (ORCID:0000-0003-3994-4044), Guglielmi, V., Quaranta, D., Mega, I., Costantini, E. M., Carrarini, C., Innocenti, A., Marra, C., Guglielmi V., Quaranta D., Costantini E. M., and Marra C. (ORCID:0000-0003-3994-4044)

Abstract

Introduction: Semantic memory is impaired in mild cognitive impairment (MCI). Two main hypotheses about this finding are debated and refer to the degradation of stored knowledge versus the impairment of semantic access mechanisms. The aim of our study is to evaluate semantic impairment in MCI versus healthy subjects (HS) by an experiment evaluating semantic priming. Methods: We enrolled 27 MCI and 20 HS. MCI group were divided, according to follow up, into converters-MCI and non converters-MCI. The semantic task consisted of 108 pairs of words, 54 of which were semantically associated. Stimuli were presented 250 or 900 ms later the appearance of the target in a randomized manner. Data were analyzed using factorial ANOVA. Results: Both HS and MCI answered more quickly for word than for non-word at both stimulus onset asynchrony (SOA) intervals. At 250 ms, both MCI and HS experienced a shorter time of response for relatedword than for unrelated words (priming effect), while only the converters-MCI subgroup lost the priming effect. Further, we observed a rather larger Cohen’s d effect size in non converters-MCI than in converters-MCI. Conclusion: Our data, and in particular the absence of a semantic priming effect in converters-MCI, could reflect the impairment of semantic knowledge rather than the accessibility of semantic stores in MCI individuals that progress to dementia.

Published
2020

11. Does Hearing Loss in the Elderly Individuals Conform to Impairment of Specific Cognitive Domains?

Author

Guglielmi, V., Marra, C., Picciotti, P. M., Masone Iacobucci, G., Giovannini, S., Quaranta, D., Anzivino, R., Paludetti, G., Conti, G., Guglielmi V., Marra C. (ORCID:0000-0003-3994-4044), Picciotti P. M. (ORCID:0000-0002-1502-6508), Giovannini S. (ORCID:0000-0001-9125-752X), Quaranta D., Anzivino R., Paludetti G. (ORCID:0000-0003-2480-1243), Conti G. (ORCID:0000-0003-2565-4206), Guglielmi, V., Marra, C., Picciotti, P. M., Masone Iacobucci, G., Giovannini, S., Quaranta, D., Anzivino, R., Paludetti, G., Conti, G., Guglielmi V., Marra C. (ORCID:0000-0003-3994-4044), Picciotti P. M. (ORCID:0000-0002-1502-6508), Giovannini S. (ORCID:0000-0001-9125-752X), Quaranta D., Anzivino R., Paludetti G. (ORCID:0000-0003-2480-1243), and Conti G. (ORCID:0000-0003-2565-4206)

Abstract

Background: It is well known that age-related hearing loss (ARHL) is strongly associated with dementia. Different hypotheses have been considered to explain this link, including sensorial deprivation, the reduction in cognitive reserve, and the presence of shared pathological pathways (microvascular damage of the brain). Aims: We carried out a study of the audiological and neuropsychological characteristics of a sample of hearing impaired but cognitively healthy individuals (HIH). The aim of our study was to carefully outline the neuropsychological profile of the patients in order to verify whether hearing loss correlated with deficits in specific cognitive domains. Results: Episodic memory is affected by the presence of hearing loss, while semantic competences, syntactic, and grammar skills seem not to be affected. Furthermore, some audiological features linked to the intelligibility of spoken words can predict the presence of executive dysfunction; the same does not apply to memory impairment. Conclusion: In HIH, executive functions are widely employed in maintaining an acceptable level of comprehension of spoken language; consequently, other cognitive domains and instrumental abilities in HIH are not properly supported. Thus, it is arguable that programs of hearing rehabilitation for HIH could restore the allocation of attentional resources to the functioning of other cognitive domains.

Published
2020

12. Naming famous people through face and voice: a normative study

Author

Piccininni, C., Gainotti, G., Carlesimo, G. A., Luzzi, S., Papagno, C., Trojano, L., Ferrara, A., Marra, C., Quaranta, D., Piccininni C., Gainotti G., Marra C. (ORCID:0000-0003-3994-4044), Quaranta D., Piccininni, C., Gainotti, G., Carlesimo, G. A., Luzzi, S., Papagno, C., Trojano, L., Ferrara, A., Marra, C., Quaranta, D., Piccininni C., Gainotti G., Marra C. (ORCID:0000-0003-3994-4044), and Quaranta D.

Abstract

Objectives: Within the large topic of naming disorders, an important and separated chapter belongs to proper names. Defects of proper naming could be a selective linguistic problem. Sometimes, it includes names belonging to various kinds of semantically unique entities, but other times, it has been observed for famous people proper names only. According to Bruce and Young’s model, different stages allow to recognize, identify, and name famous people from their faces and voices, subsuming different anatomical pathways, both in right temporal lobe, and their different efficiency in this task. The present study aimed to report the normative data concerning the naming of the same famous people from voice and face. Subjects and methods: One hundred fifty-three normal subjects underwent a test in which they were requested to name famous people from their face and from their voice. The stimuli belonged to the previously published Famous People Recognition Battery. Results: The mean percentage score on naming from face was 84.42 ± 12.03% (range 55.26–100%) and the mean percentage score on naming from voice was 66.04 ± 16.81% (range 28.13–100%). The difference observed in performance by face and by voice resulted significant (t|153 = 15.973; p < 0.001). Regression analyses showed that the percentage score obtained on naming from faces was predicted by education, whereas naming from voice was predicted by education and gender. Discussion: Naming from voice is more difficult than from face, confirming a different difficulty of the two tasks. Education showed high predicting value for faces and less for voices, whereas gender contributed to predict results only for voices.

Published
2020

13. Introduzione alla neuroanatomia funzionale dei processi cognitivi

Author

Quaranta, Davide, Silveri, Maria Caterina, Marra, Camillo, Quaranta D, Silveri MC (ORCID:0000-0001-5012-0682), marra C (ORCID:0000-0003-3994-4044), Quaranta, Davide, Silveri, Maria Caterina, Marra, Camillo, Quaranta D, Silveri MC (ORCID:0000-0001-5012-0682), and marra C (ORCID:0000-0003-3994-4044)

Abstract

italiano

Published
2022

14. Neuronavigated Magnetic Stimulation combined with cognitive training for Alzheimer’s patients: an EEG graph study

Author

Vecchio, F., Quaranta, D., Miraglia, F., Pappalettera, C., Di Iorio, R., L'Abbate, F., Cotelli, Maria, Marra, Camillo, Rossini, P. M., Cotelli M., Marra C. (ORCID:0000-0003-3994-4044), Vecchio, F., Quaranta, D., Miraglia, F., Pappalettera, C., Di Iorio, R., L'Abbate, F., Cotelli, Maria, Marra, Camillo, Rossini, P. M., Cotelli M., and Marra C. (ORCID:0000-0003-3994-4044)

Abstract

Alzheimer’s disease (AD) is the most common neurodegenerative disorder in elderly subjects. Recent studies verified the effects of cognitive training combined with repetitive transcranial magnetic stimulation (rTMS-COG) in AD patients. Here, we analyzed neuropsychological and neurophysiological data, derived from electroencephalography (EEG), to evaluate the effects of a 6-week protocol of rTMS-COG in 72 AD. We designed a randomized, double-blind, sham-controlled trial to evaluate efficacy of rTMS on 6 brain regions obtained by an individual MRI combined with COG related to brain areas to stimulate (i.e., syntax and grammar tasks, comprehension of lexical meaning and categorization tasks, action naming, object naming, spatial memory, spatial attention). Patients underwent neuropsychological and EEG examination before (T0), after treatment (T1), and after 40 weeks (T2), to evaluate the effects of rehabilitation therapy. “Small World” (SW) graph approach was introduced allowing us to model the architecture of brain connectivity in order to correlate it with cognitive improvements. We found that following 6 weeks of intensive daily treatment the immediate results showed an improvement in cognitive scales among AD patients. SW present no differences before and after the treatment, whereas a crucial SW modulation emerges at 40-week follow-up, emphasizing the importance of rTMS-COG rehabilitation treatment for AD. Additional results demonstrated that the delta and alpha1 SW seem to be diagnostic biomarkers of AD, whereas alpha2 SW might represent a prognostic biomarker of cognitive recovery. Derived EEG parameters can be awarded the role of diagnostic and predictive biomarkers of AD progression, and rTMS-COG can be regarded as a potentially useful treatment for AD.

Published
2022

17. The Impact of COVID-19 Quarantine on Patients With Dementia and Family Caregivers: A Nation-Wide Survey

Author

Rainero, I, Bruni, A, Marra, C, Cagnin, A, Bonanni, L, Cupidi, C, Lagana, V, Rubino, E, Vacca, A, Di Lorenzo, R, Provero, P, Isella, V, Vanacore, N, Agosta, F, Appollonio, I, Caffarra, P, Busse, C, Sambati, R, Quaranta, D, Guglielmi, V, Logroscino, G, Filippi, M, Tedeschi, G, Ferrarese, C, Gallo, E, Grassini, A, Marcinnò, A, Roveta, F, De Martino, P, Frangipane, F, Puccio, G, Colao, R, Mirabelli, M, Terracciano, C, Lino, F, Mozzetta, S, Gazzola, G, Camporese, G, Sacco, S, Lechiara, M, Carrarini, C, Russo, M, Casa Lena, A, Sucapane, P, Tiraboschi, P, Caroppo, P, Redaelli, V, Di Fede, G, Coppa, D, Peluso, L, Insarda, P, De Bartolo, M, Esposito, S, Iavarone, A, Fuschillo, C, Salvatore, E, Criscuolo, C, Sambati, L, Santoro, R, Gragnaniello, D, Pedriali, I, Ludovico, L, Chiari, A, Fabbo, A, Bevilacqua, P, Galli, C, Magarelli, S, Spalletta, G, Banaj, N, Caruso, G, Porcari, E, Giubilei, F, Casini, A, Ursini, F, Bruno, G, Boffelli, S, Brambilla, M, Magnani, G, Caso, F, Spinelli, E, Sinforiani, E, Costa, A, Luzzi, S, Cacchiò, G, Perini, M, Angeloni, R, Giuli, C, Fabi, K, Guidi, M, Paci, C, Castellano, A, Carapelle, E, Petrucci, R, Accogli, M, Trevisi, G, Renna, S, Vasquez Giuliano, A, Da Re, F, Milia, A, Pilia, G, Mascia, M, Putzu, V, Piccoli, T, Cuffaro, L, Monastero, R, Battaglia, A, Blandino, V, Lupo, F, Cumbo, E, Luca, A, Caravaglios, G, Vezzosi, A, Bessi, V, Tognoni, G, Calsolaro, V, Lucarelli, G, Amici, S, Trequattrini, A, Pezzuto, S, Mecocci, P, Caironi, G, Boselli, B, Formilan, M, Coin, A, De Togni, L, Sala, F, Sandri, G, Gallucci, M, Mazzarolo, A, Bergamelli, C, Passoni, S, Bruni, AC, Lechiara, MC, Porcari, ED, Casini, AR, Spinelli, EG, Trevisi, GN, Mascia, MG, Mazzarolo, AP, Rainero, I, Bruni, A, Marra, C, Cagnin, A, Bonanni, L, Cupidi, C, Lagana, V, Rubino, E, Vacca, A, Di Lorenzo, R, Provero, P, Isella, V, Vanacore, N, Agosta, F, Appollonio, I, Caffarra, P, Busse, C, Sambati, R, Quaranta, D, Guglielmi, V, Logroscino, G, Filippi, M, Tedeschi, G, Ferrarese, C, Gallo, E, Grassini, A, Marcinnò, A, Roveta, F, De Martino, P, Frangipane, F, Puccio, G, Colao, R, Mirabelli, M, Terracciano, C, Lino, F, Mozzetta, S, Gazzola, G, Camporese, G, Sacco, S, Lechiara, M, Carrarini, C, Russo, M, Casa Lena, A, Sucapane, P, Tiraboschi, P, Caroppo, P, Redaelli, V, Di Fede, G, Coppa, D, Peluso, L, Insarda, P, De Bartolo, M, Esposito, S, Iavarone, A, Fuschillo, C, Salvatore, E, Criscuolo, C, Sambati, L, Santoro, R, Gragnaniello, D, Pedriali, I, Ludovico, L, Chiari, A, Fabbo, A, Bevilacqua, P, Galli, C, Magarelli, S, Spalletta, G, Banaj, N, Caruso, G, Porcari, E, Giubilei, F, Casini, A, Ursini, F, Bruno, G, Boffelli, S, Brambilla, M, Magnani, G, Caso, F, Spinelli, E, Sinforiani, E, Costa, A, Luzzi, S, Cacchiò, G, Perini, M, Angeloni, R, Giuli, C, Fabi, K, Guidi, M, Paci, C, Castellano, A, Carapelle, E, Petrucci, R, Accogli, M, Trevisi, G, Renna, S, Vasquez Giuliano, A, Da Re, F, Milia, A, Pilia, G, Mascia, M, Putzu, V, Piccoli, T, Cuffaro, L, Monastero, R, Battaglia, A, Blandino, V, Lupo, F, Cumbo, E, Luca, A, Caravaglios, G, Vezzosi, A, Bessi, V, Tognoni, G, Calsolaro, V, Lucarelli, G, Amici, S, Trequattrini, A, Pezzuto, S, Mecocci, P, Caironi, G, Boselli, B, Formilan, M, Coin, A, De Togni, L, Sala, F, Sandri, G, Gallucci, M, Mazzarolo, A, Bergamelli, C, Passoni, S, Bruni, AC, Lechiara, MC, Porcari, ED, Casini, AR, Spinelli, EG, Trevisi, GN, Mascia, MG, and Mazzarolo, AP

Abstract

Introduction: Previous studies showed that quarantine for pandemic diseases is associated with several psychological and medical effects. The consequences of quarantine for COVID-19 pandemic in patients with dementia are unknown. We investigated the clinical changes in patients with Alzheimer’s disease and other dementias, and evaluated caregivers’ distress during COVID-19 quarantine. Methods: The study involved 87 Italian Dementia Centers. Patients with Alzheimer’s Disease (AD), Dementia with Lewy Bodies (DLB), Frontotemporal Dementia (FTD), and Vascular Dementia (VD) were eligible for the study. Family caregivers of patients with dementia were interviewed by phone in April 2020, 45 days after quarantine declaration. Main outcomes were patients’ changes in cognitive, behavioral, and motor symptoms. Secondary outcomes were effects on caregivers’ psychological features. Results: 4913 patients (2934 females, 1979 males) fulfilled the inclusion criteria. Caregivers reported a worsening in cognitive functions in 55.1% of patients, mainly in subjects with DLB and AD. Aggravation of behavioral symptoms was observed in 51.9% of patients. In logistic regression analysis, previous physical independence was associated with both cognitive and behavioral worsening (odds ratio 1.85 [95% CI 1.42–2.39], 1.84 [95% CI 1.43–2.38], respectively). On the contrary, pandemic awareness was a protective factor for the worsening of cognitive and behavioral symptoms (odds ratio 0.74 [95% CI 0.65–0.85]; and 0.72 [95% CI 0.63–0.82], respectively). Approximately 25.9% of patients showed the onset of new behavioral symptoms. A worsening in motor function was reported by 36.7% of patients. Finally, caregivers reported a high increase in anxiety, depression, and distress. Conclusion: Our study shows that quarantine for COVID-19 is associated with an acute worsening of clinical symptoms in patients with dementia as well as increase of caregivers’ burden. Our findings emphasize the importance to imp

Published
2021

18. Being the Family Caregiver of a Patient With Dementia During the Coronavirus Disease 2019 Lockdown

Author

Zucca, M., Isella, V., Lorenzo, R. D., Marra, Camillo, Cagnin, A., Cupidi, C., Bonanni, L., Lagana, V., Rubino, E., Vanacore, N., Agosta, F., Caffarra, P., Sambati, R., Quaranta, Davide, Guglielmi, Valeria, Appollonio, I. M., Logroscino, G., Filippi, M., Tedeschi, G., Ferrarese, C., Rainero, I., Bruni, A. C., Gallo, E., Grassini, A., Marcinno, A., Roveta, F., Martino, P. D., Frangipane, F., Puccio, G., Colao, R., Mirabelli, M., Martellacci, N., Lino, F., Mozzetta, S., Busse, C., Camporese, G., Sacco, S., Lechiara, M. C., Carrarini, Claudia, Russo, M., Casalena, A., Sucapane, P., Tiraboschi, P., Caroppo, P., Redaelli, V., Fede, G. D., Coppa, D., Peluso, L., Insarda, P., Bartolo, M. D., Esposito, S., Iavarone, A., Orsini, A. V. M., Salvatore, E., Criscuolo, C., Sambati, L., Santoro, R., Gragnaniello, D., Pedriali, I., Ludovico, L., Chiari, A., Fabbo, A., Bevilacqua, P., Galli, C., Magarelli, S., Perini, M., Spalletta, G., Banaj, N., Porcari, D. E., Caruso, G., Cipollini, V., Casini, A. R., Ursini, F., Bruno, G., Rozzini, R., Brambilla, M., Magnani, G., Caso, F., Spinelli, E. G., Ramusino, M. C., Perini, G., Luzzi, S., Cacchio, G., Ciccola, A., Cionfrini, L., Giuli, C., Fabi, K., Guidi, M., Paci, C., Castellano, A., Petrucci, R., Accogli, M., Carapelle, E., Calabrese, G., Trevisi, G. N., Coluccia, B., Giuliano, A. V., Caggiula, M., Impagnatiello, V., Beretta, F., Milia, A., Pilia, G., Mascia, M. G., Putzu, V., Piccoli, T., Cuffaro, L., Monastero, R., Battaglia, A., Blandino, V., Lupo, F., Cumbo, E., Luca, A., Caravaglios, G., Vezzosi, A., Bessi, V., Tognoni, G., Calsolaro, V., Mossello, E., Amici, S., Trequattrini, A., Pezzuto, S., Mecocci, P., Fichera, G., Pradelli, S., Formilan, M., Coin, A., Togni, L. D., Sala, F., Nicolosi, V., Gallucci, M., Mazzarolo, A. P., Bergamelli, C., Marra C. (ORCID:0000-0003-3994-4044), Quaranta D., Guglielmi V., Carrarini C., Zucca, M., Isella, V., Lorenzo, R. D., Marra, Camillo, Cagnin, A., Cupidi, C., Bonanni, L., Lagana, V., Rubino, E., Vanacore, N., Agosta, F., Caffarra, P., Sambati, R., Quaranta, Davide, Guglielmi, Valeria, Appollonio, I. M., Logroscino, G., Filippi, M., Tedeschi, G., Ferrarese, C., Rainero, I., Bruni, A. C., Gallo, E., Grassini, A., Marcinno, A., Roveta, F., Martino, P. D., Frangipane, F., Puccio, G., Colao, R., Mirabelli, M., Martellacci, N., Lino, F., Mozzetta, S., Busse, C., Camporese, G., Sacco, S., Lechiara, M. C., Carrarini, Claudia, Russo, M., Casalena, A., Sucapane, P., Tiraboschi, P., Caroppo, P., Redaelli, V., Fede, G. D., Coppa, D., Peluso, L., Insarda, P., Bartolo, M. D., Esposito, S., Iavarone, A., Orsini, A. V. M., Salvatore, E., Criscuolo, C., Sambati, L., Santoro, R., Gragnaniello, D., Pedriali, I., Ludovico, L., Chiari, A., Fabbo, A., Bevilacqua, P., Galli, C., Magarelli, S., Perini, M., Spalletta, G., Banaj, N., Porcari, D. E., Caruso, G., Cipollini, V., Casini, A. R., Ursini, F., Bruno, G., Rozzini, R., Brambilla, M., Magnani, G., Caso, F., Spinelli, E. G., Ramusino, M. C., Perini, G., Luzzi, S., Cacchio, G., Ciccola, A., Cionfrini, L., Giuli, C., Fabi, K., Guidi, M., Paci, C., Castellano, A., Petrucci, R., Accogli, M., Carapelle, E., Calabrese, G., Trevisi, G. N., Coluccia, B., Giuliano, A. V., Caggiula, M., Impagnatiello, V., Beretta, F., Milia, A., Pilia, G., Mascia, M. G., Putzu, V., Piccoli, T., Cuffaro, L., Monastero, R., Battaglia, A., Blandino, V., Lupo, F., Cumbo, E., Luca, A., Caravaglios, G., Vezzosi, A., Bessi, V., Tognoni, G., Calsolaro, V., Mossello, E., Amici, S., Trequattrini, A., Pezzuto, S., Mecocci, P., Fichera, G., Pradelli, S., Formilan, M., Coin, A., Togni, L. D., Sala, F., Nicolosi, V., Gallucci, M., Mazzarolo, A. P., Bergamelli, C., Marra C. (ORCID:0000-0003-3994-4044), Quaranta D., Guglielmi V., and Carrarini C.

Abstract

Background: Family caregivers of patients with dementia are at high risk of stress and burden, and quarantine due to the coronavirus disease 2019 (COVID-19) pandemic may have increased the risk of psychological disturbances in this population. The current study was carried out during the national lockdown declared in March 2020 by the Italian government as a containment measure of the first wave of the coronavirus pandemic and is the first nationwide survey on the impact of COVID-19 lockdown on the mental health of dementia informal caregivers. Methods: Eighty-seven dementia centers evenly distributed on the Italian territory enrolled 4,710 caregiver-patient pairs. Caregivers underwent a telephone interview assessing classical symptoms of caregiver stress and concern for the consequences of COVID-19 infection on patient's health. We calculated prevalence of symptoms and regressed them on various potential stress risk factors: caregivers' sociodemographic characteristics and lifestyle, patients' clinical features, and lockdown-related elements, like discontinuity in medical care. Results: Approximately 90% of caregivers reported at least one symptom of stress, and nearly 30% reported four or more symptoms. The most prevalent symptoms were concern for consequences of COVID-19 on patient's health (75%) and anxiety (46%). The main risk factors for stress were identified as a conflicting relationship with the patient and discontinuity in assistance, but caregiver's female sex, younger age, lower education, and cohabitation with the patient also had an impact. Availability of help from institutions or private individuals showed a protective effect against sense of abandonment but a detrimental effect on concern about the risk for the patient to contract COVID-19. The only protective factor was mild dementia severity, which was associated with a lower risk of feeling isolated and abandoned; type of dementia, on the other hand, did not affect stress risk. Conclusion: Our re

Published
2021

19. Being the Family Caregiver of a Patient With Dementia During the Coronavirus Disease 2019 Lockdown

Author

Zucca, M, Isella, V, Di Lorenzo, R, Marra, C, Cagnin, A, Cupidi, C, Bonanni, L, Laganà, V, Rubino, E, Vanacore, N, Agosta, F, Caffarra, P, Sambati, R, Quaranta, D, Guglielmi, V, Appollonio, I, Logroscino, G, Filippi, M, Tedeschi, G, Ferrarese, C, Rainero, I, Bruni, A, Gallo, E, Grassini, A, Marcinnò, A, Roveta, F, De Martino, P, Frangipane, F, Puccio, G, Colao, R, Mirabelli, M, Martellacci, N, Lino, F, Mozzetta, S, Bussè, C, Camporese, G, Sacco, S, Lechiara, M, Carrarini, C, Russo, M, Casalena, A, Sucapane, P, Tiraboschi, P, Caroppo, P, Redaelli, V, Di Fede, G, Coppa, D, Peluso, L, Insarda, P, De Bartolo, M, Esposito, S, Iavarone, A, Orsini, A, Salvatore, E, Criscuolo, C, Sambati, L, Santoro, R, Gragnaniello, D, Pedriali, I, Ludovico, L, Chiari, A, Fabbo, A, Bevilacqua, P, Galli, C, Magarelli, S, Perini, M, Spalletta, G, Banaj, N, Porcari, D, Caruso, G, Cipollini, V, Casini, A, Ursini, F, Bruno, G, Rozzini, R, Brambilla, M, Magnani, G, Caso, F, Spinelli, E, Cotta Ramusino, M, Perini, G, Luzzi, S, Cacchiò, G, Ciccola, A, Cionfrini, L, Giuli, C, Fabi, K, Guidi, M, Paci, C, Castellano, A, Petrucci, R, Accogli, M, Carapelle, E, Calabrese, G, Trevisi, G, Coluccia, B, Vasquez Giuliano, A, Caggiula, M, Impagnatiello, V, Beretta, F, Milia, A, Pilia, G, Mascia, M, Putzu, V, Piccoli, T, Cuffaro, L, Monastero, R, Battaglia, A, Blandino, V, Lupo, F, Cumbo, E, Luca, A, Caravaglios, G, Vezzosi, A, Bessi, V, Tognoni, G, Calsolaro, V, Mossello, E, Amici, S, Trequattrini, A, Pezzuto, S, Mecocci, P, Fichera, G, Pradelli, S, Formilan, M, Coin, A, De Togni, L, Sala, F, Nicolosi, V, Gallucci, M, Mazzarolo, A, Bergamelli, C, Bruni, AC, Lechiara, MC, Orsini, AVM, Porcari, DE, Casini, AR, Spinelli, EG, Trevisi, GN, Mascia, MG, Mazzarolo, AP, Zucca, M, Isella, V, Di Lorenzo, R, Marra, C, Cagnin, A, Cupidi, C, Bonanni, L, Laganà, V, Rubino, E, Vanacore, N, Agosta, F, Caffarra, P, Sambati, R, Quaranta, D, Guglielmi, V, Appollonio, I, Logroscino, G, Filippi, M, Tedeschi, G, Ferrarese, C, Rainero, I, Bruni, A, Gallo, E, Grassini, A, Marcinnò, A, Roveta, F, De Martino, P, Frangipane, F, Puccio, G, Colao, R, Mirabelli, M, Martellacci, N, Lino, F, Mozzetta, S, Bussè, C, Camporese, G, Sacco, S, Lechiara, M, Carrarini, C, Russo, M, Casalena, A, Sucapane, P, Tiraboschi, P, Caroppo, P, Redaelli, V, Di Fede, G, Coppa, D, Peluso, L, Insarda, P, De Bartolo, M, Esposito, S, Iavarone, A, Orsini, A, Salvatore, E, Criscuolo, C, Sambati, L, Santoro, R, Gragnaniello, D, Pedriali, I, Ludovico, L, Chiari, A, Fabbo, A, Bevilacqua, P, Galli, C, Magarelli, S, Perini, M, Spalletta, G, Banaj, N, Porcari, D, Caruso, G, Cipollini, V, Casini, A, Ursini, F, Bruno, G, Rozzini, R, Brambilla, M, Magnani, G, Caso, F, Spinelli, E, Cotta Ramusino, M, Perini, G, Luzzi, S, Cacchiò, G, Ciccola, A, Cionfrini, L, Giuli, C, Fabi, K, Guidi, M, Paci, C, Castellano, A, Petrucci, R, Accogli, M, Carapelle, E, Calabrese, G, Trevisi, G, Coluccia, B, Vasquez Giuliano, A, Caggiula, M, Impagnatiello, V, Beretta, F, Milia, A, Pilia, G, Mascia, M, Putzu, V, Piccoli, T, Cuffaro, L, Monastero, R, Battaglia, A, Blandino, V, Lupo, F, Cumbo, E, Luca, A, Caravaglios, G, Vezzosi, A, Bessi, V, Tognoni, G, Calsolaro, V, Mossello, E, Amici, S, Trequattrini, A, Pezzuto, S, Mecocci, P, Fichera, G, Pradelli, S, Formilan, M, Coin, A, De Togni, L, Sala, F, Nicolosi, V, Gallucci, M, Mazzarolo, A, Bergamelli, C, Bruni, AC, Lechiara, MC, Orsini, AVM, Porcari, DE, Casini, AR, Spinelli, EG, Trevisi, GN, Mascia, MG, and Mazzarolo, AP

Abstract

Background: Family caregivers of patients with dementia are at high risk of stress and burden, and quarantine due to the coronavirus disease 2019 (COVID-19) pandemic may have increased the risk of psychological disturbances in this population. The current study was carried out during the national lockdown declared in March 2020 by the Italian government as a containment measure of the first wave of the coronavirus pandemic and is the first nationwide survey on the impact of COVID-19 lockdown on the mental health of dementia informal caregivers. Methods: Eighty-seven dementia centers evenly distributed on the Italian territory enrolled 4,710 caregiver-patient pairs. Caregivers underwent a telephone interview assessing classical symptoms of caregiver stress and concern for the consequences of COVID-19 infection on patient's health. We calculated prevalence of symptoms and regressed them on various potential stress risk factors: caregivers' sociodemographic characteristics and lifestyle, patients' clinical features, and lockdown-related elements, like discontinuity in medical care. Results: Approximately 90% of caregivers reported at least one symptom of stress, and nearly 30% reported four or more symptoms. The most prevalent symptoms were concern for consequences of COVID-19 on patient's health (75%) and anxiety (46%). The main risk factors for stress were identified as a conflicting relationship with the patient and discontinuity in assistance, but caregiver's female sex, younger age, lower education, and cohabitation with the patient also had an impact. Availability of help from institutions or private individuals showed a protective effect against sense of abandonment but a detrimental effect on concern about the risk for the patient to contract COVID-19. The only protective factor was mild dementia severity, which was associated with a lower risk of feeling isolated and abandoned; type of dementia, on the other hand, did not affect stress risk. Conclusion: Our re

Published
2021

20. The Impact of COVID-19 Quarantine on Patients With Dementia and Family Caregivers: A Nation-Wide Survey

Author

Rainero, I., Bruni, A. C., Marra, Camillo, Cagnin, A., Bonanni, L., Cupidi, C., Lagana, V., Rubino, E., Vacca, A., Lorenzo, R. D., Provero, P., Isella, V., Vanacore, N., Agosta, F., Appollonio, I., Caffarra, P., Busse, C., Sambati, R., Quaranta, D., Guglielmi, Valeria, Logroscino, G., Filippi, M., Tedeschi, G., Ferrarese, C., Gallo, E., Grassini, A., Marcinno, A., Roveta, F., De Martino, P., Frangipane, F., Puccio, G., Colao, R., Mirabelli, M., Terracciano, C., Lino, F., Mozzetta, S., Gazzola, G., Camporese, G., Sacco, S., Lechiara, M. C., Carrarini, C., Russo, M., Casa Lena, A., Sucapane, P., Tiraboschi, P., Caroppo, P., Redaelli, V., Di Fede, G., Coppa, D., Peluso, L., Insarda, P., De Bartolo, M., Esposito, S., Iavarone, A., Fuschillo, C., Salvatore, E., Criscuolo, C., Sambati, L., Santoro, R., Gragnaniello, D., Pedriali, I., Ludovico, L., Chiari, A., Fabbo, A., Bevilacqua, P., Galli, C., Magarelli, S., Spalletta, G., Banaj, N., Caruso, G., Estela Porcari, D., Giubilei, F., Casini, A. R., Ursini, F., Bruno, G., Boffelli, S., Brambilla, M., Magnani, G., Caso, F., Spinelli, E. G., Sinforiani, E., Costa, A., Luzzi, S., Cacchio, G., Perini, M., Angeloni, R., Giuli, C., Fabi, K., Guidi, M., Paci, C., Castellano, A., Carapelle, E., Petrucci, R., Accogli, M., Nicoletta Trevisi, G., Renna, S., Giuliano, A. V., Da Re, F., Milia, A., Pilia, G., Mascia, M. G., Putzu, V., Piccoli, T., Cuffaro, L., Monastero, R., Battaglia, A., Blandino, V., Lupo, F., Cumbo, E., Luca, A., Caravaglios, G., Vezzosi, A., Bessi, V., Tognoni, G., Calsolaro, V., Lucarelli, G., Amici, S., Trequattrini, A., Pezzuto, S., Mecocci, P., Caironi, G., Boselli, B., Formilan, M., Coin, A., De Togni, L., Sala, F., Sandri, G., Gallucci, M., Mazzarolo, A. P., Bergamelli, C., Passoni, S., Marra C. (ORCID:0000-0003-3994-4044), Guglielmi V., Rainero, I., Bruni, A. C., Marra, Camillo, Cagnin, A., Bonanni, L., Cupidi, C., Lagana, V., Rubino, E., Vacca, A., Lorenzo, R. D., Provero, P., Isella, V., Vanacore, N., Agosta, F., Appollonio, I., Caffarra, P., Busse, C., Sambati, R., Quaranta, D., Guglielmi, Valeria, Logroscino, G., Filippi, M., Tedeschi, G., Ferrarese, C., Gallo, E., Grassini, A., Marcinno, A., Roveta, F., De Martino, P., Frangipane, F., Puccio, G., Colao, R., Mirabelli, M., Terracciano, C., Lino, F., Mozzetta, S., Gazzola, G., Camporese, G., Sacco, S., Lechiara, M. C., Carrarini, C., Russo, M., Casa Lena, A., Sucapane, P., Tiraboschi, P., Caroppo, P., Redaelli, V., Di Fede, G., Coppa, D., Peluso, L., Insarda, P., De Bartolo, M., Esposito, S., Iavarone, A., Fuschillo, C., Salvatore, E., Criscuolo, C., Sambati, L., Santoro, R., Gragnaniello, D., Pedriali, I., Ludovico, L., Chiari, A., Fabbo, A., Bevilacqua, P., Galli, C., Magarelli, S., Spalletta, G., Banaj, N., Caruso, G., Estela Porcari, D., Giubilei, F., Casini, A. R., Ursini, F., Bruno, G., Boffelli, S., Brambilla, M., Magnani, G., Caso, F., Spinelli, E. G., Sinforiani, E., Costa, A., Luzzi, S., Cacchio, G., Perini, M., Angeloni, R., Giuli, C., Fabi, K., Guidi, M., Paci, C., Castellano, A., Carapelle, E., Petrucci, R., Accogli, M., Nicoletta Trevisi, G., Renna, S., Giuliano, A. V., Da Re, F., Milia, A., Pilia, G., Mascia, M. G., Putzu, V., Piccoli, T., Cuffaro, L., Monastero, R., Battaglia, A., Blandino, V., Lupo, F., Cumbo, E., Luca, A., Caravaglios, G., Vezzosi, A., Bessi, V., Tognoni, G., Calsolaro, V., Lucarelli, G., Amici, S., Trequattrini, A., Pezzuto, S., Mecocci, P., Caironi, G., Boselli, B., Formilan, M., Coin, A., De Togni, L., Sala, F., Sandri, G., Gallucci, M., Mazzarolo, A. P., Bergamelli, C., Passoni, S., Marra C. (ORCID:0000-0003-3994-4044), and Guglielmi V.

Abstract

Introduction: Previous studies showed that quarantine for pandemic diseases is associated with several psychological and medical effects. The consequences of quarantine for COVID-19 pandemic in patients with dementia are unknown. We investigated the clinical changes in patients with Alzheimer’s disease and other dementias, and evaluated caregivers’ distress during COVID-19 quarantine. Methods: The study involved 87 Italian Dementia Centers. Patients with Alzheimer’s Disease (AD), Dementia with Lewy Bodies (DLB), Frontotemporal Dementia (FTD), and Vascular Dementia (VD) were eligible for the study. Family caregivers of patients with dementia were interviewed by phone in April 2020, 45 days after quarantine declaration. Main outcomes were patients’ changes in cognitive, behavioral, and motor symptoms. Secondary outcomes were effects on caregivers’ psychological features. Results: 4913 patients (2934 females, 1979 males) fulfilled the inclusion criteria. Caregivers reported a worsening in cognitive functions in 55.1% of patients, mainly in subjects with DLB and AD. Aggravation of behavioral symptoms was observed in 51.9% of patients. In logistic regression analysis, previous physical independence was associated with both cognitive and behavioral worsening (odds ratio 1.85 [95% CI 1.42–2.39], 1.84 [95% CI 1.43–2.38], respectively). On the contrary, pandemic awareness was a protective factor for the worsening of cognitive and behavioral symptoms (odds ratio 0.74 [95% CI 0.65–0.85]; and 0.72 [95% CI 0.63–0.82], respectively). Approximately 25.9% of patients showed the onset of new behavioral symptoms. A worsening in motor function was reported by 36.7% of patients. Finally, caregivers reported a high increase in anxiety, depression, and distress. Conclusion: Our study shows that quarantine for COVID-19 is associated with an acute worsening of clinical symptoms in patients with dementia as well as increase of caregivers’ burden. Our findings emphasize the importance to imp

Published
2021

22. Cross-sectional clinical, neuropsychological, neuroimaging, and neurophysiological characterization of mild cognitive impairment patients in WP5 PharmaCog/E-ADNI study: EP1105

Author

Galluzzi, S., Marizzoni, M., Babiloni, C., Bartres-Faz, D., Blin, O., Bordet, R., Bosch, B., De Anna, F., Didic, M., Farotti, L., Forloni, G., Jovicich, J., Marra, C., Marzano, N., Molinuevo, J. L., Nobili, F., Pariente, J., Parnetti, L., Payoux, P., Picco, A., Quaranta, D., Ranjeva, J.-P., Roccatagliata, L., Rossini, P. M., Salvadori, N., Schonknecht, P., Soricelli, A., Tsolaki, M., Vecchio, F., Visser, P. J., Wiltfang, J., and Frisoni, G. B.

Published
2014

25. Famous people recognition through personal name: a normative study

Author

Piccininni, C, Quaranta, D, Papagno, C, Trojano, L, Ferrara, A, Luzzi, S, Carlesimo, G, Marra, C, Gainotti, G, Piccininni C., Quaranta D., Papagno C., Trojano L., Ferrara A., Luzzi S., Carlesimo G. A., Marra C., Gainotti G., Piccininni, C, Quaranta, D, Papagno, C, Trojano, L, Ferrara, A, Luzzi, S, Carlesimo, G, Marra, C, Gainotti, G, Piccininni C., Quaranta D., Papagno C., Trojano L., Ferrara A., Luzzi S., Carlesimo G. A., Marra C., and Gainotti G.

Abstract

In this normative study, we investigated famous people recognition through personal name, using as stimuli the names of the same 40 Italian famous persons whose faces and voices had been utilized for the normative study of the Famous People Recognition Battery. For each famous people, we assessed name familiarity, person identification (when the name had been considered as familiar), and false alarms. The investigation was carried out on 143 normal subjects who varied in age and education. Name familiarity and semantic scores were affected by educational level, whereas age influenced false alarms. A comparison between results obtained with names in this research and with faces and voices of the same famous people in our previous study showed that familiarity scores were higher for personal names than those for faces and voices, which obtained the worst scores. Person identification scores were not significantly different from names and from faces, but both these scores were significantly higher than the semantic scores obtained by voices. Taken together, these results are inconsistent with the influential interactive activation and competition model of person recognition.

Published
2018

26. Naming famous people through face and voice: a normative study

Author

Piccininni, C, Gainotti, G, Carlesimo, G, Luzzi, S, Papagno, C, Trojano, L, Ferrara, A, Marra, C, Quaranta, D, Piccininni, Chiara, Gainotti, Guido, Carlesimo, Giovanni Augusto, Luzzi, Simona, Papagno, Costanza, Trojano, Luigi, Ferrara, Antonia, Marra, Camillo, Quaranta, Davide, Piccininni, C, Gainotti, G, Carlesimo, G, Luzzi, S, Papagno, C, Trojano, L, Ferrara, A, Marra, C, Quaranta, D, Piccininni, Chiara, Gainotti, Guido, Carlesimo, Giovanni Augusto, Luzzi, Simona, Papagno, Costanza, Trojano, Luigi, Ferrara, Antonia, Marra, Camillo, and Quaranta, Davide

Abstract

Objectives: Within the large topic of naming disorders, an important and separated chapter belongs to proper names. Defects of proper naming could be a selective linguistic problem. Sometimes, it includes names belonging to various kinds of semantically unique entities, but other times, it has been observed for famous people proper names only. According to Bruce and Young’s model, different stages allow to recognize, identify, and name famous people from their faces and voices, subsuming different anatomical pathways, both in right temporal lobe, and their different efficiency in this task. The present study aimed to report the normative data concerning the naming of the same famous people from voice and face. Subjects and methods: One hundred fifty-three normal subjects underwent a test in which they were requested to name famous people from their face and from their voice. The stimuli belonged to the previously published Famous People Recognition Battery. Results: The mean percentage score on naming from face was 84.42 ± 12.03% (range 55.26–100%) and the mean percentage score on naming from voice was 66.04 ± 16.81% (range 28.13–100%). The difference observed in performance by face and by voice resulted significant (t|153 = 15.973; p < 0.001). Regression analyses showed that the percentage score obtained on naming from faces was predicted by education, whereas naming from voice was predicted by education and gender. Discussion: Naming from voice is more difficult than from face, confirming a different difficulty of the two tasks. Education showed high predicting value for faces and less for voices, whereas gender contributed to predict results only for voices.

Published
2020

27. Behavioral and psychological effects of coronavirus disease-19 quarantine in patients with dementia

Author

Cagnin, A., Di Lorenzo, R., Marra, C., Bonanni, L., Cupidi, C., Lagana, V., Rubino, E., Vacca, A., Provero, P., Isella, V., Vanacore, N., Agosta, F., Appollonio, I., Caffarra, P., Pettenuzzo, I., Sambati, R., Quaranta, D., Guglielmi, V., Logroscino, G., Filippi, M., Tedeschi, G., Ferrarese, C., Rainero, I., Bruni, A. C., Gallo, E., Grassini, A., Marcinno, A., Roveta, F., De Martino, P., Frangipane, F., Puccio, G., Colao, R., Mirabelli, M., Martellacci, N., Lino, F., Mozzetta, S., Busse, C., Camporese, G., Sacco, S., Lechiara, M. C., Carrarini, C., Russo, M., Casalena, A., Sucapane, P., Tiraboschi, P., Caroppo, P., Redaelli, V., Di Fede, G., Coppa, D., Peluso, L., Insarda, P., De Bartolo, M., Esposito, S., Iavarone, A., Orsini, A. V. M., Salvatore, E., Criscuolo, C., Sambati, L., Santoro, R., Gragnaniello, D., Pedriali, I., Ludovico, L., Chiari, A., Fabbo, A., Bevilacqua, P., Galli, C., Magarelli, S., Perini, M., Spalletta, G., Banaj, N., Porcari, D. E., Caruso, G., Cipollini, V., Casini, A. R., Ursini, F., Bruno, G., Rozzini, R., Brambilla, M., Magnani, G., Caso, F., Spinelli, E. G., Ramusino, M. C., Perini, G., Luzzi, S., Cacchio, G., Angeloni, R., Giuli, C., Fabi, K., Guidi, M., Paci, C., Castellano, A., Carapelle, E., Petrucci, R., Accogli, M., Calabrese, G., Trevisi, G. N., Coluccia, B., Giuliano, A. V., Caggiula, M., Da Re, F., Milia, A., Pilia, G., Mascia, M. G., Putzu, V., Piccoli, T., Cuffaro, L., Monastero, R., Battaglia, A., Blandino, V., Lupo, F., Cumbo, E., Antonina, L., Caravaglios, G., Vezzosi, A., Bessi, V., Tognoni, G., Calsolaro, V., Mossello, E., Amici, S., Trequattrini, A., Pezzuto, S., Mecocci, P., Fichera, G., Pradelli, S., Formilan, M., Coin, A., Detogni, L., Sala, F., Sandri, G., Gallucci, M., Mazzarolo, A. P., Bergamelli, C., Marra C. (ORCID:0000-0003-3994-4044), Cagnin, A., Di Lorenzo, R., Marra, C., Bonanni, L., Cupidi, C., Lagana, V., Rubino, E., Vacca, A., Provero, P., Isella, V., Vanacore, N., Agosta, F., Appollonio, I., Caffarra, P., Pettenuzzo, I., Sambati, R., Quaranta, D., Guglielmi, V., Logroscino, G., Filippi, M., Tedeschi, G., Ferrarese, C., Rainero, I., Bruni, A. C., Gallo, E., Grassini, A., Marcinno, A., Roveta, F., De Martino, P., Frangipane, F., Puccio, G., Colao, R., Mirabelli, M., Martellacci, N., Lino, F., Mozzetta, S., Busse, C., Camporese, G., Sacco, S., Lechiara, M. C., Carrarini, C., Russo, M., Casalena, A., Sucapane, P., Tiraboschi, P., Caroppo, P., Redaelli, V., Di Fede, G., Coppa, D., Peluso, L., Insarda, P., De Bartolo, M., Esposito, S., Iavarone, A., Orsini, A. V. M., Salvatore, E., Criscuolo, C., Sambati, L., Santoro, R., Gragnaniello, D., Pedriali, I., Ludovico, L., Chiari, A., Fabbo, A., Bevilacqua, P., Galli, C., Magarelli, S., Perini, M., Spalletta, G., Banaj, N., Porcari, D. E., Caruso, G., Cipollini, V., Casini, A. R., Ursini, F., Bruno, G., Rozzini, R., Brambilla, M., Magnani, G., Caso, F., Spinelli, E. G., Ramusino, M. C., Perini, G., Luzzi, S., Cacchio, G., Angeloni, R., Giuli, C., Fabi, K., Guidi, M., Paci, C., Castellano, A., Carapelle, E., Petrucci, R., Accogli, M., Calabrese, G., Trevisi, G. N., Coluccia, B., Giuliano, A. V., Caggiula, M., Da Re, F., Milia, A., Pilia, G., Mascia, M. G., Putzu, V., Piccoli, T., Cuffaro, L., Monastero, R., Battaglia, A., Blandino, V., Lupo, F., Cumbo, E., Antonina, L., Caravaglios, G., Vezzosi, A., Bessi, V., Tognoni, G., Calsolaro, V., Mossello, E., Amici, S., Trequattrini, A., Pezzuto, S., Mecocci, P., Fichera, G., Pradelli, S., Formilan, M., Coin, A., Detogni, L., Sala, F., Sandri, G., Gallucci, M., Mazzarolo, A. P., Bergamelli, C., and Marra C. (ORCID:0000-0003-3994-4044)

Abstract

Background: In March 2020, the World Health Organization declared a global pandemic due to the novel coronavirus SARS-CoV-2 and several governments planned a national quarantine in order to control the virus spread. Acute psychological effects of quarantine in frail elderly subjects with special needs, such as patients with dementia, have been poorly investigated. The aim of this study was to assess modifications of neuropsychiatric symptoms during quarantine in patients with dementia and their caregivers. Methods: This is a sub-study of a multicenter nation-wide survey. A structured telephone interview was delivered to family caregivers of patients with diagnosis of Alzheimer disease (AD), dementia with Lewy bodies (DLB), frontotemporal dementia (FTD), and vascular dementia (VD), followed regularly at 87 Italian memory clinics. Variations in behavioral and psychological symptoms (BPSD) were collected after 1 month since quarantine declaration and associations with disease type, severity, gender, and caregiver’s stress burden were analyzed. Results: A total of 4,913 caregivers participated in the survey. Increased BPSD was reported in 59.6% of patients as worsening of preexisting symptoms (51.9%) or as new onset (26%), and requested drug modifications in 27.6% of these cases. Irritability, apathy, agitation, and anxiety were the most frequently reported worsening symptoms and sleep disorder and irritability the most frequent new symptoms. Profile of BPSD varied according to dementia type, disease severity, and patients’ gender. Anxiety and depression were associated with a diagnosis of AD (OR 1.35, CI: 1.12–1.62), mild to moderate disease severity and female gender. DLB was significantly associated with a higher risk of worsening hallucinations (OR 5.29, CI 3.66–7.64) and sleep disorder (OR 1.69, CI 1.25–2.29), FTD with wandering (OR 1.62, CI 1.12–2.35), and change of appetite (OR 1.52, CI 1.03–2.25). Stress-related symptoms were experienced by two-thirds of caregiv

Published
2020

28. An Italian Neurology Outpatient Clinic Facing SARS-CoV-2 Pandemic: Data From 2,167 Patients

Author

Piano, Carla, Di Stasio, Enrico, Primiano, Guido Alessandro, Janiri, D., Luigetti, Marco, Frisullo, Giovanni, Vollono, Catello, Lucchini, Matteo, Brunetti, V., Monforte, Mauro, Guglielmi, Valeria, Della Marca, Giacomo, Evoli Stampanoni-B, Amelia, Marra, Camillo, Mirabella, Massimiliano, Quaranta, Davide, Ricci, Enzo, Servidei, Serenella, Silvestri, Gabriella, Bellavia, Simone, Bortolani, S., Bove, Francesco, Di Iorio, Riccardo, Di Paolantonio, Andrea, Genovese, Danilo, Ialongo, Tamara, Lo Monaco, Maria Rita, Marotta, Jessica, Patanella, Ak., Perna, Alessia, Petracca, Martina, Presicce, Giorgia, Riso, Vittorio, Rollo, Eleonora, Romano, Angela, Romozzi, Marina, Sancricca, Cristina, Scala, Irene, Spagni, Gregorio, Solito, Marcella, Tricoli, Luca, Zinzi, P., Calabresi, Paolo, Bentivoglio, Anna Rita, Piano C., Di Stasio E. (ORCID:0000-0003-1047-4261), Primiano G., Luigetti M. (ORCID:0000-0001-7539-505X), Frisullo G., Vollono C., Lucchini M. (ORCID:0000-0002-0447-2297), Monforte M., Guglielmi V., Della Marca G. (ORCID:0000-0001-6914-799X), Evoli A. (ORCID:0000-0003-0282-8787), Marra C. (ORCID:0000-0003-3994-4044), Mirabella M. (ORCID:0000-0002-7783-114X), Quaranta D., Ricci E. (ORCID:0000-0003-3092-3597), Servidei S. (ORCID:0000-0001-8478-2799), Silvestri G. (ORCID:0000-0002-1950-1468), Bellavia S., Bove F., Di Iorio R., Di Paolantonio A., Genovese D., Ialongo T., Lo Monaco M. R. (ORCID:0000-0002-1457-7981), Marotta J., Perna A., Petracca M., Presicce G., Riso V., Rollo E., Romano A., Romozzi M., Sancricca C., Scala I., Spagni G., Solito M., Tricoli L., Calabresi P. (ORCID:0000-0003-0326-5509), Bentivoglio A. R. (ORCID:0000-0002-9663-095X), Piano, Carla, Di Stasio, Enrico, Primiano, Guido Alessandro, Janiri, D., Luigetti, Marco, Frisullo, Giovanni, Vollono, Catello, Lucchini, Matteo, Brunetti, V., Monforte, Mauro, Guglielmi, Valeria, Della Marca, Giacomo, Evoli Stampanoni-B, Amelia, Marra, Camillo, Mirabella, Massimiliano, Quaranta, Davide, Ricci, Enzo, Servidei, Serenella, Silvestri, Gabriella, Bellavia, Simone, Bortolani, S., Bove, Francesco, Di Iorio, Riccardo, Di Paolantonio, Andrea, Genovese, Danilo, Ialongo, Tamara, Lo Monaco, Maria Rita, Marotta, Jessica, Patanella, Ak., Perna, Alessia, Petracca, Martina, Presicce, Giorgia, Riso, Vittorio, Rollo, Eleonora, Romano, Angela, Romozzi, Marina, Sancricca, Cristina, Scala, Irene, Spagni, Gregorio, Solito, Marcella, Tricoli, Luca, Zinzi, P., Calabresi, Paolo, Bentivoglio, Anna Rita, Piano C., Di Stasio E. (ORCID:0000-0003-1047-4261), Primiano G., Luigetti M. (ORCID:0000-0001-7539-505X), Frisullo G., Vollono C., Lucchini M. (ORCID:0000-0002-0447-2297), Monforte M., Guglielmi V., Della Marca G. (ORCID:0000-0001-6914-799X), Evoli A. (ORCID:0000-0003-0282-8787), Marra C. (ORCID:0000-0003-3994-4044), Mirabella M. (ORCID:0000-0002-7783-114X), Quaranta D., Ricci E. (ORCID:0000-0003-3092-3597), Servidei S. (ORCID:0000-0001-8478-2799), Silvestri G. (ORCID:0000-0002-1950-1468), Bellavia S., Bove F., Di Iorio R., Di Paolantonio A., Genovese D., Ialongo T., Lo Monaco M. R. (ORCID:0000-0002-1457-7981), Marotta J., Perna A., Petracca M., Presicce G., Riso V., Rollo E., Romano A., Romozzi M., Sancricca C., Scala I., Spagni G., Solito M., Tricoli L., Calabresi P. (ORCID:0000-0003-0326-5509), and Bentivoglio A. R. (ORCID:0000-0002-9663-095X)

Abstract

Objective: Neurological sequelae of SARS-CoV-2 infection have already been reported, but there is insufficient data about the impact of the pandemic on the management of the patients with chronic neurological diseases. We aim to analyze the effect of COVID-19 pandemic and social restriction rules on these fragile patients. Methods: Patients with chronic neurologic diseases routinely followed at the outpatient clinic of Gemelli University Hospital, Rome, were assessed for symptoms suggestive of SARS-CoV-2 infection in the pandemic period, consequences of social restrictions, and neurological disease features, concomitant medical conditions, current medical and disease-specific treatments. Data source: a dedicated telephone survey designed to encompass questions on COVID-19 symptoms and on pandemic effects in chronic neurologic conditions. Results: Overall, 2,167 individuals were analyzed: 63 patients reported contact with COVID-19 positive cases, 41 performed the swab, and 2 symptomatic patients tested positive for COVID-19 (0.09%). One hundred fifty-eight individuals (7%) needed urgent neurological care, deferred due to the pandemic; 641 patients (30%) suspended hospital treatments, physiotherapy or other support interventions; 405 individuals (19%) reported a subjective worsening of neurological symptoms. Conclusions: In our population, the presence of neurological chronic diseases did not increase the prevalence of COVID-19 infection. Nevertheless, the burden of neurological disorders has been worsened by the lockdown.

Published
2020

29. Small World Index in Default Mode Network Predicts Progression from Mild Cognitive Impairment to Dementia

Author

Miraglia, Francesca, Vecchio, F., Marra, Camillo, Quaranta, Davide, Alu, F., Peroni, B., Granata, Giuseppe, Judica, E., Cotelli, Maria, Rossini, Paolo Maria, Miraglia F., Marra C. (ORCID:0000-0003-3994-4044), Quaranta D., Granata G., Cotelli M., Rossini P. M. (ORCID:0000-0003-2665-534X), Miraglia, Francesca, Vecchio, F., Marra, Camillo, Quaranta, Davide, Alu, F., Peroni, B., Granata, Giuseppe, Judica, E., Cotelli, Maria, Rossini, Paolo Maria, Miraglia F., Marra C. (ORCID:0000-0003-3994-4044), Quaranta D., Granata G., Cotelli M., and Rossini P. M. (ORCID:0000-0003-2665-534X)

Abstract

Aim of this study was to explore the EEG functional connectivity in amnesic mild cognitive impairments (MCI) subjects with multidomain impairment in order to characterize the Default Mode Network (DMN) in converted MCI (cMCI), which converted to Alzheimer's disease (AD), compared to stable MCI (sMCI) subjects. A total of 59 MCI subjects were recruited and divided -after appropriate follow-up- into cMCI or sMCI. They were further divided in MCI with linguistic domain (LD) impairment and in MCI with executive domain (ED) impairment. Small World (SW) index was measured as index of balance between integration and segregation brain processes. SW, computed restricting to nodes of DMN regions for all frequency bands, evaluated how they differ between MCI subgroups assessed through clinical and neuropsychological four-years follow-up. In addition, SW evaluated how this pattern differs between MCI with LD and MCI with ED. Results showed that SW index significantly decreased in gamma band in cMCI compared to sMCI. In cMCI with LD impairment, the SW index significantly decreased in delta band, while in cMCI with ED impairment the SW index decreased in delta and gamma bands and increased in alpha1 band. We propose that the DMN functional alterations in cognitive impairment could reflect an abnormal flow of brain information processing during resting state possibly associated to a status of pre-dementia.

Published
2020

31. Item consistency in retrieving person-specific semantic information from faces and voices: An exploratory study in healthy subjects

Author

Piccininni, C, Gainotti, G, Trojano, L, Luzzi, S, Papagno, C, Carlesimo, G, Marra, C, Quaranta, D, Piccininni C., Gainotti G., Trojano L., Luzzi S., Papagno C., Carlesimo G. A., Marra C., Quaranta D., Piccininni, C, Gainotti, G, Trojano, L, Luzzi, S, Papagno, C, Carlesimo, G, Marra, C, Quaranta, D, Piccininni C., Gainotti G., Trojano L., Luzzi S., Papagno C., Carlesimo G. A., Marra C., and Quaranta D.

Abstract

Controversies exist over the format of person-specific semantic representations in healthy subjects and the loss of part of these representations in conditions of brain pathology. Some authors have suggested that in brain-damaged patients item-specific consistency of errors through different recognition modalities might indicate a loss of person-specific information. This view is hindered by the fact that item consistency might also be variable in healthy subjects, because names, faces and voices have different degrees of effectiveness in the recognition of familiar people. The aim of the present research was to try to clarify this issue by assessing the value of consistency of semantic retrieval in a large sample of Italian healthy subjects who had judged as familiar the faces and voices of 40 Italian celebrities. The effect of fame level on item consistency was also evaluated. Results showed that the degree of item consistency between faces and voices was rather variable, for example it was influenced by fame level when the latter was based on an integrated (non-verbal) face/voice familiarity score, but not when it was based on the celebrities’ names in a (verbal) questionnaire. The consistency between non-verbal assessment of fame and item consistency in retrieving information from faces and voices suggests a different specialization of the left anterior temporal lobe (ATL) for the verbally coded aspects of personal semantics and of the right ATL for the visual (face) and auditory (voice) aspects of person representation.

Published
2017

33. What a pooled data study tells us about the relationships between gender and knowledge of semantic categories

Author

Moreno-Martinez, F. J., Quaranta, Davide, Gainotti, Guido, Quaranta D., Gainotti G., Moreno-Martinez, F. J., Quaranta, Davide, Gainotti, Guido, Quaranta D., and Gainotti G.

Abstract

Introduction: Both the neuropsychological study of patients with category-specific semantic disorders (CSSD) and the experimental research on categorical processing in healthy subjects (HSs) have shown that men are mainly impaired with fruits and vegetables and women with animals and artifacts. Since this difference is more striking in patients with CSSD than in HSs, we hypothesized that the lack of power of some investigations conducted with HSs and the different methods used in studies conducted with HSs and patients with CSSD could explain some of these inconsistencies and that a study conducted with a very large number of HSs using visual naming tasks should strongly confirm the role of gender in categorical tasks. Methods: Picture naming data gathered during the last ten years with our category-specificity paradigm from a large number (702) of HSs were reanalyzed. Results: As predicted, men named significantly more animals and artifacts, while women named more plant life items. Discussion: These data confirm that, if different domains of knowledge are studied in a very large sample of HSs using a picture naming task equivalent to the naming tasks used in most anatomo-clinical studies on CSSD, then the gender effects are highly significant.

Published
2019

34. The Italian dementia with Lewy bodies study group (DLB-SINdem): toward a standardization of clinical procedures and multicenter cohort studies design

Author

Bonanni, L, Cagnin, A., Agosta, F., Babiloni, C., Borroni, B., Bozzali, M., Bruni, A. C., Filippi, M., Galimberti, D., Monastero, R., Muscio, C., Parnetti, L., Perani, D., Serra, L., Silani, V., Tiraboschi, P., Padovani, A., On behalf of DLB SINdem study group, Null, Alberici, A., Alberoni, M., Amici, S., Appollonio, I., Arena, M. G., Arighi, A., Avanzi, S., Bagella, C. F., Baglio, F., Barocco, F., Belardinelli, N., Bonuccelli, U., Bottini, G., Bruno Bossio, R., Bruno, G., Buccomino, D., Cacchiò, G., Calabrese, E., Campanelli, A., Canevelli, M., Canu, E. D. G., Cappa, A., Capra, C., Carapelle, E., Caratozzolo, S., Carbone, G. F. S., Cattaruzza, T., Cerami, C., Cester, A., Cheldi, A., Cherchi, R., Chiari, A., Cirafisi, C., Colao, R., Confaloni, A., Conti, M. Z., Costa, A., Costa, B., Cotelli, M. S., Cova, I., Cravello, L., Cumbo, E., Cupidi, C., De Togni, L., Del Din, G., Del Re, M. L., Dentizzi, C., Di Lorenzo, F., Di Stefano, F., Dikova, N., Farina, E., Floris, G., Foti, A., Franceschi, M., Fumagalli, G. G., Gabelli, C., Ghidoni, E., Giannandrea, D., Giordana, M. T., Giorelli, M., Giubilei, F., Grimaldi, L., Grimaldi, R., Guglielmi, V., Lanari, A., Le Pira, F., Letteri, F., Levi Minzi, G. V., Lorusso, S., Ludovico, L., Luzzi, S., Maggiore, L., Magnani, G., Mancini, G., Manconi, F. M., Manfredi, L., Maniscalco, M., Marano, P., Marcon, M., Marcone, A., Marra, C., Martorana, A., Mascia, M. G., Mascia, V., Mauri, M., Mazzei, B., Meloni, M., Merlo, P., Messa, G., Milia, A., Monacelli, F., Montecalvo, G., Moschella, V., Mura, G., Nemni, R., Nobili, F., Notarelli, A., Di Giacomo, R., Onofrj, M., Paci, C., Padiglioni, C., Perini, M., Perotta, D., Perri, Formenti A., Perri, R., Piccininni, C., Piccoli, T., Pilia, G., Pilotto, A., Poli, S., Pomati, S., Pompanin, S., Pucci, E., Puccio, G., Quaranta, D., Rainero, I., Rea, G., Realmuto, S., Riva, M., Rizzetti, M. C., Rolma, G., Rozzini, L., Sacco, L., Saibene, F. L., Scarpini, E., Sensi, S., Seripa, D., Sinforiani, E., Sorbi, S., Sorrentino, Giuseppe, Spallazzi, M., Stracciari, A., Talarico, G., Tassinari, T., Thomas, A., Tiezzi, A., Tomassini, P. F., Trebbastoni, A., Tremolizzo, L., Tripi, G., Ursini, F., Vaianella, L., Valluzzi, F., Vezzadini, G., Vista, M., Volontè, M. A., Bonanni, L, Cagnin, A, Agosta, F, Babiloni, C, Borroni, B, Bozzali, M, Bruni, A, Filippi, M, Galimberti, D, Monastero, R, Muscio, C, Parnetti, L, Perani, D, Serra, L, Silani, V, Tiraboschi, P, Padovani, A, Alberici, A, Alberoni, M, Amici, S, Appollonio, I, Arena, M, Arighi, A, Avanzi, S, Bagella, C, Baglio, F, Barocco, F, Belardinelli, N, Bonuccelli, U, Bottini, G, Bruno Bossio, R, Bruno, G, Buccomino, D, Cacchiò, G, Calabrese, E, Campanelli, A, Canevelli, M, Canu, E, Cappa, A, Capra, C, Carapelle, E, Caratozzolo, S, Carbone, G, Cattaruzza, T, Cerami, C, Cester, A, Cheldi, A, Cherchi, R, Chiari, A, Cirafisi, C, Colao, R, Confaloni, A, Conti, M, Costa, A, Costa, B, Cotelli, M, Cova, I, Cravello, L, Cumbo, E, Cupidi, C, de Togni, L, Del Din, G, Del Re, M, Dentizzi, C, Di Lorenzo, F, Di Stefano, F, Dikova, N, Farina, E, Floris, G, Foti, A, Franceschi, M, Fumagalli, G, Gabelli, C, Ghidoni, E, Giannandrea, D, Giordana, M, Giorelli, M, Giubilei, F, Grimaldi, L, Grimaldi, R, Guglielmi, V, Lanari, A, Le Pira, F, Letteri, F, Levi Minzi, G, Lorusso, S, Ludovico, L, Luzzi, S, Maggiore, L, Magnani, G, Mancini, G, Manconi, F, Manfredi, L, Maniscalco, M, Marano, P, Marcon, M, Marcone, A, Marra, C, Martorana, A, Mascia, M, Mascia, V, Mauri, M, Mazzei, B, Meloni, M, Merlo, P, Messa, G, Milia, A, Monacelli, F, Montecalvo, G, Moschella, V, Mura, G, Nemni, R, Nobili, F, Notarelli, A, Di Giacomo, R, Onofrj, M, Paci, C, Padiglioni, C, Perini, M, Perotta, D, Perri, F, Perri, R, Piccininni, C, Piccoli, T, Pilia, G, Pilotto, A, Poli, S, Pomati, S, Pompanin, S, Pucci, E, Puccio, G, Quaranta, D, Rainero, I, Rea, G, Realmuto, S, Riva, M, Rizzetti, M, Rolma, G, Rozzini, L, Sacco, L, Saibene, F, Scarpini, E, Sensi, S, Seripa, D, Sinforiani, E, Sorbi, S, Sorrentino, G, Spallazzi, M, Stracciari, A, Talarico, G, Tassinari, T, Thomas, A, Tiezzi, A, Tomassini, P, Trebbastoni, A, Tremolizzo, L, Tripi, G, Ursini, F, Vaianella, L, Valluzzi, F, Vezzadini, G, Vista, M, Volontè, M, Bruni, Ac, DLB-SINdem study, Group, Bruni, AC, and Padovani, A - On behalf of DLB-SINdem study group

Subjects
Lewy Body Disease, medicine.medical_specialty, Pediatrics, Dementia with Lewy bodie, Dementia with Lewy bodies, Dermatology, Cohort Studies, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, Quality of life, Alzheimer Disease, Surveys and Questionnaires, mental disorders, Standardization of diagnostic procedures, Diagnosis, Survey, Disease Management, Humans, Italy, Research Design, 2708, Neurology (clinical), Psychiatry and Mental Health, medicine, Dementia, 030212 general & internal medicine, MED/01 - STATISTICA MEDICA, MED/26 - NEUROLOGIA, business.industry, Standardization of diagnostic procedure, General Medicine, medicine.disease, Settore MED/26 - NEUROLOGIA, Cohort, Differential, Physical therapy, Delirium, Alzheimer's disease, medicine.symptom, business, 030217 neurology & neurosurgery, Frontotemporal dementia, Cohort study
Abstract

Dementia with Lewy bodies (DLB) causes elevated outlays for the National Health Systems due to high institutionalization rate and patients' reduced quality of life and high mortality. Furthermore, DLB is often misdiagnosed as Alzheimer's disease. These data motivate harmonized multicenter longitudinal cohort studies to improve clinical management and therapy monitoring. The Italian DLB study group of the Italian Neurological Society for dementia (SINdem) developed and emailed a semi-structured questionnaire to 572 national dementia centers (from primary to tertiary) to prepare an Italian large longitudinal cohort. The questionnaire surveyed: (1) prevalence and incidence of DLB; (2) clinical assessment; (3) relevance and availability of diagnostic tools; (4) pharmacological management of cognitive, motor, and behavioural disturbances; (5) causes of hospitalization, with specific focus on delirium and its treatment. Overall, 135 centers (23.6 %) contributed to the survey. Overall, 5624 patients with DLB are currently followed by the 135 centers in a year (2042 of them are new patients). The percentage of DLB patients was lower (27 ± 8 %) than that of Alzheimer's disease and frontotemporal dementia (56 ± 27 %) patients. The majority of the centers (91 %) considered the clinical and neuropsychological assessments as the most relevant procedure for a DLB diagnosis. Nonetheless, most of the centers has availability of magnetic resonance imaging (MRI; 95 %), electroencephalography (EEG; 93 %), and FP-CIT single photon emission-computerized tomography (SPECT; 75 %) scan for clinical applications. It will be, therefore, possible to recruit a large harmonized Italian cohort of DLB patients for future cross-sectional and longitudinal multicenter studies.

Published
2017

35. Zirconium(IV) electrochemical behavior and electrorefining in molten fluoride salts

Author

Quaranta, D., Mendes, E., Massot, Laurent, Gibilaro, Mathieu, Serp, J., CEA-Direction des Energies (ex-Direction de l'Energie Nucléaire) (CEA-DES (ex-DEN)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Laboratoire de Génie Chimique (LGC), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Centre National de la Recherche Scientifique (CNRS)-Institut National Polytechnique (Toulouse) (Toulouse INP), Université de Toulouse (UT), CADARACHE, Bibliothèque, Laboratoire de génie chimique [ancien site de Basso-Cambo] (LGC), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS)-Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées, Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National Polytechnique (Toulouse) (Toulouse INP), and Université Fédérale Toulouse Midi-Pyrénées-Centre National de la Recherche Scientifique (CNRS)

Subjects
[PHYS.NUCL] Physics [physics]/Nuclear Theory [nucl-th], [PHYS.NUCL]Physics [physics]/Nuclear Theory [nucl-th], [PHYS.NEXP] Physics [physics]/Nuclear Experiment [nucl-ex], Recycling, Zirconium, [PHYS.NEXP]Physics [physics]/Nuclear Experiment [nucl-ex], Pyroprocessing, molten fluorides
Abstract

International audience; Zirconium is a strategic metal used in various activity sectors and particularly for nuclear applications because of its physicochemical properties a low cross-section of neutron capture, corrosion resistance under extreme conditions (high temperature, aggressive media), excellent mechanical resistance and high pyrophoricity. Thus 90% of the production of zirconium metal is used in the nuclear field, as zirconium alloy claddings, UZr fuel, and dissolvers used for spent fuel reprocessing. Zirconium metal is commonly obtained in the form of zirconium sponges produced by Kroll process that consists in a chemical reduction of zirconium chlorides to zirconium metal. On the other hand, spent zircaloy claddings represent a consequent amount of zirconium considered nowadays as a waste. There could be an economic interest to recycle the irradiated zircaloy claddings in order to valorize Zr for further reuse within nuclear applications.One promising zircaloy recycling process consists of electrorefining in molten salt media. Although chloride salts seem not suitable to operate such process, mainly because of the several stable oxidation states of Zr coexisting in these media, the use of fluoride systems should stabilize Zr oxidation state as Zr$^{4+}$. A first step consists in investigating the feasibility of the electrochemical recovery of Zr metal in fluoride media. Thus, the present work focused on the electrochemical behavior study of zirconium in molten fluoride using transient electroanalytical techniques, e.g. Cyclic voltammetry, square wave voltammetry, and chronopotentiometry. These different technics allowed to understand the Zirconium reduction mechanism by determining the number of exchanged electrons and assessed the thermodynamic properties of Zr in the salt (diffusion coefficient, etc.). Zirconium electrocrystallisation process was also investigated by chronoamperometry and cyclic voltammetry. This set of data is of first importance in order to estimate the further potentialities of the process

Published
2018

36. Etudes de voies potentielles pour le recyclage du zirconium des gaines en Zircaloy des combustibles usés

Author

Quaranta, D., CADARACHE, Bibliothèque, CEA-Direction des Energies (ex-Direction de l'Energie Nucléaire) (CEA-DES (ex-DEN)), and Commissariat à l'énergie atomique et aux énergies alternatives (CEA)

Subjects
[PHYS.NUCL] Physics [physics]/Nuclear Theory [nucl-th], [PHYS.NUCL]Physics [physics]/Nuclear Theory [nucl-th], [PHYS.NEXP] Physics [physics]/Nuclear Experiment [nucl-ex], [PHYS.NEXP]Physics [physics]/Nuclear Experiment [nucl-ex], ComputingMilieux_MISCELLANEOUS
Abstract

International audience

Published
2018

37. Suicidal ideation in a European Huntington's disease population

Author

Hubers, Aa, van Duijn, E, Roos, Ra, Craufurd, D, Rickards, H, Bernhard Landwehrmeyer, G, van der Mast RC, Giltay, Ej, Bachoud Lévi AC, Bentivoglio, Ar, Biunno, I, Bonelli, Rm, Burgunder, Jm, Dunnett, Sb, Ferreira, Jj, Handley, Oj, Heiberg, A, Llmann, Ti, Landwehrmeyer, Gb, Levey, J, Ramos Arroyo MA, Nielsen, Je, Prokoivisto, S, Päivärinta, M, Rojo Sebastián, A, Tabrizi, Sj, Vandenberghe, W, Verellen Dumoulin, C, Zaremba, J, Uhrova, T, Wahlström, J, Barth, K, Correia Guedes, L, Finisterra, Am, Garde, Mb, Bos, R, Betz, S, Callaghan, J, Fullam, R, Ecker, D, Nielsen, Mg, Hvalstedt, C, Held, C, Koppers, K, Laurà, M, Horta, Sm, Descals, Am, Mestre, T, Minster, S, Monza, D, Mütze, L, Oehmen, M, Townhill, J, Orth, M, Padieu, H, Paterski, L, Peppa, N, Pro Koivisto, S, Roedig, V, Rialland, A, Røren, N, Šašinková, P, Seliverstov, Y, Cubillo, Pt, Walsem, Mr, Wright, A, da Silva WV, Witjes Ané MN, Yudina, E, Zielonka, D, Zielonka, E, Zinzi, P, Herranhof, B, Holl, A, Kapfhammer, Hp, Koppitz, M, Magnet, M, Otti, D, Painold, A, Reisinger, K, Scheibl, M, Hecht, K, Lilek, S, Müller, N, Schöggl, H, Ullah, J, Brugger, F, Hepperger, C, Hotter, A, Seppi, K, Wenning, G, Buratti, L, Hametner, Em, Holas, C, Hussl, A, Poewe, W, Braunwarth, Em, Sprenger, F, Müller, C, Sinadinosa, D, Walleczek, Am, Ladurner, G, Staffen, W, Flamez, A, Morez, V, de Raedt, S, Boogaerts, A, van Reijen, D, Klempíř, J, Majerová, V, Roth, J, Hartikainen, P, Hiivola, H, Martikainen, K, Tuuha, K, Ignatius, J, Kärppä, M, Åman, J, Mustonen, A, Kajula, O, Santala, M, Allain, P, Guérid, Ma, Gohier, B, Olivier, A, Prundean, A, Scherer Gagou, C, Verny, C, Bost, M, Babiloni, B, Debruxelles, S, Duché, C, Goizet, C, Lafoucrière, D, Jameau, L, Spampinato, U, De Bruycker, C, Cabaret, M, Carette, As, Defebvre, L, Decorte, E, Delval, A, Delliaux, M, Destee, A, Dujardin, K, Peter, M, Plomhouse, L, Sablonnière, B, Simonin, C, Lemaire, Mh, Manouvrier, S, Thibault Tanchou, S, Vuillaume, I, Krystkowiak, P, Duru, C, Roussel, M, Wannepain, S, Berrissoul, H, Bellonet, M, Courtin, F, Mantaux, B, Fasquel, V, Godefroy, O, Azulay, Jp, Fluchère, F, Delfini, M, Eusebio, A, Mundler, L, Longato, N, Rudolf, G, Steinmetz, G, Tranchant, C, Wagner, C, Zimmermann, M, Marcel, C, Calvas, F, Pariente, J, Démonet, Jf, Cheriet, S, Kosinski, Cm, Milkereit, E, Probst, D, Reetz, K, Sass, C, Schiefer, J, Schlangen, C, Werner, Cj, Gelderblom, H, Priller, J, Prüß, H, Spruth, Ej, Andrich, J, Ellrichmann, G, Hoffmann, R, Kaminski, B, Saft, C, Stamm, C, Lange, H, Bosredon, C, Maass, A, Schmidt, S, Storch, A, Wolz, M, Kohl, Z, Winkler, J, Capetian, P, Lambeck, J, Zucker, B, Boelmans, K, Ganos, C, Goerendt, I, Hidding, U, Lewerenz, J, Münchau, A, Schmalfeld, J, Stubbe, L, Zittel, S, Diercks, G, Dressler, D, Gorzolla, H, Schrader, C, Tacik, P, Heinicke, W, Longinus, B, Bürk, K, Möller, Jc, Rissling, I, Mühlau, M, Peinemann, A, Städtler, M, Weindl, A, Winkelmann, J, Ziegler, C, Bohlen, S, Hölzner, E, Reilmann, R, Dose, M, Leythaeuser, G, Marquard, R, Raab, T, Schrenk, C, Schuierer, M, Buck, A, Connemann, J, Eschenbach, C, Landwehrmeyer, B, Lezius, F, Nepper, S, Niess, A, Schwenk, D, Süßmuth, S, Trautmann, S, Weydt, P, Cormio, C, Sciruicchio, V, Serpino, C, Tommaso, M, Capellari, S, Cortelli, P, Gallassi, R, Poda, R, Rizzo, G, Scaglione, C, Bertini, E, Ghelli, E, Ginestroni, A, Massaro, F, Mechi, C, Paganini, M, Piacentini, S, Pradella, S, Romoli, Am, Sorbi, S, Abbruzzese, G, di Poggio MB, Di Maria, E, Ferrandes, G, Mandich, P, Marchese, R, Albanese, A, Di Bella, D, Di Donato, S, Gellera, C, Genitrini, S, Mariotti, C, Nanetti, L, Paridi, D, Soliveri, P, Tomasello, C, De Michele, G, Di Maio, L, Salvatore, E, Rinaldi, C, Rossi, F, Massarelli, M, Roca, A, Ammendola, S, Russo, Cv, Squitieri, F, Elifani, F, Maglione, V, Di Pardo, A, Alberti, S, Griguoli, A, Amico, E, Martino, T, Petrollini, M, Catalli, C, Di Giacopo, R, Fasano, A, Frontali, M, Guidubaldi, A, Ialongo, T, Jacopini, G, Loria, G, Piano, C, Chiara, P, Quaranta, D, Romano, Silvia, Soleti, F, Spadaro, M, Romano, S, van Hout MS, van Vugt JP, Weert, A, Bolwijn, J, Dekker, M, Leenders, K, Kremer, Hp, Dumas, Em, van den Bogaard SJ, 't Hart EP, Økland, E, Hauge, E, Tyvoll, H, Frich, J, Aaserud, O, Wehus, R, Bjørgo, K, Fannemel, M, Gørvell, P, Lorentzen, E, Koivisto, Sp, Retterstøl, L, Overland, T, Stokke, B, Sando, B, Dziadkiewicz, A, Nowak, M, Robowski, P, Sitek, E, Slawek, J, Soltan, W, Szinwelski, M, Blaszcyk, M, Boczarska Jedynak, M, Ciach Wysocka, E, Gorzkowska, A, Jasinska Myga, B, Opala, G, Kłodowska Duda, G, Stompel, D, Banaszkiewicz, K, Boćwińska, D, Szczudlik, A, Rudzińska, M, Wójcik, M, Dec, M, Krawczyk, M, Jaremek, Kb, Szczygieł, E, Stenwak, A, Ielewska, Aw, Bryl, A, Ciesielska, A, Klimberg, A, Marcinkowski, J, Sempołowicz, J, Samara, H, Wiśniewski, B, Janik, P, Gogol, A, Kwiecinski, H, Jamrozik, Z, Kaminska, A, Antczak, J, Jachinska, K, Rakowicz, M, Richter, P, Rola, R, Ryglewicz, D, Sienkiewicz Jarosz, H, Stępniak, I, Witkowski, G, Zdzienicka, E, Sułek, A, Krysa, W, Zieora Jakutowicz, K, Júlio, F, Januário, C, Coelho, M, Mendes, T, Valadas, A, Timóteo, Â, Costa, C, Cavaco, S, Damásio, J, Loureiro, R, Magalhães, M, Andrade, C, Gago, M, Garrett, C, Guerra, Mr, Lima, J, Massano, J, Meireles, J, Herrera, Cd, Garcia, Pm, Barrero, F, Morales, B, Cubo, E, Mariscal, N, Sánchez, J, Alonso Frech, F, Perez, Mr, Fenollar, M, García, Rg, Quiroga, Pp, Rivera, Sv, Villanueva, C, Alegre, J, Bascuñana, M, Caldentey, Jg, Ventura, Mf, Ribas, Gg, Yébenes, Jg, López Sendón Moreno JL, García Ruíz PJ, Martínez Descals, A, Artiga, Mj, Sánchez, V, Guerrero, R, Bárcenas, Ah, Noguera Perea MF, Fortuna, L, Martirio, M, Torres, A, Reinante, G, Moreau, Lv, Barbera, Ma, Guia, Db, Hernanz, Lc, Catena, Jl, Sebastián, Ar, Ferrer, Pq, Carruesco, Gt, Bas, J, Busquets, N, Calopa, M, Elorza, Md, Díez AjaLópez, C, Terol, Sd, Robert, Mf, Ruíz, Bg, Casado, Ag, Martínez, Ih, Viladrich, Cm, Càrdenas, Rp, Roca, E, Llesoy, Jr, Idiago, Jm, Vergara, Mr, García, Ss, Riballo, Av, González, Sg, Guisasola, Lm, Salvador, C, San Martín ES, González, M, Gorospe, A, Legarda, I, Arques, Pn, Torres Rodríguez MJ, Vives, B, Gaston, I, Martinez Jaurrieta MD, Manuel, J, Moreno, G, Peña, Jc, Avarvarei, Ld, Bastida, Am, Recio, Mf, Vergé, Lr, Sánchez, Vs, Carrillo, F, Cáceres, Mt, Mir, P, Suarez, Mj, Bosca, M, Burguera, Ja, Garcia, Ac, Brugada, Fc, Martínez, Lm, Val, Jl, Loutfi, G, Olofsson, C, Stattin, El, Westman, L, Wikström, B, Lhagen, Se, Paucar, M, Svenningsson, P, Reza Soltani TW, Höglund, A, Sandström, B, Høsterey Ugander, U, Fredlund, G, Constantinescu, R, Neleborn Lingefjärd, L, Tedr off, J, Esmaeilzadeh, M, Winnberg, E, Pålhagen, S, Svennigsson, P, Riza Soltani TW, Sundblom, J, Johansson, A, Wiklund, L, Ekwall, C, Göller, Ml, Petersén, A, Reimer, J, Widner, H, Stebler, Y, Kaelin, A, Romero, I, Schüpbach, M, Weber, S, Miedzybrodzka, Z, Rae, D, Downie, L, Simpson, S, Summers, F, Ure, A, Jack, R, Matheson, K, Akhtar, S, Crooks, J, Curtis, A, Souza, J, Wright, J, Hayward, B, Sieradzan, K, Barker, Ra, O'Keefe, D, Di Pietro, A, Fisher, K, Hill, S, Mason, S, Swain, R, Valle, N, Guzman, Bisson, J, Busse, M, Butcher, C, Clenaghan, C, Dunnett, S, Handley, O, Hunt, S, Hughes, A, Johnstone, C, Jones, L, Jones, U, Khalil, H, Owen, M, Price, K, Rose, Le, Rosser, A, Porteous, M, Edwards, M, Ho, C, Mcgill, M, Pearson, P, Brockie, P, Foster, J, Johns, N, Mckenzie, S, Rothery, J, Thomas, G, Yates, S, Miller, J, Ritchie, S, Burrows, L, Fletcher, A, Harding, A, Laver, F, Silva, M, Thomson, A, Rowett, L, Gallantrae, D, Longthorpe, M, Markova, I, Raman, A, Hamer, S, Wild, S, Yarduiman, P, Chu, C, Kraus, A, Yardumian, P, Musgrave, H, Toscano, J, Jamieson, S, Hobson, E, Clayton, C, Dipple, H, Middleton, J, Freire Patino, D, Andrews, T, Dougherty, A, Kavalier, F, Golding, C, Laing, H, Lashwood, A, Robertson, D, Ruddy, D, Whaite, A, Santhouse, A, Patton, M, Peterson, M, Rose, S, Bruno, S, Chu, E, Doherty, K, Haider, S, Hensman, D, Lahiri, N, Lewis, M, Novak, M, Patel, A, Robertson, N, Rosser, E, Tabrizi, S, Taylor, R, Warner, T, Wild, E, Howard, L, Sollom, A, Snowden, J, Thompson, J, Jones, M, Murphy, H, Trender Gerhard, I, Rogers, D, Bek, J, Oughton, E, Johnson, L, Hare, M, Arran, N, Verstraelen, N, Partington Jones, L, Huson, S, Stopford, C, Westmoreland, L, Davidson, J, Morgan, K, Savage, L, Singh, B, Komati, S, Nemeth, Ah, Armstrong, R, Valentine, R, Siuda, G, Harrison, D, Hughes, M, Parkinson, A, Soltysiak, B, Burn, J, Coleman, C, Bandmann, O, Bradbury, A, Gill, P, Fairtlough, H, Fillingham, K, Foustanos, I, Kazoka, M, O'Donovan, K, Taylor, C, Tidswell, K, Quarrell, O., Laboratoire de Psychologie des Pays de la Loire (LPPL), Université d'Angers (UA)-Université de Nantes - UFR Lettres et Langages (UFRLL), Université de Nantes (UN)-Université de Nantes (UN), A. A., M, E. v., Duijn, R. A., C, D., Craufurd, H., Rickard, G. B., Landwehrmeyer, R. C., Van, E. J., Giltay, R. E., G., Rinaldi, Carlo, Anna A.M. Huber, Erik van Duijn, Raymund A.C. Roo, David Craufurd, Hugh Rickard, G. Bernhard Landwehrmeyer, Rose C. van der Mast, Erik J. Giltay REGISTRY investigators of the European Huntington's Disease Network. Collaborators: Bachoud-Lévi AC, Bentivoglio AR, Biunno I, Bonelli RM, Burgunder JM, Dunnett SB, Ferreira JJ, Handley OJ, Heiberg A, llmann TI, Landwehrmeyer GB, Levey J, Ramos-Arroyo MA, Nielsen JE, ProKoivisto S, Päivärinta M, Roos RA, Rojo Sebastián A, Tabrizi SJ, Vandenberghe W, Verellen- Dumoulin C, Zaremba J, Uhrova T, Wahlström J, Barth K, Correia-Guedes L, Finisterra AM, Garde MB, Bos R, Betz S, Callaghan J, Fullam R, Ecker D, Nielsen MG, Hvalstedt C, Held C, Koppers K, Laurà M, Horta SM, Descals AM, Mestre T, Minster S, Monza D, Mütze L, Oehmen M, Townhill J, Orth M, Padieu H, Paterski L, Peppa N, Pro Koivisto S, Roedig V, Rialland A, Røren N, Šašinková P, Seliverstov Y, Cubillo PT, Walsem MR, Wright A, da Silva WV, Witjes-Ané MN, Yudina E, Zielonka D, Zielonka E, Zinzi P, Herranhof B, Holl A, Kapfhammer HP, Koppitz M, Magnet M, Otti D, Painold A, Reisinger K, Scheibl M, Hecht K, Lilek S, Müller N, Schöggl H, Ullah J, Brugger F, Hepperger C, Hotter A, Seppi K, Wenning G, Buratti L, Hametner EM, Holas C, Hussl A, Poewe W, Braunwarth EM, Sprenger F, Müller C, Sinadinosa D, Walleczek AM, Ladurner G, Staffen W, Flamez A, Morez V, de Raedt S, Boogaerts A, van Reijen D, Klempíř J, Majerová V, Roth J, Hartikainen P, Hiivola H, Martikainen K, Tuuha K, Ignatius J, Kärppä M, Åman J, Mustonen A, Kajula O, Santala M, Allain P, Guérid MA, Gohier B, Olivier A, Prundean A, Scherer- Gagou C, Verny C, Bost M, Babiloni B, Debruxelles S, Duché C, Goizet C, Lafoucrière D, Jameau L, Spampinato U, De Bruycker C, Cabaret M, Carette AS, Defebvre L, Decorte E, Delval A, Delliaux M, Destee A, Dujardin K, Peter M, Plomhouse L, Sablonnière B, Simonin C, Lemaire MH, Manouvrier S, Thibault-Tanchou S, Vuillaume I, Krystkowiak P, Duru C, Roussel M, Wannepain S, Berrissoul H, Bellonet M, Courtin F, Mantaux B, Fasquel V, Godefroy O, Azulay JP, Fluchère F, Delfini M, Eusebio A, Mundler L, Longato N, Rudolf G, Steinmetz G, Tranchant C, Wagner C, Zimmermann M, Marcel C, Calvas F, Pariente J, Démonet JF, Cheriet S, Kosinski CM, Milkereit E, Probst D, Reetz K, Sass C, Schiefer J, Schlangen C, Werner CJ, Gelderblom H, Priller J, Prüß H, Spruth EJ, Andrich J, Ellrichmann G, Hoffmann R, Kaminski B, Saft C, Stamm C, Lange H, Bosredon C, Maass A, Schmidt S, Storch A, Wolz M, Kohl Z, Winkler J, Capetian P, Lambeck J, Zucker B, Boelmans K, Ganos C, Goerendt I, Hidding U, Lewerenz J, Münchau A, Schmalfeld J, Stubbe L, Zittel S, Diercks G, Dressler D, Gorzolla H, Schrader C, Tacik P, Heinicke W, Longinus B, Bürk K, Möller JC, Rissling I, Mühlau M, Peinemann A, Städtler M, Weindl A, Winkelmann J, Ziegler C, Bohlen S, Hölzner E, Reilmann R, Dose M, Leythaeuser G, Marquard R, Raab T, Schrenk C, Schuierer M, Buck A, Connemann J, Eschenbach C, Landwehrmeyer B, Lezius F, Nepper S, Niess A, Schwenk D, Süßmuth S, Trautmann S, Weydt P, Cormio C, Sciruicchio V, Serpino C, Tommaso M, Capellari S, Cortelli P, Gallassi R, Poda R, Rizzo G, Scaglione C, Bertini E, Ghelli E, Ginestroni A, Massaro F, Mechi C, Paganini M, Piacentini S, Pradella S, Romoli AM, Sorbi S, Abbruzzese G, di Poggio MB, Di Maria E, Ferrandes G, Mandich P, Marchese R, Albanese A, Di Bella D, Di Donato S, Gellera C, Genitrini S, Mariotti C, Nanetti L, Paridi D, Soliveri P, Tomasello C, De Michele G, Di Maio L, Salvatore E, Rinaldi C, Rossi F, Massarelli M, Roca A, Ammendola S, Russo CV, Squitieri F, Elifani F, Maglione V, Di Pardo A, Alberti S, Griguoli A, Amico E, Martino T, Petrollini M, Catalli C, Di Giacopo R, Fasano A, Frontali M, Guidubaldi A, Ialongo T, Jacopini G, Loria G, Piano C, Chiara P, Quaranta D, Romano S, Soleti F, Spadaro M, van Hout MS, van Vugt JP, Weert A, Bolwijn J, Dekker M, Leenders K, Kremer HP, Dumas EM, van den Bogaard SJ, 't Hart EP, van Duijn E, Økland E, Hauge E, Tyvoll H, Frich J, Aaserud O, Wehus R, Bjørgo K, Fannemel M, Gørvell P, Lorentzen E, Koivisto SP, Retterstøl L, Overland T, Stokke B, Sando B, Dziadkiewicz A, Nowak M, Robowski P, Sitek E, Slawek J, Soltan W, Szinwelski M, Blaszcyk M, Boczarska-Jedynak M, Ciach-Wysocka E, Gorzkowska A, Jasinska-Myga B, Opala G, Kłodowska-Duda G, Stompel D, Banaszkiewicz K, Boćwińska D, Szczudlik A, Rudzińska M, Wójcik M, Dec M, Krawczyk M, Jaremek KB, Szczygieł E, Stenwak A, ielewska AW, Bryl A, Ciesielska A, Klimberg A, Marcinkowski J, Sempołowicz J, Samara H, Wiśniewski B, Janik P, Gogol A, Kwiecinski H, Jamrozik Z, Kaminska A, Antczak J, Jachinska K, Rakowicz M, Richter P, Rola R, Ryglewicz D, Sienkiewicz-Jarosz H, Stępniak I, Witkowski G, Zdzienicka E, Sułek A, Krysa W, Zieora-Jakutowicz K, Júlio F, Januário C, Coelho M, Mendes T, Valadas A, Timóteo Â, Costa C, Cavaco S, Damásio J, Loureiro R, Magalhães M, Andrade C, Gago M, Garrett C, Guerra MR, Lima J, Massano J, Meireles J, Herrera CD, Garcia PM, Barrero F, Morales B, Cubo E, Mariscal N, Sánchez J, Alonso-Frech F, Perez MR, Fenollar M, García RG, Quiroga PP, Rivera SV, Villanueva C, Alegre J, Bascuñana M, Caldentey JG, Ventura MF, Ribas GG, Yébenes JG, López-Sendón Moreno JL, García Ruíz PJ, Martínez-Descals A, Artiga MJ, Sánchez V, Guerrero R, Bárcenas AH, Noguera Perea MF, Fortuna L, Martirio M, Torres A, Reinante G, Moreau LV, Barbera MA, Guia DB, Hernanz LC, Catena JL, Sebastián AR, Ferrer PQ, Carruesco GT, Bas J, Busquets N, Calopa M, Elorza MD, Díez-AjaLópez C, Terol SD, Robert MF, Ruíz BG, Casado AG, Martínez IH, Viladrich CM, Càrdenas RP, Roca E, Llesoy JR, Idiago JM, Vergara MR, García SS, Riballo AV, González SG, Guisasola LM, Salvador C, San Martín ES, González M, Gorospe A, Legarda I, Arques PN, Torres Rodríguez MJ, Vives B, Gaston I, Martinez-Jaurrieta MD, Manuel J, Moreno G, Peña JC, Avarvarei LD, Bastida AM, Recio MF, Vergé LR, Sánchez VS, Carrillo F, Cáceres MT, Mir P, Suarez MJ, Bosca M, Burguera JA, Garcia AC, Brugada FC, Martínez LM, Val JL, Loutfi G, Olofsson C, Stattin EL, Westman L, Wikström B, lhagen SE, Paucar M, Svenningsson P, Reza- Soltani TW, Höglund A, Sandström B, Høsterey-Ugander U, Fredlund G, Constantinescu R, Neleborn-Lingefjärd L, Tedr- off J, Esmaeilzadeh M, Winnberg E, Pålhagen S, Svennigsson P, Riza-Soltani TW, Sundblom J, Johansson A, Wiklund L, Ekwall C, Göller ML, Petersén A, Reimer J, Widner H, Stebler Y, Kaelin A, Romero I, Schüpbach M, Weber S, Miedzybrodzka Z, Rae D, Downie L, Simpson S, Summers F, Ure A, Jack R, Matheson K, Akhtar S, Crooks J, Curtis A, Souza J, Rickards H, Wright J, Hayward B, Sieradzan K, Barker RA, O'Keefe D, Di Pietro A, Fisher K, Hill S, Mason S, Swain R, Valle N, Guzman, Bisson J, Busse M, Butcher C, Clenaghan C, Dunnett S, Handley O, Hunt S, Hughes A, Johnstone C, Jones L, Jones U, Khalil H, Owen M, Price K, Rose LE, Rosser A, Porteous M, Edwards M, Ho C, McGill M, Pearson P, Brockie P, Foster J, Johns N, McKenzie S, Rothery J, Thomas G, Yates S, Miller J, Ritchie S, Burrows L, Fletcher A, Harding A, Laver F, Silva M, Thomson A, Rowett L, Gallantrae D, Longthorpe M, Markova I, Raman A, Hamer S, Wild S, Yarduiman P, Chu C, Kraus A, Yardumian P, Musgrave H, Toscano J, Jamieson S, Hobson E, Clayton C, Dipple H, Middleton J, Freire-Patino D, Andrews T, Dougherty A, Kavalier F, Golding C, Laing H, Lashwood A, Robertson D, Ruddy D, Whaite A, Santhouse A, Patton M, Peterson M, Rose S, Bruno S, Chu E, Doherty K, Haider S, Hensman D, Lahiri N, Lewis M, Novak M, Patel A, Robertson N, Rosser E, Tabrizi S, Taylor R, Warner T, Wild E, Craufurd D, Howard L, Sollom A, Snowden J, Thompson J, Jones M, Murphy H, Trender-Gerhard I, Rogers D, Bek J, Oughton E, Johnson L, Hare M, Arran N, Verstraelen N, Partington-Jones L, Huson S, Stopford C, Westmoreland L, Davidson J, Morgan K, Savage L, Singh B, Komati S, Nemeth AH, Armstrong R, Valentine R, Siuda G, Harrison D, Hughes M, Parkinson A, Soltysiak B, Burn J, Coleman C, Bandmann O, Bradbury A, Gill P, Fairtlough H, Fillingham K, Foustanos I, Kazoka M, O'Donovan K, Taylor C, Tidswell K, Quarrell O., Molecular Neuroscience and Ageing Research (MOLAR), Hubers, Aa, van Duijn, E, Roos, Ra, Craufurd, D, Rickards, H, Bernhard Landwehrmeyer, G, van der Mast, Rc, Giltay, Ej, CollaboratorsBachoud Lévi AC, REGISTRY investigators of the European Huntington's Disease N. e. t. w. o. r. k., Bentivoglio, Ar, Biunno, I, Bonelli, Rm, Burgunder, Jm, Dunnett, Sb, Ferreira, Jj, Handley, Oj, Heiberg, A, Llmann, Ti, Landwehrmeyer, Gb, Levey, J, Ramos Arroyo, Ma, Nielsen, Je, Prokoivisto, S, Päivärinta, M, Rojo Sebastián, A, Tabrizi, Sj, Vandenberghe, W, Verellen Dumoulin, C, Zaremba, J, Uhrova, T, Wahlström, J, Barth, K, Correia Guedes, L, Finisterra, Am, Garde, Mb, Bos, R, Betz, S, Callaghan, J, Fullam, R, Ecker, D, Nielsen, Mg, Hvalstedt, C, Held, C, Koppers, K, Laurà, M, Horta, Sm, Descals, Am, Mestre, T, Minster, S, Monza, D, Mütze, L, Oehmen, M, Townhill, J, Orth, M, Padieu, H, Paterski, L, Peppa, N, Pro Koivisto, S, Roedig, V, Rialland, A, Røren, N, a??inková, P, Seliverstov, Y, Cubillo, Pt, Walsem, Mr, Wright, A, da Silva, Wv, Witjes Ané, Mn, Yudina, E, Zielonka, D, Zielonka, E, Zinzi, P, Herranhof, B, Holl, A, Kapfhammer, Hp, Koppitz, M, Magnet, M, Otti, D, Painold, A, Reisinger, K, Scheibl, M, Hecht, K, Lilek, S, Müller, N, Schöggl, H, Ullah, J, Brugger, F, Hepperger, C, Hotter, A, Seppi, K, Wenning, G, Buratti, L, Hametner, Em, Holas, C, Hussl, A, Poewe, W, Braunwarth, Em, Sprenger, F, Müller, C, Sinadinosa, D, Walleczek, Am, Ladurner, G, Staffen, W, Flamez, A, Morez, V, de Raedt, S, Boogaerts, A, van Reijen, D, Klempí??, J, Majerová, V, Roth, J, Hartikainen, P, Hiivola, H, Martikainen, K, Tuuha, K, Ignatius, J, Kärppä, M, Åman, J, Mustonen, A, Kajula, O, Santala, M, Allain, P, Guérid, Ma, Gohier, B, Olivier, A, Prundean, A, Scherer Gagou, C, Verny, C, Bost, M, Babiloni, B, Debruxelles, S, Duché, C, Goizet, C, Lafoucrière, D, Jameau, L, Spampinato, U, De Bruycker, C, Cabaret, M, Carette, A, Defebvre, L, Decorte, E, Delval, A, Delliaux, M, Destee, A, Dujardin, K, Peter, M, Plomhouse, L, Sablonnière, B, Simonin, C, Lemaire, Mh, Manouvrier, S, Thibault Tanchou, S, Vuillaume, I, Krystkowiak, P, Duru, C, Roussel, M, Wannepain, S, Berrissoul, H, Bellonet, M, Courtin, F, Mantaux, B, Fasquel, V, Godefroy, O, Azulay, Jp, Fluchère, F, Delfini, M, Eusebio, A, Mundler, L, Longato, N, Rudolf, G, Steinmetz, G, Tranchant, C, Wagner, C, Zimmermann, M, Marcel, C, Calvas, F, Pariente, J, Démonet, Jf, Cheriet, S, Kosinski, Cm, Milkereit, E, Probst, D, Reetz, K, Sass, C, Schiefer, J, Schlangen, C, Werner, Cj, Gelderblom, H, Priller, J, Prüß, H, Spruth, Ej, Andrich, J, Ellrichmann, G, Hoffmann, R, Kaminski, B, Saft, C, Stamm, C, Lange, H, Bosredon, C, Maass, A, Schmidt, S, Storch, A, Wolz, M, Kohl, Z, Winkler, J, Capetian, P, Lambeck, J, Zucker, B, Boelmans, K, Ganos, C, Goerendt, I, Hidding, U, Lewerenz, J, Münchau, A, Schmalfeld, J, Stubbe, L, Zittel, S, Diercks, G, Dressler, D, Gorzolla, H, Schrader, C, Tacik, P, Heinicke, W, Longinus, B, Bürk, K, Möller, Jc, Rissling, I, Mühlau, M, Peinemann, A, Städtler, M, Weindl, A, Winkelmann, J, Ziegler, C, Bohlen, S, Hölzner, E, Reilmann, R, Dose, M, Leythaeuser, G, Marquard, R, Raab, T, Schrenk, C, Schuierer, M, Buck, A, Connemann, J, Eschenbach, C, Landwehrmeyer, B, Lezius, F, Nepper, S, Niess, A, Schwenk, D, Süßmuth, S, Trautmann, S, Weydt, P, Cormio, C, Sciruicchio, V, Serpino, C, Tommaso, M, Capellari, S, Cortelli, P, Gallassi, R, Poda, R, Rizzo, G, Scaglione, C, Bertini, E, Ghelli, E, Ginestroni, A, Massaro, F, Mechi, C, Paganini, M, Piacentini, S, Pradella, S, Romoli, Am, Sorbi, S, Abbruzzese, G, di Poggio, Mb, Di Maria, E, Ferrandes, G, Mandich, P, Marchese, R, Albanese, A, Di Bella, D, Di Donato, S, Gellera, C, Genitrini, S, Mariotti, C, Nanetti, L, Paridi, D, Soliveri, P, Tomasello, C, DE MICHELE, Giuseppe, Di Maio, L, Salvatore, Elena, Rossi, F, Massarelli, Marco, Roca, Alessandro, Ammendola, S, Russo, Cinzia, Squitieri, F, Elifani, F, Maglione, V, Di Pardo, A, Alberti, S, Griguoli, A, Amico, E, Martino, T, Petrollini, M, Catalli, C, Di Giacopo, R, Fasano, A, Frontali, M, Guidubaldi, A, Ialongo, T, Jacopini, G, Loria, G, Piano, C, Chiara, P, Quaranta, D, Romano, S, Soleti, F, Spadaro, M, Rinaldi, C, Massarelli, M, Roca, A, Russo, Cv, van Hout, M, van Vugt, Jp, Weert, A, Bolwijn, J, Dekker, M, Leenders, K, Kremer, Hp, Dumas, Em, van den Bogaard, Sj, 't Hart, Ep, Økland, E, Hauge, E, Tyvoll, H, Frich, J, Aaserud, O, Wehus, R, Bjørgo, K, Fannemel, M, Gørvell, P, Lorentzen, E, Koivisto, Sp, Retterstøl, L, Overland, T, Stokke, B, Sando, B, Dziadkiewicz, A, Nowak, M, Robowski, P, Sitek, E, Slawek, J, Soltan, W, Szinwelski, M, Blaszcyk, M, Boczarska Jedynak, M, Ciach Wysocka, E, Gorzkowska, A, Jasinska Myga, B, Opala, G, K??odowska Duda, G, Stompel, D, Banaszkiewicz, K, Bo??wi??ska, D, Szczudlik, A, Rudzi??ska, M, Wójcik, M, Dec, M, Krawczyk, M, Jaremek, Kb, Szczygie??, E, Stenwak, A, Ielewska, Aw, Bryl, A, Ciesielska, A, Klimberg, A, Marcinkowski, J, Sempo??owicz, J, Samara, H, Wi??niewski, B, Janik, P, Gogol, A, Kwiecinski, H, Jamrozik, Z, Kaminska, A, Antczak, J, Jachinska, K, Rakowicz, M, Richter, P, Rola, R, Ryglewicz, D, Sienkiewicz Jarosz, H, St??pniak, I, Witkowski, G, Zdzienicka, E, Su??ek, A, Krysa, W, Zieora Jakutowicz, K, Júlio, F, Januário, C, Coelho, M, Mendes, T, Valadas, A, Timóteo, Â, Costa, C, Cavaco, S, Damásio, J, Loureiro, R, Magalhães, M, Andrade, C, Gago, M, Garrett, C, Guerra, Mr, Lima, J, Massano, J, Meireles, J, Herrera, Cd, Garcia, Pm, Barrero, F, Morales, B, Cubo, E, Mariscal, N, Sánchez, J, Alonso Frech, F, Perez, Mr, Fenollar, M, García, Rg, Quiroga, Pp, Rivera, Sv, Villanueva, C, Alegre, J, Bascuñana, M, Caldentey, Jg, Ventura, Mf, Ribas, Gg, Yébenes, Jg, López Sendón Moreno, Jl, García Ruíz, Pj, Martínez Descals, A, Artiga, Mj, Sánchez, V, Guerrero, R, Bárcenas, Ah, Noguera Perea, Mf, Fortuna, L, Martirio, M, Torres, A, Reinante, G, Moreau, Lv, Barbera, Ma, Guia, Db, Hernanz, Lc, Catena, Jl, Sebastián, Ar, Ferrer, Pq, Carruesco, Gt, Bas, J, Busquets, N, Calopa, M, Elorza, Md, Díez AjaLópez, C, Terol, Sd, Robert, Mf, Ruíz, Bg, Casado, Ag, Martínez, Ih, Viladrich, Cm, Càrdenas, Rp, Roca, E, Llesoy, Jr, Idiago, Jm, Vergara, Mr, García, S, Riballo, Av, González, Sg, Guisasola, Lm, Salvador, C, San Martín, E, González, M, Gorospe, A, Legarda, I, Arques, Pn, Torres Rodríguez, Mj, Vives, B, Gaston, I, Martinez Jaurrieta, Md, Manuel, J, Moreno, G, Peña, Jc, Avarvarei, Ld, Bastida, Am, Recio, Mf, Vergé, Lr, Carrillo, F, Cáceres, Mt, Mir, P, Suarez, Mj, Bosca, M, Burguera, Ja, Garcia, Ac, Brugada, Fc, Martínez, Lm, Val, Jl, Loutfi, G, Olofsson, C, Stattin, El, Westman, L, Wikström, B, Lhagen, Se, Paucar, M, Svenningsson, P, Reza Soltani, Tw, Höglund, A, Sandström, B, Høsterey Ugander, U, Fredlund, G, Constantinescu, R, Neleborn Lingefjärd, L, Tedr off, J, Esmaeilzadeh, M, Winnberg, E, Pålhagen, S, Svennigsson, P, Riza Soltani, Tw, Sundblom, J, Johansson, A, Wiklund, L, Ekwall, C, Göller, Ml, Petersén, A, Reimer, J, Widner, H, Stebler, Y, Kaelin, A, Romero, I, Schüpbach, M, Weber, S, Miedzybrodzka, Z, Rae, D, Downie, L, Simpson, S, Summers, F, Ure, A, Jack, R, Matheson, K, Akhtar, S, Crooks, J, Curtis, A, Souza, J, Wright, J, Hayward, B, Sieradzan, K, Barker, Ra, O'Keefe, D, Di Pietro, A, Fisher, K, Hill, S, Mason, S, Swain, R, Valle, N, Bisson, J, Busse, M, Butcher, C, Clenaghan, C, Dunnett, S, Handley, O, Hunt, S, Hughes, A, Johnstone, C, Jones, L, Jones, U, Khalil, H, Owen, M, Price, K, Rose, Le, Rosser, A, Porteous, M, Edwards, M, Ho, C, Mcgill, M, Pearson, P, Brockie, P, Foster, J, Johns, N, Mckenzie, S, Rothery, J, Thomas, G, Yates, S, Miller, J, Ritchie, S, Burrows, L, Fletcher, A, Harding, A, Laver, F, Silva, M, Thomson, A, Rowett, L, Gallantrae, D, Longthorpe, M, Markova, I, Raman, A, Hamer, S, Wild, S, Yarduiman, P, Chu, C, Kraus, A, Yardumian, P, Musgrave, H, Toscano, J, Jamieson, S, Hobson, E, Clayton, C, Dipple, H, Middleton, J, Freire Patino, D, Andrews, T, Dougherty, A, Kavalier, F, Golding, C, Laing, H, Lashwood, A, Robertson, D, Ruddy, D, Whaite, A, Santhouse, A, Patton, M, Peterson, M, Rose, S, Bruno, S, Chu, E, Doherty, K, Haider, S, Hensman, D, Lahiri, N, Lewis, M, Novak, M, Patel, A, Robertson, N, Rosser, E, Tabrizi, S, Taylor, R, Warner, T, Wild, E, Howard, L, Sollom, A, Snowden, J, Thompson, J, Jones, M, Murphy, H, Trender Gerhard, I, Rogers, D, Bek, J, Oughton, E, Johnson, L, Hare, M, Arran, N, Verstraelen, N, Partington Jones, L, Huson, S, Stopford, C, Westmoreland, L, Davidson, J, Morgan, K, Savage, L, Singh, B, Komati, S, Nemeth, Ah, Armstrong, R, Valentine, R, Siuda, G, Harrison, D, Hughes, M, Parkinson, A, Soltysiak, B, Burn, J, Coleman, C, Bandmann, O, Bradbury, A, Gill, P, Fairtlough, H, Fillingham, K, Foustanos, I, Kazoka, M, O'Donovan, K, Taylor, C, Tidswell, K, and Quarrell, O.

Subjects
Male, medicine.medical_specialty, Heterozygote, Psychopharmacology, Population, Poison control, psychology/statistics /&/ numerical data, Suicide, Attempted, Suicide prevention, Suicidal Ideation, [SHS]Humanities and Social Sciences, 03 medical and health sciences, 0302 clinical medicine, medicine, Prevalence, Humans, epidemiology, Europe, Psychiatry, education, Suicidal ideation, ComputingMilieux_MISCELLANEOUS, Proportional Hazards Models, Attempted, Psychiatric Status Rating Scales, education.field_of_study, Psychological Tests, Suicide attempt, Psychopathology, Depression, Hazard ratio, Huntington's disease, Odds ratio, Middle Aged, 3. Good health, 030227 psychiatry, Europe, psychology, Male, Middle Aged, Prevalence, Proportional Hazards Models, Psychiatric Status Rating Scales, Psychological Tests, Suicidal Ideation, Suicide, Clinical Psychology, Psychiatry and Mental health, Suicide, Huntington Disease, epidemiology, Female, Heterozygote, Humans, Huntington Disease, Cohort studies, Female, medicine.symptom, Psychology, 030217 neurology & neurosurgery, Clinical psychology
Abstract

BACKGROUND: Previous studies indicate increased prevalences of suicidal ideation, suicide attempts, and completed suicide in Huntington's disease (HD) compared with the general population. This study investigates correlates and predictors of suicidal ideation in HD.METHODS: The study cohort consisted of 2106 HD mutation carriers, all participating in the REGISTRY study of the European Huntington's Disease Network. Of the 1937 participants without suicidal ideation at baseline, 945 had one or more follow-up measurements. Participants were assessed for suicidal ideation by the behavioural subscale of the Unified Huntington's Disease Rating Scale (UHDRS). Correlates of suicidal ideation were analyzed using logistic regression analysis and predictors were analyzed using Cox regression analysis.RESULTS: At baseline, 169 (8.0%) mutation carriers endorsed suicidal ideation. Disease duration (odds ratio [OR]=0.96; 95% confidence interval [CI]: 0.9-1.0), anxiety (OR=2.14; 95%CI: 1.4-3.3), aggression (OR=2.41; 95%CI: 1.5-3.8), a previous suicide attempt (OR=3.95; 95%CI: 2.4-6.6), and a depressed mood (OR=13.71; 95%CI: 6.7-28.0) were independently correlated to suicidal ideation at baseline. The 4-year cumulative incidence of suicidal ideation was 9.9%. Longitudinally, the presence of a depressed mood (hazard ratio [HR]=2.05; 95%CI: 1.1-4.0) and use of benzodiazepines (HR=2.44; 95%CI: 1.2-5.0) at baseline were independent predictors of incident suicidal ideation, whereas a previous suicide attempt was not predictive.LIMITATIONS: As suicidal ideation was assessed by only one item, and participants were a selection of all HD mutation carriers, the prevalence of suicidal ideation was likely underestimated.CONCLUSIONS: Suicidal ideation in HD frequently occurs. Assessment of suicidal ideation is a priority in mutation carriers with a depressed mood and in those using benzodiazepines.

Published
2013

38. Item consistency in retrieving person-specific semantic information from faces and voices: An exploratory study in healthy subjects

Author

Piccininni, Chiara, Gainotti, Guido, Trojano, L., Luzzi, S., Papagno, C., Carlesimo, G. A., Marra, Camillo, Quaranta, Davide, Piccininni C., Gainotti G., Marra C. (ORCID:0000-0003-3994-4044), Quaranta D., Piccininni, Chiara, Gainotti, Guido, Trojano, L., Luzzi, S., Papagno, C., Carlesimo, G. A., Marra, Camillo, Quaranta, Davide, Piccininni C., Gainotti G., Marra C. (ORCID:0000-0003-3994-4044), and Quaranta D.

Abstract

Controversies exist over the format of person-specific semantic representations in healthy subjects and the loss of part of these representations in conditions of brain pathology. Some authors have suggested that in brain-damaged patients item-specific consistency of errors through different recognition modalities might indicate a loss of person-specific information. This view is hindered by the fact that item consistency might also be variable in healthy subjects, because names, faces and voices have different degrees of effectiveness in the recognition of familiar people. The aim of the present research was to try to clarify this issue by assessing the value of consistency of semantic retrieval in a large sample of Italian healthy subjects who had judged as familiar the faces and voices of 40 Italian celebrities. The effect of fame level on item consistency was also evaluated. Results showed that the degree of item consistency between faces and voices was rather variable, for example it was influenced by fame level when the latter was based on an integrated (non-verbal) face/voice familiarity score, but not when it was based on the celebrities’ names in a (verbal) questionnaire. The consistency between non-verbal assessment of fame and item consistency in retrieving information from faces and voices suggests a different specialization of the left anterior temporal lobe (ATL) for the verbally coded aspects of personal semantics and of the right ATL for the visual (face) and auditory (voice) aspects of person representation.

Published
2017

39. Actinides separation chemistry in molten salts and its applications at the CEA

Author

Mendes, E., Serp, J., Bengio, D., Diaz, L., Quaranta, D., Serve, G., Bertrand, M., CEA-Direction des Energies (ex-Direction de l'Energie Nucléaire) (CEA-DES (ex-DEN)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), and amplexor, amplexor

Subjects
[PHYS.NUCL] Physics [physics]/Nuclear Theory [nucl-th], [PHYS.NUCL]Physics [physics]/Nuclear Theory [nucl-th], [PHYS.NEXP] Physics [physics]/Nuclear Experiment [nucl-ex], [PHYS.NEXP]Physics [physics]/Nuclear Experiment [nucl-ex], ComputingMilieux_MISCELLANEOUS
Abstract

International audience

Published
2016

40. La chimie des sels fondus, applications au CEA Marcoule

Author

Mendes, E., Serp, J., Diaz, L., Quaranta, D., Serve, G., Bertrand, M., amplexor, amplexor, CEA-Direction des Energies (ex-Direction de l'Energie Nucléaire) (CEA-DES (ex-DEN)), and Commissariat à l'énergie atomique et aux énergies alternatives (CEA)

Subjects
[PHYS.NUCL] Physics [physics]/Nuclear Theory [nucl-th], [PHYS.NUCL]Physics [physics]/Nuclear Theory [nucl-th], [PHYS.NEXP] Physics [physics]/Nuclear Experiment [nucl-ex], électrochimie, [PHYS.NEXP]Physics [physics]/Nuclear Experiment [nucl-ex], sels fondus, extraction réductrice, Pyrochimie
Abstract

National audience; Les procédés de separation par voie pyrochimique, en milieu sels fondus et métaux fondus, présentent un interêt potentiel dans le cadre d'une stratégie globale pour la separation et la transmutation des radionucléides à vie longue. Notamment, leur complémentarité avec les procédés hydrométallurgiques développés aujourd'hui (à La Hague, par exemple) permet d'envisager leur recours pour le traitement de combustibles et/ou matrices particuliers, i.e. combustibles métalliques Dans cette optique, le CEA Marcoule a debuté, fin des années 90, un programme de R and D en pyrochimie qui a pour but de fournir des données expérimentales démontrant la possibilité d'une separation groupée des actinides avec un facteur de decontamination en produits de fissions suffisamment important. Un procédé de retraitement a été developpé, sur le principe de deux étapes successives d'extraction liquide/liquide. La premiere étape consiste en une extraction réductrice selective des actinides par une phase d'aluminium liquide a partir d'un milieu de fluorures fondus. La seconde étape consiste a des-extraire les actinides de l'aluminium dans un sel chlorure. Les actinides ainsi purifiés vis-a-vis des PFs sont précipités sous forme d'oxydes en vue d'une refabrication ultérieure de combustible. La validité de ce procédé a pu être démontrée et optimisée, à l'echelle du laboratoire, sur des mélanges An/PFs au sein de l'installation Atalante. En parallèle, le CEA Marcoule participe activement, au travers de programmes de recherche Européens (ACSEPT, SACESS) au développement d'un procédé de retraitement des combustibles métalliques par technique d'electroraffinage en milieu chlorures fondus. Dans ce contexte, les etudes se focalisent sur les étapes du procédé qui constituent les principaux verrous scientifiques et technologiques, i.e. decontamination des bains d'électroraffinage. Enfin, les applications de ces procédés s'étendent aujourd'hui au-delà de la sphère du nucléaire, en particulier dans le cadre de la valorisation de métaux stratégiques tels que les Terres Rares.

Published
2016

41. The V471A polymorphism in autophagy-related gene ATG7 modifies age at onset specifically in Italian Huntington disease patients

Author

Metzger S, Walter C, Riess O, Roos RA, Nielsen JE, Craufurd D, Nguyen HP, REGISTRY Investigators of the European Huntington’s Disease Network:Bachoud Lévi AC, Bentivoglio AR, Biunno I, Bonelli RM, Burgunder JM, Dunnett SB, Ferreira JJ, Handley OJ, Heiberg A, Illmann T, Landwehrmeyer G, Levey J, Ramos Arroyo MA, Nielsen J, Koivisto SP, Päivärinta M, Sebastián AR, Tabrizi S, Vandenberghe W, Verellen Dumoulin C, Zaremba J, Uhrová T, Wahlström J, Barth K, Correia Guedes L, Finisterra AM, Garde MB, Bos R, Betz S, Callaghan J, Fullam R, Ecker D, Nielsen MG, Hvalstedt C, Held C, Koppers K, Laurà M, Horta SM, Descals AM, Díaz MF, Mestre T, Minster S, Monza D, Mütze L, Oehmen M, Townhill J, Orth M, Padieu H, Paterski L, Peppa N, Roedig V, Rialland A, Røren N, Šašinková P, Seliverstov Y, Cubillo PT, van Walsem MR, Wright A, Silva WV, Witjes Anné MN, Yudina E, Zielonka D, Zielonka E, Zinzi P, Herranhof B, Holl A, Kapfhammer HP, Koppitz M, Magnet M, Otti D, Painold A, Reisinger K, Scheibl M, Hecht K, Lilek S, Müller N, Schöggl H, Ullah J, Ribaï P, Boogaerts A, van Reijen D, Klempíř J, Majerová V, Roth J, Hjermind L, Jacobsen O, Vinthev Jensen T, Larsen IU, Stockholm J, Hiivola H, Martikainen K, Tuuha K, Ignatius J, Kärppä M, Åman J, Mustonen A, Kajula O, Santala M, Allain P, Guérid MA, Gohier B, Olivier A, Prundean A, Scherer Gagou C, Verny C, Bost M, Babiloni B, Debruxelles S, Duché C, Goizet C, Lafoucrière D, Jameau L, Spampinato U, De Bruycker C, Cabaret M, Carette AS, Defebvre L, Decorte E, Delval A, Delliaux M, Destee A, Dujardin K, Peter M, Plomhouse L, Sablonnière B, Simonin C, Lemaire MH, Manouvrier S, Thibault Tanchou S, Vuillaume I, Krystkowiak P, Duru C, Roussel M, Wannepain S, Berrissoul H, Bellonet M, Courtin F, Mantaux B, Fasquel V, Godefroy O, Azulay JP, Fluchère F, Delfini M, Eusebio A, Mundler L, Longato N, Rudolf G, Steinmetz G, Tranchant C, Wagner C, Zimmermann MA, Marcel C, Andrich J, Ellrichmann G, Hoffmann R, Kaminski B, Saft C, Stamm C, Boelmans K, Ganos C, Goerendt I, Hidding U, Lewerenz J, Münchau A, Schmalfeld J, Stubbe L, Zittel S, Bürk K, Möller JC, Rissling I, Cormio C, Sciruicchio V, Serpino C, de Tommaso M, CAPELLARI, SABINA, CORTELLI, PIETRO, Gallassi R, PODA, ROBERTO, RIZZO, GIOVANNI, Scaglione C, Abbruzzese G, di Poggio MB, Di Maria E, Ferrandes G, Mandich P, Marchese R, Albanese A, Di Bella D, Di Donato S, Gellera C, Genitrini S, Mariotti C, Nanetti L, Paridi D, Soliveri P, Tomasello C, Squitieri F, Elifani F, Maglione V, Di Pardo A, Alberti S, Griguoli A, Amico E, Martino T, Petrollini M, Catalli C, Di Giacopo R, Fasano A, Frontali M, Guidubaldi A, Ialongo T, Jacopini G, Loria G, Piano C, Chiara P, Quaranta D, Romano S, Soleti F, Spadaro M, van Hout MS, van Vugt JP, de Weert A, Bolwijn JJ, Dekker M, Leenders KL, Dumas EM, van den Bogaard SJ, 't Hart EP, van Duijn E, Kremer B, Verstappen CC, Blinkenberg EØ, Hauge E, Tyvoll H, Frich J, Aaserud O, Wehus R, Bjørgo K, Fannemel M, Gørvell P, Lorentzen E, Retterstøl L, Overland T, Stokke B, Bjørnevoll I, Sando SB, Dziadkiewicz A, Nowak M, Robowski P, Sitek E, Slawek J, Soltan W, Szinwelski M, Blaszcyk M, Boczarska Jedynak M, Ciach Wysocka E, Gorzkowska A, Jasinska Myga B, Opala G, Kłodowska Duda G, Stompel D, Banaszkiewicz K, Boćwińska D, Szczudlik A, Rudzinska M, Wójcik M, Dec M, Krawczyk M, Bojakowska Jaremek K, Szczygieł E, Stenwak A, Wasielewska A, Bryl A, Ciesielska A, Klimberg A, Marcinkowski J, Sempołowicz J, Samara H, Wiśniewski B, Janik P, Gogol A, Kwiecinski H, Jamrozik Z, Kaminska A, Antczak J, Jachinska K, Rakowicz M, Richter P, Rola R, Ryglewicz D, Sienkiewicz Jarosz H, Stępniak I, Witkowski G, Zdzienicka E, Sułek A, Krysa W, Stepniak I, Zieora Jakutowicz K, Júlio F, Januário C, Coelho M, Mendes T, Valadas A, Andrade C, Gago M, Garrett C, Guerra MR, Lima J, Massano J, Meireles J, Herrera CD, Garcia PM, Barrero F, Morales B, Cubo E, Mariscal N, Sánchez J, Alonso Frech F, Perez MR, Fenollar M, García RG, Pin Quiroga P, Vázquez Rivera S, Villanueva C, Alegre J, Bascuñana M, Caldentey JG, Ventura MF, Ribas GG, de Yébenes JG, Moreno JL, Ruíz PJ, Martínez Descals A, Artiga MJ, Sánchez V, Guerrero R, Bárcenas AH, Perea MF, Fortuna L, Torres MM, Reinante G, Moreau LV, Barbera MA, Guia DB, Hernanz LC, Catena JL, Ferrer PQ, Carruesco GT, Bas J, Busquets N, Calopa M, Elorza MD, López CD, Durán Sindreu Terol S, Robert MF, Ruíz BG, Casado AG, Martínez IH, Viladrich CM, Cárdenas RP, Roca E, Llesoy JR, Idiago JM, Vergara MR, García SS, Riballo AV, González SG, Guisasola LM, Salvador C, Martín ES, González M, Gorospe A, Legarda I, Arques PN, Rodríguez MJ, Vives B, Gaston I, Martinez Jaurrieta MD, Moreno JM, Peña JC, Avarvarei LD, Bastida AM, Recio MF, Vergé LR, Sánchez VS, Carrillo F, Cáceres MT, Mir P, Suarez MJ, Loutfi G, Olofsson C, Stattin EL, Westman L, Wikström B, Pålhagen SE, Paucar M, Svenningsson P, Reza Soltani TW, Höglund A, Sandström B, Høsterey Ugander U, Fredlund G, Constantinescu R, Neleborn Lingefjärd L, Stebler Y, Kaelin A, Romero I, Schüpbach M, Zaugg SW, Miedzybrodzka Z, Rae D, Downie L, Simpson S, Summers F, Ure A, Jack R, Matheson K, Akhtar S, Crooks J, Curtis A, de Souza J, Rickards H, Wright J, Barker RA, O' Keefe D, Di Pietro A, Fisher K, Goodman A, Hill S, Mason S, Swain R, Guzman NV, Bisson J, Busse M, Butcher C, Clenaghan C, Dunnett S, Handley O, Hunt S, Hughes A, Johnstone C, Jones L, Jones U, Khalil H, Owen M, Price K, Rose LE, Rosser A, Porteous M, Edwards M, Ho C, McGill M, Pearson P, Brockie P, Foster J, Johns N, McKenzie S, Rothery J, Thomas G, Yates S, Burrows L, Fletcher A, Harding A, Laver F, Silva M, Thomson A, Rowett L, Gallantrae D, Longthorpe M, Markova I, Raman A, Hamer S, Yarduiman P, Chu C, Kraus A, Wild S, Musgrave H, Toscano J, Jamieson S, Hobson E, Clayton C, Dipple H, Middleton J, Freire Patino D, Andrews T, Dougherty A, Kavalier F, Golding C, Laing H, Lashwood A, Robertson D, Ruddy D, Whaite A, Santhouse A, Patton M, Peterson M, Rose S, Bruno S, Chu E, Doherty K, Haider S, Hensman D, Lahiri N, Lewis M, Novak M, Patel A, Robertson N, Rosser E, Taylor R, Warner T, Wild E, Howard L, Sollom A, Snowden J, Thompson J, Jones M, Murphy H, Trender Gerhard I, Rogers D, Bek J, Oughton E, Johnson L, Hare M, Arran N, Verstraelen N, Partington Jones L, Huson S, Stopford C, Westmoreland L, Davidson J, Morgan K, Savage L, Singh B, Komati S, Nemeth AH, Armstrong R, Valentine R, Siuda G, Harrison D, Hughes M, Parkinson A, Soltysiak B, Bandmann O, Bradbury A, Gill P, Fairtlough H, Fillingham K, Foustanos I, Kazoka M, O' Donovan K, Taylor C, Tidswell K, Quarrell O, Metzger S, Walter C, Riess O, Roos RA, Nielsen JE, Craufurd D, Nguyen HP, REGISTRY Investigators of the European Huntington’s Disease Network:Bachoud-Lévi AC, Bentivoglio AR, Biunno I, Bonelli RM, Burgunder JM, Dunnett SB, Ferreira JJ, Handley OJ, Heiberg A, Illmann T, Landwehrmeyer G, Levey J, Ramos-Arroyo MA, Nielsen J, Koivisto SP, Päivärinta M, Sebastián AR, Tabrizi S, Vandenberghe W, Verellen-Dumoulin C, Zaremba J, Uhrová T, Wahlström J, Barth K, Correia-Guedes L, Finisterra AM, Garde MB, Bos R, Betz S, Callaghan J, Fullam R, Ecker D, Nielsen MG, Hvalstedt C, Held C, Koppers K, Laurà M, Horta SM, Descals AM, Díaz MF, Mestre T, Minster S, Monza D, Mütze L, Oehmen M, Townhill J, Orth M, Padieu H, Paterski L, Peppa N, Roedig V, Rialland A, Røren N, Šašinková P, Seliverstov Y, Cubillo PT, van Walsem MR, Wright A, Silva WV, Witjes-Anné MN, Yudina E, Zielonka D, Zielonka E, Zinzi P, Herranhof B, Holl A, Kapfhammer HP, Koppitz M, Magnet M, Otti D, Painold A, Reisinger K, Scheibl M, Hecht K, Lilek S, Müller N, Schöggl H, Ullah J, Ribaï P, Boogaerts A, van Reijen D, Klempíř J, Majerová V, Roth J, Hjermind L, Jacobsen O, Vinthev-Jensen T, Larsen IU, Stockholm J, Hiivola H, Martikainen K, Tuuha K, Ignatius J, Kärppä M, Åman J, Mustonen A, Kajula O, Santala M, Allain P, Guérid MA, Gohier B, Olivier A, Prundean A, Scherer-Gagou C, Verny C, Bost M, Babiloni B, Debruxelles S, Duché C, Goizet C, Lafoucrière D, Jameau L, Spampinato U, De Bruycker C, Cabaret M, Carette AS, Defebvre L, Decorte E, Delval A, Delliaux M, Destee A, Dujardin K, Peter M, Plomhouse L, Sablonnière B, Simonin C, Lemaire MH, Manouvrier S, Thibault-Tanchou S, Vuillaume I, Krystkowiak P, Duru C, Roussel M, Wannepain S, Berrissoul H, Bellonet M, Courtin F, Mantaux B, Fasquel V, Godefroy O, Azulay JP, Fluchère F, Delfini M, Eusebio A, Mundler L, Longato N, Rudolf G, Steinmetz G, Tranchant C, Wagner C, Zimmermann MA, Marcel C, Andrich J, Ellrichmann G, Hoffmann R, Kaminski B, Saft C, Stamm C, Boelmans K, Ganos C, Goerendt I, Hidding U, Lewerenz J, Münchau A, Schmalfeld J, Stubbe L, Zittel S, Bürk K, Möller JC, Rissling I, Cormio C, Sciruicchio V, Serpino C, de Tommaso M, Capellari S, Cortelli P, Gallassi R, Poda R, Rizzo G, Scaglione C, Abbruzzese G, di Poggio MB, Di Maria E, Ferrandes G, Mandich P, Marchese R, Albanese A, Di Bella D, Di Donato S, Gellera C, Genitrini S, Mariotti C, Nanetti L, Paridi D, Soliveri P, Tomasello C, Squitieri F, Elifani F, Maglione V, Di Pardo A, Alberti S, Griguoli A, Amico E, Martino T, Petrollini M, Catalli C, Di Giacopo R, Fasano A, Frontali M, Guidubaldi A, Ialongo T, Jacopini G, Loria G, Piano C, Chiara P, Quaranta D, Romano S, Soleti F, Spadaro M, van Hout MS, van Vugt JP, de Weert A, Bolwijn JJ, Dekker M, Leenders KL, Dumas EM, van den Bogaard SJ, 't Hart EP, van Duijn E, Kremer B, Verstappen CC, Blinkenberg EØ, Hauge E, Tyvoll H, Frich J, Aaserud O, Wehus R, Bjørgo K, Fannemel M, Gørvell P, Lorentzen E, Retterstøl L, Overland T, Stokke B, Bjørnevoll I, Sando SB, Dziadkiewicz A, Nowak M, Robowski P, Sitek E, Slawek J, Soltan W, Szinwelski M, Blaszcyk M, Boczarska-Jedynak M, Ciach-Wysocka E, Gorzkowska A, Jasinska-Myga B, Opala G, Kłodowska-Duda G, Stompel D, Banaszkiewicz K, Boćwińska D, Szczudlik A, Rudzinska M, Wójcik M, Dec M, Krawczyk M, Bojakowska-Jaremek K, Szczygieł E, Stenwak A, Wasielewska A, Bryl A, Ciesielska A, Klimberg A, Marcinkowski J, Sempołowicz J, Samara H, Wiśniewski B, Janik P, Gogol A, Kwiecinski H, Jamrozik Z, Kaminska A, Antczak J, Jachinska K, Rakowicz M, Richter P, Rola R, Ryglewicz D, Sienkiewicz-Jarosz H, Stępniak I, Witkowski G, Zdzienicka E, Sułek A, Krysa W, Stepniak I, Zieora-Jakutowicz K, Júlio F, Januário C, Coelho M, Mendes T, Valadas A, Andrade C, Gago M, Garrett C, Guerra MR, Lima J, Massano J, Meireles J, Herrera CD, Garcia PM, Barrero F, Morales B, Cubo E, Mariscal N, Sánchez J, Alonso-Frech F, Perez MR, Fenollar M, García RG, Pin Quiroga P, Vázquez Rivera S, Villanueva C, Alegre J, Bascuñana M, Caldentey JG, Ventura MF, Ribas GG, de Yébenes JG, Moreno JL, Ruíz PJ, Martínez-Descals A, Artiga MJ, Sánchez V, Guerrero R, Bárcenas AH, Perea MF, Fortuna L, Torres MM, Reinante G, Moreau LV, Barbera MA, Guia DB, Hernanz LC, Catena JL, Ferrer PQ, Carruesco GT, Bas J, Busquets N, Calopa M, Elorza MD, López CD, Durán-Sindreu Terol S, Robert MF, Ruíz BG, Casado AG, Martínez IH, Viladrich CM, Cárdenas RP, Roca E, Llesoy JR, Idiago JM, Vergara MR, García SS, Riballo AV, González SG, Guisasola LM, Salvador C, Martín ES, González M, Gorospe A, Legarda I, Arques PN, Rodríguez MJ, Vives B, Gaston I, Martinez-Jaurrieta MD, Moreno JM, Peña JC, Avarvarei LD, Bastida AM, Recio MF, Vergé LR, Sánchez VS, Carrillo F, Cáceres MT, Mir P, Suarez MJ, Loutfi G, Olofsson C, Stattin EL, Westman L, Wikström B, Pålhagen SE, Paucar M, Svenningsson P, Reza-Soltani TW, Höglund A, Sandström B, Høsterey-Ugander U, Fredlund G, Constantinescu R, Neleborn-Lingefjärd L, Stebler Y, Kaelin A, Romero I, Schüpbach M, Zaugg SW, Miedzybrodzka Z, Rae D, Downie L, Simpson S, Summers F, Ure A, Jack R, Matheson K, Akhtar S, Crooks J, Curtis A, de Souza J, Rickards H, Wright J, Barker RA, O' Keefe D, Di Pietro A, Fisher K, Goodman A, Hill S, Mason S, Swain R, Guzman NV, Bisson J, Busse M, Butcher C, Clenaghan C, Dunnett S, Handley O, Hunt S, Hughes A, Johnstone C, Jones L, Jones U, Khalil H, Owen M, Price K, Rose LE, Rosser A, Porteous M, Edwards M, Ho C, McGill M, Pearson P, Brockie P, Foster J, Johns N, McKenzie S, Rothery J, Thomas G, Yates S, Burrows L, Fletcher A, Harding A, Laver F, Silva M, Thomson A, Rowett L, Gallantrae D, Longthorpe M, Markova I, Raman A, Hamer S, Yarduiman P, Chu C, Kraus A, Wild S, Musgrave H, Toscano J, Jamieson S, Hobson E, Clayton C, Dipple H, Middleton J, Freire-Patino D, Andrews T, Dougherty A, Kavalier F, Golding C, Laing H, Lashwood A, Robertson D, Ruddy D, Whaite A, Santhouse A, Patton M, Peterson M, Rose S, Bruno S, Chu E, Doherty K, Haider S, Hensman D, Lahiri N, Lewis M, Novak M, Patel A, Robertson N, Rosser E, Taylor R, Warner T, Wild E, Howard L, Sollom A, Snowden J, Thompson J, Jones M, Murphy H, Trender-Gerhard I, Rogers D, Bek J, Oughton E, Johnson L, Hare M, Arran N, Verstraelen N, Partington-Jones L, Huson S, Stopford C, Westmoreland L, Davidson J, Morgan K, Savage L, Singh B, Komati S, Nemeth AH, Armstrong R, Valentine R, Siuda G, Harrison D, Hughes M, Parkinson A, Soltysiak B, Bandmann O, Bradbury A, Gill P, Fairtlough H, Fillingham K, Foustanos I, Kazoka M, O' Donovan K, Taylor C, Tidswell K, and Quarrell O

Subjects
Adult, Adolescent, Genotype, Huntington, Ubiquitin-Activating Enzymes, Autophagy-Related Protein 7, Polymorphism, Single Nucleotide, Cohort Studies, Young Adult, Gene Frequency, V471A polymorphism, Genetics, Autophagy, Humans, Age of Onset, Child, Biology, Genetic Association Studies, Aged, Clinical Genetics, Evolutionary Biology, Computational Biology, Human Genetics, Middle Aged, Huntington Disease, Neurology, Italy, Autosomal Dominant, Child, Preschool, Genetic Polymorphism, Medicine, Population Genetics, gene ATG7, Research Article
Abstract

The cause of Huntington disease (HD) is a polyglutamine repeat expansion of more than 36 units in the huntingtin protein, which is inversely correlated with the age at onset of the disease. However, additional genetic factors are believed to modify the course and the age at onset of HD. Recently, we identified the V471A polymorphism in the autophagy-related gene ATG7, a key component of the autophagy pathway that plays an important role in HD pathogenesis, to be associated with the age at onset in a large group of European Huntington disease patients. To confirm this association in a second independent patient cohort, we analysed the ATG7 V471A polymorphism in additional 1,464 European HD patients of the "REGISTRY" cohort from the European Huntington Disease Network (EHDN). In the entire REGISTRY cohort we could not confirm a modifying effect of the ATG7 V471A polymorphism. However, analysing a modifying effect of ATG7 in these REGISTRY patients and in patients of our previous HD cohort according to their ethnic origin, we identified a significant effect of the ATG7 V471A polymorphism on the HD age at onset only in the Italian population (327 patients). In these Italian patients, the polymorphism is associated with a 6-years earlier disease onset and thus seems to have an aggravating effect. We could specify the role of ATG7 as a genetic modifier for HD particularly in the Italian population. This result affirms the modifying influence of the autophagic pathway on the course of HD, but also suggests population-specific modifying mechanisms in HD pathogenesis.

Published
2013

42. Recognition disorders for famous faces and voices: a review of the literature and normative data of a new test battery

Author

Quaranta, D, Piccininni, C, Carlesimo, G, Luzzi, S, Marra, C, Papagno, C, Trojano, L, Gainotti, G, Carlesimo, GA, PAPAGNO, COSTANZA, Gainotti, G., Quaranta, D, Piccininni, C, Carlesimo, G, Luzzi, S, Marra, C, Papagno, C, Trojano, L, Gainotti, G, Carlesimo, GA, PAPAGNO, COSTANZA, and Gainotti, G.

Abstract

Several anatomo-clinical investigations have shown that familiar face recognition disorders not due to high level perceptual defects are often observed in patients with lesions of the right anterior temporal lobe (ATL). The meaning of these findings is, however, controversial, because some authors claim that these patients show pure instances of modality-specific ‘associative prosopagnosia’, whereas other authors maintain that in these patients voice recognition is also impaired and that these patients have a ‘multimodal person recognition disorder’. To solve the problem of the nature of famous faces recognition disorders in patients affected by right ATL lesions, it is therefore very important to verify with formal tests if these patients are or are not able to recognize others by voice, but a direct comparison between the two modalities is hindered by the fact that voice recognition is more difficult than face recognition. To circumvent this difficulty, we constructed a test battery in which subjects were requested to recognize the same persons (well-known at the national level) through their faces and voices, evaluating familiarity and identification processes. The present paper describes the ‘Famous People Recognition Battery’ and reports the normative data necessary to clarify the nature of person recognition disorders observed in patients affected by right ATL lesions.

Published
2016

43. Usefulness of an Integrated Analysis of Different Memory Tasks to Predict the Progression from Mild Cognitive Impairment to Alzheimer's Disease: The Episodic Memory Score (EMS)

Author

Marra, Camillo, Gainotti, Guido, Fadda, L., Perri, R., Lacidogna, Giordano, Scaricamazza, E., Piccininni, Chiara, Quaranta, Davide, Marra C. (ORCID:0000-0003-3994-4044), Gainotti G., Lacidogna G., Piccininni C., Quaranta D., Marra, Camillo, Gainotti, Guido, Fadda, L., Perri, R., Lacidogna, Giordano, Scaricamazza, E., Piccininni, Chiara, Quaranta, Davide, Marra C. (ORCID:0000-0003-3994-4044), Gainotti G., Lacidogna G., Piccininni C., and Quaranta D.

Abstract

Taking into account both the severity and the consistency of performances obtained on memory tests by patients with amnestic mild cognitive impairment (aMCI) could improve the power to predict their progression to Alzheimer's disease. For this purpose, we constructed the Episodic Memory Score (EMS), which is obtained by subdividing in tertiles performances obtained at baseline in verbal (RAVLT) and visual episodic memory (Rey-Osterrieth Figure-delayed recall) and giving a score ranging from 1 (worst result) to 3 (best result) to results falling within each tertile. The EMS was computed for each patient by summing the tertile score obtained on each memory task, so that the total score ranged from 4 (worst performance) to 12 (best performance). The aMCI sample consisted of 198 subjects who completed the two-year follow-up, at the end of which 55 subjects had converted to dementia. The mean EMS score obtained by aMCI converters was significantly lower than that of aMCI-stable patients. In detecting conversion to dementia, the comparison between EMS and individual memory scores obtained at baseline was made by computing ROC curves, and estimating the respective area under the curve (AUC). The EMS had a larger AUC than the individual memory scores. At baseline aMCI converters performed worse than non-converters not only on memory tasks, but also on executive functions tasks. However, in a multiple variables logistic regression analysis in which all scores showing statistically significant differences between aMCI-converters and aMCI-stable were entered, the EMS was the only reliable predictor of progression from aMCI to dementia.

Published
2016

44. Observing Huntington's disease: the European Huntington's Disease Network's REGISTRY

Author

Orth, M, Handley, Oj, Schwenke, C, Dunnett, S, Wild, Ej, Tabrizi, Sj, Landwehrmeyer, Gb, Bachoud Lévi AC, Bentivoglio, Ar, Biunno, I, Bonelli, R, Burgunder, Jm, Dunnett, Sb, Ferreira, Jj, Giuliano, J, Heiberg, A, Illmann, T, van Kammen, D, Landwehrmeye, Gb, Levey, J, Nielsen, Je, Päivärinta, M, Roos, Ra, Sebastián, Ar, Vandenberghe, W, Verellen Dumoulin, C, Zaremba, J, Uhrova, T, Wahlström, J, Wallner, M, Barth, K, Guedes, Lc, Finisterra, Am, Garde, Mb, Bos, R, Burg, S, Ecker, D, Held, C, Koppers, K, Laurà, M, Descals, Am, Mclean, T, Mestre, T, Minster, S, Monza, D, Townhill, J, Padieu, H, Paterski, L, Peppa, N, Koivisto, Sp, Rialland, A, Røren, N, Sasinková, P, Cubillo, Pt, Tritsch, C, van Walsem MR, Witjes Ané MN, Yudina, E, Zielonka, D, Zielonka, E, Zinzi, P, Bonelli, Rm, Herranhof, B, Holl, A, Kapfhammer, Hp, Koppitz, M, Magnet, M, Otti, D, Painold, A, Reisinger, K, Scheibl, M, Hecht, K, Lilek, S, Müller, N, Schöggl, H, Ullah, J, Brugger, F, Hepperger, C, Hotter, A, Mahlknecht, P, Nocker, M, Seppi, K, Wenning, G, Buratti, L, Hametner, Em, Holas, C, Hussl, A, Mair, K, Poewe, W, Wolf, E, Zangerl, A, Braunwarth, Em, Sinadinosa, D, Walleczek, Am, Ladurner, G, Staffen, W, Ribaï, P, Flamez, A, Morez, V, de Raedt, S, Boogaerts, A, van Reijen, D, Klempíř, J, Kucharík, M, Roth, J, Šenkárová, Z, Hasholt, L, Hjermind, Le, Jakobsen, O, Nørremølle, A, Sørensen, Sa, Stokholm, J, Nielsen, J, Hiivola, H, Martikainen, K, Tuuha, K, Peippo, M, Sipponen, M, Ignatius, J, Kärppä, M, Åman, J, Santala, M, Allain, P, Guérid, Ma, Gohier, B, Olivier, A, Prundean, A, Scherer Gagou, C, Verny, C, Babiloni, B, Debruxelles, S, Goizet, C, Lafoucrière, D, De Bruycker, C, Carette, As, Decorte, E, Delval, A, Delliaux, M, Dujardin, K, Peter, M, Plomhouse, L, Simonin, C, Thibault Tanchou, S, Bellonet, M, Duru, C, Krystkowiak, P, Roussel, M, Wannepain, S, Azulay, Jp, Chabot, C, Delphini, M, Eusebio, A, Grosjean, H, Mundler, L, Nowak, M, Rudolf, G, Steinmetz, G, Tranchant, C, Wagner, C, Zimmermann, 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Thomson, J, Toscano, J, Wild, S, Yardumian, P, Bourne, C, Clayton, C, Dipple, H, Clapton, J, Grant, D, Hallam, C, Middleton, J, Murch, A, Patino, D, Bate, L, Pate, L, Andrews, T, Dougherty, A, Kavalier, F, Golding, C, Lashwood, A, Robertson, D, Ruddy, D, Whaite, A, Patton, M, Peterson, M, Rose, S, Bruno, S, Chu, E, Doherty, K, Henley, S, Lahiri, N, Novak, M, Patel, A, Read, J, Rosser, E, Say, M, Tabrizi, S, Taylor, R, Warner, T, Wild, E, Arran, N, Callaghan, J, Craufurd, D, Fullam, R, Howard, L, Huson, S, Oughton, E, Partington Jones, L, Snowden, J, Sollom, A, Stopford, C, Thompson, J, Trender Gerhad, I, Verstraelen, N, Westmoreland, L, Nemeth, Ah, Siuda, G, Harrison, D, Hughes, M, Parkinson, A, Soltysiak, B, Burn, J, Coleman, C, Majeed, T, Verstraelen Ritchie, N, Bandmann, O, Bradbury, A, Gill, P, Fairtlough, H, Fillingham, K, Foustanos, I, O'Donovan, K, Tidswell, K, Quarrell, O., Faculty of Economic and Social Sciences and Solvay Business School, Neurology, Clinical sciences, Neuroprotection & Neuromodulation, Orth M., European Huntington's Disease Network, Handley O.J., Schwenke C., Dunnet S., Wild E.J., Tabrizi S.J., Landwehrmeyer G.B., Capellari S., Cortelli P., Gallassi R., Poda R., Rizzo G., and Scaglione C.

Subjects
Gerontology, medicine.medical_specialty, Neurology, International Cooperation, Disease, Irritability, Data Collection/methods, Huntington's disease, medicine, Humans, Registries, Psychiatry, Suicidal ideation, Disease burden, business.industry, Data Collection, medicine.disease, Europe, Huntington Disease, Psychiatry and Mental health, European Huntington's Disease Network, Surgery, Observational study, Neurology (clinical), medicine.symptom, business
Abstract

BACKGROUND: Huntington's disease (HD) is a rare triplet repeat (CAG) disorder. Advanced, multi-centre, multi-national research frameworks are needed to study simultaneously multiple complementary aspects of HD. This includes the natural history of HD, its management and the collection of clinical information and biosamples for research. METHODS: We report on cross-sectional data of the first 1766 participants in REGISTRY, the European Huntington's Disease Network's (EHDN), multi-lingual, multi-national prospective observational study of HD in Europe. Data collection (demographics, phenotype, genotype, medication, co-morbidities, biosamples) followed a standard protocol. RESULTS: Phenotype, and the HD genotype, of manifest HD participants across different European regions was similar. Motor onset was most common (48%) with a non-motor onset in more than a third of participants. Motor signs increased, and cognitive abilities and functional capacity declined as the disease burden (CAGn-35.5) X age) increased. A life-time history of behavioural symptoms was common, but the behavioural score was not related to disease burden. One fifth of participants had severe psychiatric problems, e.g. suicidal ideation and attempts, and/or irritability/aggression, with psychosis being less common. Participants on anti-dyskinetic medication had a higher motor and lower cognitive score, were older, and more prone to physical trauma. A higher motor and a lower cognitive score predicted more advanced disease. CONCLUSIONS: The unparalleled collection of clinical data and biomaterials within the EHDN's REGISTRY can expedite the search for disease modifiers (genetic and environmental) of age at onset and disease progression that could be harnessed for the development of novel treatments.

Published
2011

45. Cross-sectional clinical, neuropsychological, neuroimaging, and neurophysiological characterization of mild cognitive impairment patients in WP5 PharmaCog/E-ADNI study

Author

Galluzzi, S., Marizzoni, M., Babiloni, C., Bartres-Faz, D., Blin, O., Bordet, R., Bosch, B., Anna, F., Didic, M., Farotti, L., Forloni, G., Jovicich, J., Marra, C., Marzano, N., Molinuevo, J. L., Nobili, F., Pariente, J., Parnetti, L., Payoux, P., Picco, A., Quaranta, D., Ranjeva, J. P., Roccatagliata, L., Rossini, P. M., Salvadori, N., Schonknecht, P., Andrea Soricelli, Tsolaki, M., Vecchio, F., Visser, P. J., Wiltfang, J., Frisoni, G. B., and Pharmacog, Consortium

Subjects
Medizin, ComputingMethodologies_GENERAL
Abstract

Poster Abstract

Published
2014

46. Study on the effectiveness of a nifedipine gel for treatment of Raynaud's phenomenon

Author

Foti, C., Quaranta, D., Pepe, M. L., Morea, G., Mastropasqua, D., D Amore, M., Mastrangelo, F., Tetè, S., Grassi, F. R., Andrea Ballini, Salini, V., Amicis, D., Scagliusi, P., Lutiis, M. A., Caraffa, A., Cerulli, G., Foti, C, Quaranta, D, Pepe, Ml, Morea, G, Mastropasqua, D, D'Amore, M, Mastrangelo, Filiberto, S., Tete', Grassi, Fr, Ballini, A, Salini, V, DE AMICIS, D, Scagliusi, P, DE LUTIIS, Ma, Caraffa, A, and Cerulli, G.

Published
2006

48. Cortical connectivity and memory performance in cognitive decline: a study via graph theory from EEG data

Author

Vecchio, F, Miraglia, F, Quaranta, D, Granata, G, Romanello, R, Marra, Camillo, Bramanti, P, Rossini, Paolo Maria, Marra, Camillo (ORCID:0000-0003-3994-4044), Rossini, Paolo Maria (ORCID:0000-0003-2665-534X), Vecchio, F, Miraglia, F, Quaranta, D, Granata, G, Romanello, R, Marra, Camillo, Bramanti, P, Rossini, Paolo Maria, Marra, Camillo (ORCID:0000-0003-3994-4044), and Rossini, Paolo Maria (ORCID:0000-0003-2665-534X)

Abstract

Functional brain abnormalities including memory loss are found to be associated with pathological changes in connectivity and network neural structures. Alzheimer's Disease (AD) interferes with memory formation from the molecular level, to synaptic functions and neural networks organization. Here, we determined whether brain connectivity of resting state networks correlate with memory in patients affected by AD and in subjects with mild cognitive impairment (MCI). 144 subjects were recruited: 70 AD (MMSE Mini Mental State Evaluation 21.4), 50 MCI (MMSE 25.2) and 24 healthy subjects (MMSE 29.8). Undirected and weighted cortical brain network was built to evaluate graph core measures to obtain Small World parameters. eLORETA lagged linear connectivity as extracted by EEG signals was used to weight the network. A high statistical correlation between Small World and memory performance was found. Namely, higher Small World characteristic in EEG gamma frequency band during resting state, better performance in short term memory as evaluated by the digit span tests. Such Small World pattern might represent a biomarker of working memory impairment in older people both in physiological and pathological conditions.

Published
2015

50. β-Defensin Genomic Copy Number Does Not Influence the Age of Onset in Huntington's Disease

Author

Vittori, A, Orth, M, Roos, Ra, Outeiro, Tf, Giorgini, F, Hollox, Ej, Bachoud-Levi, Ac, Bentivoglio, Ar, Biunno, I, Bonelli, Rm, Burgunder, Jm, Dunnett, Sb, Ferreira, Jj, Handley, Oj, Heiberg, A, Illmann, T, Landwehrmeyer, Gb, Levey, J, Martinez-Jaurrieta, Md, Nielsen, Je, Pro Koivisto, S, Piiiviirinta, M, Sebastian, Ar, Tabrizi, Sj, Vandenberghe, W, Verellen-Dumoulin, C, Zaremba, J, Uhrova, T, Wahlstrom, J, Barth, K, Correia-Guedes, L, Finisterra, Am, Bascuiiana Garde, M, Betz, S, Bos, R, Ecker, D, Held, C, Koppers, K, Laura, M, Descals, Am, Mestre, T, Monza, D, Townhill, J, Padieu, H, Paterski, L, Peppa, N, Rialland, A, Røren, N, Sasinkova, P, Trigo Cubillo, P, van Walsem, M, Witjes-Ane, Mn, Yudina, E, Zielonka, D, Zielonka, E, Zinzi, P, Herranhof, B, Hod, A, Kapfhammer, Hp, Koppitz, M, Magnet, M, Otti, D, Painold, A, Reisinge, K, Scheib, M, Hecht, K, Lilek, S, Muller, N, Schoggl, H, Ullah, J, Ribal, P, Klempff, J, Majerova, V, Roth, J, Hjermind, Le, Jakobsen, O, Vinthev-Jensen, T, Larsen, Iu, Stokholm, J, Hiivola, H, Martikainen, K, Tuuha, K, Santala, M, Milkereit, E, Kosinski, Cm, Probst, D, Reetz, K, Sass, C, Schiefer, J, Schlangen, C, Werner, Cj, Andrich, J, Ellrichmann, G, Hoffmann, R, Kaminski, B, Saft, C, Stamm, C, Lange, H, Lohle, M, Schmidt, S, Storch, A, Wolz, A, Wolz, M, Capetian, P, Lambeck, J, Zucker, B, Boelmans, K, Ganos, C, Hidding, U, Lewerenz, J, Miinchau, A, Schmalfeld, J, Stubbe, L, Zittel, S, Heinicke, W, Ribbat, M, Longinus, B, Miihlau, M, Peinemann, A, Stiidtler, M, Weindl, A, Winkelmann, J, Ziegler, C, Bechtel, N, Beckmann, H, Bohlen, S, Holzner, E, Reilmann, R, Rohm, S, Rumpf, S, Schepers, S, Dose, M, Leythaeuser, G, Marquard, R, Raab, T, Schrenk, C, Schuierer, M, Buck, A, Eschenbach, C, Landwehrmeyer, B, Lezius, F, Nepper, S, Niess, A, Schwenk, D, Siissmuth, S, Trautmann, S, Weydt, P, Cormio, C, de Tommaso, M, Sciruicchio, V, Serpino, C, Ghelli, E, Ginestroni, A, Bertini, E, Massaro, F, Mechi, C, Paganini, M, Piacentini, S, Pradella, S, Romoli, Am, Sorbi, S, Abbruzzese, G, Ferrandes, Mb, Di Maria, E, Ferrandes, G, Mandich, P, Marchese, R, Di Donato, S, Gellera, C, Genitrini, S, Mariotti, C, Nanetti, L, Soliveri, P, Tomasello, C, De Michele, G, Dimaio, L, Massarelli, M, Rinaldi, C, Roca, A, Rossi, F, Russo, Cv, Salvatore, E, Sorrentino, P, Tucci, T, De Nicola, A, Elifani, F, Petrollini, M, Martino, T, Lovo, F, Squitieri, F, Catalli, C, Di Giacopo, R, Fasano, A, Frontali, M, Guidubaldi, A, Ialongo, T, Jacopini, G, Loria, G, Piano, C, Piccininni, C, Quaranta, D, Romano, S, Soleti, F, Spadaro, M, van Hout MS, van Vugt JP, de Weert, A, Bolwijn, Jj, Neurologie, P, Dekker, M, Leenders, Kl, van Oostrom JC, Dumas, Em, Jurgens, Ck, van den Bogaard SJ, 't Hart EP, Kremer, B, Verstappen, Cc, van Walsem MR, Frich, J, Aaserud, O, Wehus, R, Bjørgo, K, Fannemel, M, Gørvell, P, Lorentzen, E, Koivisto, Sp, Retterstøl, L, Stokke, B, Bjørnevoll, I, Sando, Sb, Dziadkiewicz, A, Nowak, M, Robowski, P, Sitek, E, Slawek, J, Soltan, W, Szinwelski, M, Blaszczyk, M, Boczarska-Jedynak, M, Ciach-Wysocka, E, Gorzkowska, A, Jasinska-Myga, B, Opala, G, Klodowska, G, Stompel, D, Banaszkiewicz, K, Boewiriska, D, Bojakowska-Jaremek, K, Neurologii, A, Dec, M, Krawczyk, M, Rudziriska, M, Szczudlik, A, Szczygiel, E, Wasielewska, A, Wojcik, M, Bryl, A, Ciesielska, A, Klimberg, A, Marcinkowski, J, Samara, H, Sempolowicz, J, Janik, P, Kalbarczyk, A, Kwiecinski, H, Jamrozik, Z, Antczak, J, Jachinska, K, Krysa, W, Rakowicz, M, Richter, P, Rola, R, Ryglewicz, D, Sienkiewicz-Jarosz, H, Sulek, A, Witkowski, G, Zdzienicka, E, Zieora-Jakutowicz, K, Coelho, M, Mendes, T, Valadas, A, Andrade, C, Joao, Ps, Gago, M, Garrett, C, Guerra, Mr, Solis, P, Herrera, Cd, Garcia, Pm, Cubo, E, Mariscal, N, Sanchez, J, Barrero, Fj, Alonso-Frech, F, Perez, Mr, Fenollar, M, Garda, R, Rivera, Sv, Villanueva, C, Alegre, J, Bascuiiana, M, Ventura, Mf, Ribas, Gg, Moreno, Jl, Cubillo, Pt, Rufz, Pj, Frech, Fa, Dfaz, J, Guerrero, R, Artiga, Mj, Sanchez, V, Alcaraz, Lf, de Ia Arrixaca, V, Manzanares, S, Perea, Mf, Reinante, G, Arrixaca, Ia, Torres, Mm, Moreau, Lv, Barbera, Ma, Guia, Db, Hernanz, Lc, Catena, Jl, Sebastian, R, Ferrer, Pq, Carruesco, Gt, Bas, J, Busquets, N, Calopa, M, Buongiorno, Mt, Munoz, E, Elorza, Md, Lopez, Cd, Terol, Ds, Robert, Mf, Rufz, Bg, Casado, Ag, Martinez, Ih, Viladrich, Cm, Pons, R, Roca, E, Llesoy, Jr, Idiago, Jm, Vergara, Mr, Garcia, Ss, Riballo, Av, Hoglund, A, Palhagen, Se, Paucar, M, Sandstrom, B, Svenningsson, P, Reza-Soltani, Tw, Kaelin, A, Romero, I, Schupbach, M, Stebler, Y, Zaugg, Sw, Akhtar, S, Crooks, J, Curtis, A, de Souza, J, Rickards, H, Wright, J, Barker, Ra, Di Pietro, A, Fisher, K, Goodman, Ao, Hill, S, Kershaw, A, Mason, S, O'Keefe, D, Swain, R, Guzman, Nv, Busse, M, Butcher, C, Clenaghan, C, Dunnett, S, Fullam, R, Jones, L, Jones, U, Khalil, H, Minster, S, Owen, M, Hunt, S, Price, K, Rosser, A, Edwards, M, Ho, C, Mcgill, M, Pearson, P, Porteous, M, Brockie, P, Foster, J, Johns, N, Mckenzie, S, Rothery, J, Thomas, G, Yates, S, Burrows, L, Chu, C, Fletcher, A, Gallantrae, D, Harding, A, Hamer, S, Kraus, A, Laver, F, Longthorpe, M, Markova, I, Raman, A, Silva, M, Thomson, A, Wild, S, Yardumian, P, Hobson, E, Jamieson, S, Musgrave, H, Rowett, L, Toscano, J, Clayton, C, Dipple, H, Middleton, J, Patino, D, Andrews, T, Dougherty, A, Kavalier, F, Golding, C, Laing, H, Lashwood, A, Robertson, D, Ruddy, D, Whaite, A, Santhouse, A, Bruno, S, Doherty, K, Lahiri, N, Novak, M, Patel, A, Rosser, E, Tabrizi, S, Taylor, R, Warner, T, Wild, E, Arran, N, Bek, J, Callaghan, J, Craufurd, D, Howard, L, Hare, M, Huson, S, Johnson, L, Jones, M, Murphy, H, Oughton, E, Partington-Janes, L, Rogers, D, Snowden, J, Sollom, A, Stopford, C, Thompson, J, Trender-Gerhard, I., Vittori, Angelica, Orth, Michael, Roos, Raymund A C, Outeiro, Tiago F, Giorgini, F, Russo, Cinzia Valeria, Flaviano, and Hollox, Edward J

Subjects
Adult, Male, Age of Onset, DNA Copy Number Variations, Female, Genotype, Humans, Huntington Disease, Middle Aged, beta-Defensins, Disease, Biology, Genetic modifier, Article, Pathogenesis, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Huntington's disease, medicine, Copy-number variation, Defensin, 030304 developmental biology, Genetics, 0303 health sciences, copy number variation, inflammation, Acquired immune system, medicine.disease, 3. Good health, Beta defensin, Neurology (clinical), Age of onset, 030217 neurology & neurosurgery
Abstract

Background: Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by the abnormal expansion of a CAG triplet repeat tract in the huntingtin gene. While the length of this CAG expansion is the major determinant of the age of onset (AO), other genetic factors have also been shown to play a modulatory role. Recent evidence suggests that neuroinflammations is a pivotal factor in the pathogenesis of HD, and that targeting this process may have important therapeutic ramifications. The human β-defensin 2 (hBD2)- encoded by DEFB4- is an antimicrobial peptide that exhibits inducible expression in astrocytes during inflammation and is an important regulator of innate and adaptive immune response. Therefore, DEFB4 may contribute to the neuroinflammatory processes observed in HD. Objective: In this study we tested the hypothesis that copy number variation (CNV) of the β-defensin region, including DEFB4, modifies the AO in HD. Methods and results: We genotyped β-defensin CNV in 490 HD individuals using the paralogue ratio test and found no association between β-defensin CNV and onset of HD. Conclusions: We conclude that it is unlikely that DEFB4 plays a role in HD pathogenesis.

Published
2013

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