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1. Effect modification of the association between total cigarette smoking and ALS risk by intensity, duration and time-since-quitting: Euro-MOTOR

Author: Peters, S, Vlaanderen, J, Portengen, L, Vermeulen, R, Visser, A, Veldink, J, Van Den Berg, L, D'Ovidio, F, Chio, A, Beghi, E, Pupillo, E, Logroscino, G, Hardiman, O, Van Der Kooi, A, Raaphorst, J, Calvo, A, Moglia, C, Casale, F, Fuda, G, Canosa, A, Manera, U, Bombaci, A, Grassano, M, Vasta, R, Salamone, P, Marrali, G, Iazzolino, B, Mazzini, L, Rooney, J, Heverin, M, Vajda, A, Comi, G, Riva, N, Lunetta, C, Gerardi, F, Filosto, M, Cotelli, M, Rinaldi, F, Chiveri, L, Guaita, M, Perrone, P, Mauro, C, Diamanti, L, Ferrarese, C, Tremolizzo, L, Delodovici, M, Bono, G, Tortelli, R, Zecca, C, Peters S., Vlaanderen J., Portengen L., Vermeulen R., Visser A. E., Veldink J. H., Van Den Berg L. H., D'Ovidio F., Chio A., Beghi E., Pupillo E., Logroscino G., Hardiman O., Van Der Kooi A. J., Raaphorst J., Calvo A., Moglia C., Casale F., Fuda G., Canosa A., Manera U., Bombaci A., Grassano M., Vasta R., Salamone P., Marrali G., Iazzolino B., Mazzini L., Rooney J., Heverin M., Vajda A., Comi G., Riva N., Lunetta C., Gerardi F., Filosto M., Cotelli M. S., Rinaldi F., Chiveri L., Guaita M. C., Perrone P., Mauro C., Diamanti L., Ferrarese C., Tremolizzo L., Delodovici M. L., Bono G., Tortelli R., Zecca C., Peters, S, Vlaanderen, J, Portengen, L, Vermeulen, R, Visser, A, Veldink, J, Van Den Berg, L, D'Ovidio, F, Chio, A, Beghi, E, Pupillo, E, Logroscino, G, Hardiman, O, Van Der Kooi, A, Raaphorst, J, Calvo, A, Moglia, C, Casale, F, Fuda, G, Canosa, A, Manera, U, Bombaci, A, Grassano, M, Vasta, R, Salamone, P, Marrali, G, Iazzolino, B, Mazzini, L, Rooney, J, Heverin, M, Vajda, A, Comi, G, Riva, N, Lunetta, C, Gerardi, F, Filosto, M, Cotelli, M, Rinaldi, F, Chiveri, L, Guaita, M, Perrone, P, Mauro, C, Diamanti, L, Ferrarese, C, Tremolizzo, L, Delodovici, M, Bono, G, Tortelli, R, Zecca, C, Peters S., Vlaanderen J., Portengen L., Vermeulen R., Visser A. E., Veldink J. H., Van Den Berg L. H., D'Ovidio F., Chio A., Beghi E., Pupillo E., Logroscino G., Hardiman O., Van Der Kooi A. J., Raaphorst J., Calvo A., Moglia C., Casale F., Fuda G., Canosa A., Manera U., Bombaci A., Grassano M., Vasta R., Salamone P., Marrali G., Iazzolino B., Mazzini L., Rooney J., Heverin M., Vajda A., Comi G., Riva N., Lunetta C., Gerardi F., Filosto M., Cotelli M. S., Rinaldi F., Chiveri L., Guaita M. C., Perrone P., Mauro C., Diamanti L., Ferrarese C., Tremolizzo L., Delodovici M. L., Bono G., Tortelli R., and Zecca C.
Abstract: Background We investigated the association between cigarette smoking and risk of amyotrophic lateral sclerosis (ALS) in a pooled analysis of population-based case-control studies and explored the independent effects of intensity, duration and time-since-quitting. Methods ALS cases and controls, matched by age, sex and region, were recruited in the Netherlands, Italy and Ireland (∗Euro-MOTOR project). Demographics and detailed lifetime smoking histories were collected through questionnaires. Effects of smoking status, intensity (cigarettes/day), duration (years), pack-years and time-since-quitting (years) on ALS risk were estimated using logistic regression models, adjusting for age, sex, alcohol, education and centre. We further investigated effect modification of the linear effects of pack-years by intensity, duration and time-since-quitting using excess OR (eOR) models. Results Analyses were performed on 1410 cases and 2616 controls. Pack-years were positively associated with ALS risk; OR=1.26 (95%CI: 1.03 to 1.54) for the highest quartile compared with never smokers. This association appeared to be predominantly driven by smoking duration (p trend=0.001) rather than intensity (p trend=0.86), although the trend for duration disappeared after adjustment for time-since-quitting. Time-since-quitting was inversely related to ALS (p trend <0.0001). The eOR decreased with time-since-quitting smoking, until about 10 years prior to disease onset. High intensity smoking with shorter duration appeared more deleterious than lower intensity for a longer duration. Conclusions Our findings provide further support for the association between smoking and ALS. Pack-years alone may be insufficient to capture effects of different smoking patterns. Time-since-quitting appeared to be an important factor, suggesting that smoking may be an early disease trigger.
Published: 2020

2. The diagnostic accuracy of late-life depression is influenced by subjective memory complaints and educational level in an older population in Southern Italy

Author: Lozupone, M., D'Urso, F., Copetti, M., Sardone, R., Arcuti, S., Castellana, F., Galizia, I., Lofano, L., Veneziani, F., Piccininni, C., Barulli, M. R., Grasso, A., Battista, P., Tortelli, R., Capozzo, R., Griseta, C., Doricchi, F., Quaranta, N., Resta, E., Daniele, Antonio, Seripa, D., Solfrizzi, V., Bellomo, Alberto, Logroscino, Giandomenico, Panza, F., Daniele A. (ORCID:0000-0003-1641-5852), Bellomo A., Logroscino G. (ORCID:0000-0003-1301-5343), Lozupone, M., D'Urso, F., Copetti, M., Sardone, R., Arcuti, S., Castellana, F., Galizia, I., Lofano, L., Veneziani, F., Piccininni, C., Barulli, M. R., Grasso, A., Battista, P., Tortelli, R., Capozzo, R., Griseta, C., Doricchi, F., Quaranta, N., Resta, E., Daniele, Antonio, Seripa, D., Solfrizzi, V., Bellomo, Alberto, Logroscino, Giandomenico, Panza, F., Daniele A. (ORCID:0000-0003-1641-5852), Bellomo A., and Logroscino G. (ORCID:0000-0003-1301-5343)
Abstract: The prevalence of late-life depression (LLD) depends on the study sample, measurements, and diagnostic approaches. We estimated the 30 item-Geriatric Depression Scale (GDS-30) accuracy against the gold standard LLD diagnosis made with the Semi-structured Clinical Diagnostic Interview for DSM-IV-TR Axis I Disorders, focusing on the prevalence of a late-life major depressive disorder (MDD), in a population-based sample of 843 subjects aged>65 years, subdivided into three groups: normal cognition, subjective memory complaints, and mild cognitive impairment. At the optimal cut-off score (≥4), the GDS-30 showed 65.1% sensitivity and 68.4% specificity for LLD (63% and 66% for late-life MDD, respectively). Using the standard cut-off score (≥10), the GDS-30 specificity reached 91.2%, while sensitivity dropped to 37.7%, indicating a lower screening accuracy [area under the curve(AUC):0.728, 95% confidence interval(CI):0.67–0–78]. The GDS-30 performance was associated with educational level, but not with age, gender, cognition, apathy, and somatic/psychiatric multimorbidity. For subjective memory complaints subjects, at the optimal cut-off score (≥7), the GDS-30 showed better discrimination performances (AUC=0.792,95%CI:0.60–0.98), but again the educational level affected the diagnostic performance. In subjective memory complaints subjects, symptom-based scales like the GDS-30 may feature a better performance for diagnosing depression in older age, but the GDS-30 seems to require adjustment to the patient's educational level.
Published: 2022

3. Time to generalization and prediction of survival in patients with amyotrophic lateral sclerosis: a retrospective observational study

Author: Tortelli, R., Copetti, M., Panza, F., Fontana, A., Cortese, R., Capozzo, R., Introna, A., DʼErrico, E., Zoccolella, S., Arcuti, S., Seripa, D., Simone, I. L., and Logroscino, G.
Published: 2016
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4. Effect modification of the association between total cigarette smoking and ALS risk by intensity, duration and time-since-quitting: Euro-MOTOR

Author: Peters S., Vlaanderen J., Portengen L., Vermeulen R., Visser A. E., Veldink J. H., Van Den Berg L. H., D'Ovidio F., Chio A., Beghi E., Pupillo E., Logroscino G., Hardiman O., Van Der Kooi A. J., Raaphorst J., Calvo A., Moglia C., Casale F., Fuda G., Canosa A., Manera U., Bombaci A., Grassano M., Vasta R., Salamone P., Marrali G., Iazzolino B., Mazzini L., Rooney J., Heverin M., Vajda A., Comi G., Riva N., Lunetta C., Gerardi F., Filosto M., Cotelli M. S., Rinaldi F., Chiveri L., Guaita M. C., Perrone P., Mauro C., Diamanti L., Ferrarese C., Tremolizzo L., Delodovici M. L., Bono G., Tortelli R., Zecca C., Peters, S, Vlaanderen, J, Portengen, L, Vermeulen, R, Visser, A, Veldink, J, Van Den Berg, L, D'Ovidio, F, Chio, A, Beghi, E, Pupillo, E, Logroscino, G, Hardiman, O, Van Der Kooi, A, Raaphorst, J, Calvo, A, Moglia, C, Casale, F, Fuda, G, Canosa, A, Manera, U, Bombaci, A, Grassano, M, Vasta, R, Salamone, P, Marrali, G, Iazzolino, B, Mazzini, L, Rooney, J, Heverin, M, Vajda, A, Comi, G, Riva, N, Lunetta, C, Gerardi, F, Filosto, M, Cotelli, M, Rinaldi, F, Chiveri, L, Guaita, M, Perrone, P, Mauro, C, Diamanti, L, Ferrarese, C, Tremolizzo, L, Delodovici, M, Bono, G, Tortelli, R, Zecca, C, Neurology, ANS - Neuroinfection & -inflammation, and ANS - Neurodegeneration
Subjects: Adult, Male, case-control study, Population, Logistic regression, amyotrophic lateral sclerosis, pooled analysis, tobacco, Risk Assessment, Cigarette Smoking, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Risk Factors, Medicine, Humans, amyotrophic lateral sclerosi, pooled analysi, 030212 general & internal medicine, Amyotrophic lateral sclerosis, education, Association (psychology), Aged, Netherlands, education.field_of_study, business.industry, Amyotrophic Lateral Sclerosis, Smoking, Case-control study, Middle Aged, medicine.disease, 3. Good health, Intensity (physics), Psychiatry and Mental health, Quartile, Italy, Socioeconomic Factors, Duration (music), Case-Control Studies, Surgery, Female, Smoking Cessation, Neurology (clinical), business, Ireland, 030217 neurology & neurosurgery, Demography
Abstract: BackgroundWe investigated the association between cigarette smoking and risk of amyotrophic lateral sclerosis (ALS) in a pooled analysis of population-based case–control studies and explored the independent effects of intensity, duration and time-since-quitting.MethodsALS cases and controls, matched by age, sex and region, were recruited in the Netherlands, Italy and Ireland (*Euro-MOTOR project). Demographics and detailed lifetime smoking histories were collected through questionnaires. Effects of smoking status, intensity (cigarettes/day), duration (years), pack-years and time-since-quitting (years) on ALS risk were estimated using logistic regression models, adjusting for age, sex, alcohol, education and centre. We further investigated effect modification of the linear effects of pack-years by intensity, duration and time-since-quitting using excess OR (eOR) models.ResultsAnalyses were performed on 1410 cases and 2616 controls. Pack-years were positively associated with ALS risk; OR=1.26 (95% CI: 1.03 to 1.54) for the highest quartile compared with never smokers. This association appeared to be predominantly driven by smoking duration (ptrend=0.001) rather than intensity (ptrend=0.86), although the trend for duration disappeared after adjustment for time-since-quitting. Time-since-quitting was inversely related to ALS (ptrendConclusionsOur findings provide further support for the association between smoking and ALS. Pack-years alone may be insufficient to capture effects of different smoking patterns. Time-since-quitting appeared to be an important factor, suggesting that smoking may be an early disease trigger.
Published: 2020

5. Cerebrospinal fluid neurofilament light chain levels: marker of progression to generalized amyotrophic lateral sclerosis

Author: Tortelli, R., Copetti, M., Ruggieri, M., Cortese, R., Capozzo, R., Leo, A., DʼErrico, E., Mastrapasqua, M., Zoccolella, S., Pellegrini, F., Simone, I. L., and Logroscino, G.
Published: 2015
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6. Meta-analysis of pharmacogenetic interactions in amyotrophic lateral sclerosis clinical trials

Author: van Eijk, Ruben P. A, Jones, Ashley R., Sproviero, William, Shatunov, Aleksey, Shaw, Pamela J., Leigh, P. Nigel, Young, Carolyn A., Shaw, Christopher E., Mora, Gabriele, Mandrioli, Jessica, Borghero, Giuseppe, Volanti, Paolo, Diekstra, Frank P., van Rheenen, Wouter, Verstraete, Esther, Eijkemans, Marinus J. C, Veldink, Jan H., Chio, Adriano, Al-Chalabi, Ammar, van den Berg, Leonard H., van Es, Michael A, For UKMND-LiCALS and LITALS Study Group: Allen C, Counsell C, Farrin A, Al-Chalabi A, Dickie B, Kelly J, Leigh PN, Murphy CL, Payan C, Reynolds G, Shaw P, Steen IN, Thornhill M, Waters J, Zajicek J, Shaw PJ, Young CA, Morrison KE, Dhariwal S, Hornabrook R, Savage L, Burn DJ, Khoo TK, Dougherty A, Wijesekera L, Ellis CM, Ali R, O'Hanlon K, Panicker J, Pate L, Ray P, Wyatt L, Copeland L, Ealing J, Hamdalla H, Leroi I, Murphy C, O'Keeffe F, Oughton E, Partington L, Paterson P, Rog D, Sathish A, Sexton D, Smith J, Vanek H, Dodds S, Williams TL, Clarke J, Eziefula C, Howard R, Orrell R, Sidle K, Sylvester R, Barrett W, Merritt C, Talbot K, Turner MR, Whatley C, Williams C, Williams J, Cosby C, Hanemann CO, Imam I, Phillips C, Timings L, Crawford SE, Hewamadduma C, Hibberd R, Hollinger H, McDermott C, Mills G, Rafiq M, Taylor A, Waines E, Walsh T, Addison-Jones R, Birt J, Hare M, Majid T, Tortelli R, D'Errico E, Bartolomei I, Barbarossa E, Depau B, Costantino E, D'Amico E, Uncini A, Manzoli C, Quatrale R, Sette E, Montanari E, Merello M, Zarcone D, Mascolo M, Vignolo M, Messina S, Morelli C, Marinou K, Papetti L, Lunetta C, Gorni K, De Cicco D, Pipia C, Sola P, Georgoulopoulou E, Sagnelli A, Tedeschi, Gioacchino, Oggioni G, Nasuelli N, D'Ascenzo C, Cima V, Aiello M, Rizzi R, Rinaldi E, Luigetti M, Conte A, Torzini A, Greco G, Mutani R, Fuda G, Tommasi MA, van Eijk, Ruben P. A, Jones, Ashley R., Sproviero, William, Shatunov, Aleksey, Shaw, Pamela J., Leigh, P. Nigel, Young, Carolyn A., Shaw, Christopher E., Mora, Gabriele, Mandrioli, Jessica, Borghero, Giuseppe, Volanti, Paolo, Diekstra, Frank P., van Rheenen, Wouter, Verstraete, Esther, Eijkemans, Marinus J. C, Veldink, Jan H., Chio, Adriano, Al-Chalabi, Ammar, van den Berg, Leonard H., van Es, Michael A, For UKMND-LiCALS and LITALS Study Group: Allen, C, Counsell, C, Farrin, A, Al-Chalabi, A, Dickie, B, Kelly, J, Leigh, Pn, Murphy, Cl, Payan, C, Reynolds, G, Shaw, P, Steen, In, Thornhill, M, Waters, J, Zajicek, J, Shaw, Pj, Young, Ca, Morrison, Ke, Dhariwal, S, Hornabrook, R, Savage, L, Burn, Dj, Khoo, Tk, Dougherty, A, Wijesekera, L, Ellis, Cm, Ali, R, O'Hanlon, K, Panicker, J, Pate, L, Ray, P, Wyatt, L, Copeland, L, Ealing, J, Hamdalla, H, Leroi, I, Murphy, C, O'Keeffe, F, Oughton, E, Partington, L, Paterson, P, Rog, D, Sathish, A, Sexton, D, Smith, J, Vanek, H, Dodds, S, Williams, Tl, Clarke, J, Eziefula, C, Howard, R, Orrell, R, Sidle, K, Sylvester, R, Barrett, W, Merritt, C, Talbot, K, Turner, Mr, Whatley, C, Williams, C, Williams, J, Cosby, C, Hanemann, Co, Imam, I, Phillips, C, Timings, L, Crawford, Se, Hewamadduma, C, Hibberd, R, Hollinger, H, Mcdermott, C, Mills, G, Rafiq, M, Taylor, A, Waines, E, Walsh, T, Addison-Jones, R, Birt, J, Hare, M, Majid, T, Tortelli, R, D'Errico, E, Bartolomei, I, Barbarossa, E, Depau, B, Costantino, E, D'Amico, E, Uncini, A, Manzoli, C, Quatrale, R, Sette, E, Montanari, E, Merello, M, Zarcone, D, Mascolo, M, Vignolo, M, Messina, S, Morelli, C, Marinou, K, Papetti, L, Lunetta, C, Gorni, K, De Cicco, D, Pipia, C, Sola, P, Georgoulopoulou, E, Sagnelli, A, Tedeschi, Gioacchino, Oggioni, G, Nasuelli, N, D'Ascenzo, C, Cima, V, Aiello, M, Rizzi, R, Rinaldi, E, Luigetti, M, Conte, A, Torzini, A, Greco, G, Mutani, R, Fuda, G, and Tommasi, Ma
Subjects: Oncology, R853.C55, medicine.medical_specialty, Genotype, Neuroprotective Agent, Clinical Neurology, Nerve Tissue Proteins, Review, Amyotrophic Lateral Sclerosis, C9orf72 Protein, Lithium Carbonate, Neuroprotective Agents, Proportional Hazards Models, Proteins, Pharmacogenetics, Randomized Controlled Trials as Topic, Neurology (clinical), Article, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Journal Article, 030212 general & internal medicine, Amyotrophic lateral sclerosis, business.industry, Protein, Pharmacogenetic, medicine.disease, Clinical trial, RC0346, Meta-analysis, Nerve Tissue Protein, Proportional Hazards Model, business, 030217 neurology & neurosurgery, Meta-Analysis, Amyotrophic Lateral Sclerosi
Abstract: OBJECTIVE\ud \ud To assess whether genetic subgroups in recent amyotrophic lateral sclerosis (ALS) trials responded to treatment with lithium carbonate, but that the treatment effect was lost in a large cohort of nonresponders.\ud \ud METHODS\ud \ud Individual participant data were obtained from 3 randomized trials investigating the efficacy of lithium carbonate. We matched clinical data with data regarding the UNC13A and C9orf72 genotype. Our primary outcome was survival at 12 months. On an exploratory basis, we assessed whether the effect of lithium depended on the genotype.\ud \ud RESULTS\ud \ud Clinical data were available for 518 of the 606 participants. Overall, treatment with lithium carbonate did not improve 12-month survival (hazard ratio [HR] 1.0, 95% confidence interval [CI] 0.7-1.4; p = 0.96). Both the UNC13A and C9orf72 genotype were independent predictors of survival (HR 2.4, 95% CI 1.3-4.3; p = 0.006 and HR 2.5, 95% CI 1.1-5.2; p = 0.032, respectively). The effect of lithium was different for UNC13A carriers (p = 0.027), but not for C9orf72 carriers (p = 0.22). The 12-month survival probability for UNC13A carriers treated with lithium carbonate improved from 40.1% (95% CI 23.2-69.1) to 69.7% (95% CI 50.4-96.3).\ud \ud CONCLUSIONS\ud \ud This study incorporated genetic data into past ALS trials to determine treatment effects in a genetic post hoc analysis. Our results suggest that we should reorient our strategies toward finding treatments for ALS, start focusing on genotype-targeted treatments, and standardize genotyping in order to optimize randomization and analysis for future clinical trials.
Published: 2017
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7. Multicentre, cross-cultural, population-based, case-control study of physical activity as risk factor for amyotrophic lateral sclerosis

Author: Visser, A, Rooney, J, D'Ovidio, F, Westeneng, H, Vermeulen, R, Beghi, E, Chio, A, Logroscino, G, Hardiman, O, Veldink, J, Van Den Berg, L, Tomasoni, A, Arnaboldi, M, Valsecchi, M, Moleri, M, Poloni, M, Alimonti, D, Tagliavini, F, Redaelli, V, Fede, B, Bizzozero, I, Prioni, S, Van der Kooi, A, Raaphorst, J, Calvo, A, Moglia, C, Casale, F, Canosa, A, Manera, U, Bertuzzo, D, Mazzini, L, Bersano, E, Heverin, M, Vadja, A, Pupillo, E, Comi, G, Lunetta, C, Gerardi, F, Filosto, M, Cotelli, M, Rinaldi, F, Chiveri, L, Guaita, M, Perrone, P, Mauro, C, Diamanti, L, Ferrarese, C, Tremolizzo, L, Delodovici, M, Bono, G, Zecca, C, Tortelli, R, Riva, N, Visser A. E., Rooney J. P. K., D'ovidio F., Westeneng H. -J., Vermeulen R. C. H., Beghi E., Chio A., Logroscino G., Hardiman O., Veldink J. H., Van Den Berg L. H., Tomasoni A., Arnaboldi M., Valsecchi M., Moleri M., Poloni M., Alimonti D., Tagliavini F., Redaelli V., Fede B. D., Bizzozero I., Prioni S., Van der Kooi A. J., Raaphorst J., Calvo A., Moglia C., Casale F., Canosa A., Manera U., Bertuzzo D., Mazzini L., Bersano E., Heverin M., Vadja A., Pupillo E., Comi G., Lunetta C., Gerardi F., Filosto M., Cotelli M. S., Rinaldi F., Chiveri L., Guaita M. C., Perrone P., Mauro C., Diamanti L., Ferrarese C., Tremolizzo L., Delodovici M. L., Bono G., Zecca C., Tortelli R., Riva N., Visser, A, Rooney, J, D'Ovidio, F, Westeneng, H, Vermeulen, R, Beghi, E, Chio, A, Logroscino, G, Hardiman, O, Veldink, J, Van Den Berg, L, Tomasoni, A, Arnaboldi, M, Valsecchi, M, Moleri, M, Poloni, M, Alimonti, D, Tagliavini, F, Redaelli, V, Fede, B, Bizzozero, I, Prioni, S, Van der Kooi, A, Raaphorst, J, Calvo, A, Moglia, C, Casale, F, Canosa, A, Manera, U, Bertuzzo, D, Mazzini, L, Bersano, E, Heverin, M, Vadja, A, Pupillo, E, Comi, G, Lunetta, C, Gerardi, F, Filosto, M, Cotelli, M, Rinaldi, F, Chiveri, L, Guaita, M, Perrone, P, Mauro, C, Diamanti, L, Ferrarese, C, Tremolizzo, L, Delodovici, M, Bono, G, Zecca, C, Tortelli, R, Riva, N, Visser A. E., Rooney J. P. K., D'ovidio F., Westeneng H. -J., Vermeulen R. C. H., Beghi E., Chio A., Logroscino G., Hardiman O., Veldink J. H., Van Den Berg L. H., Tomasoni A., Arnaboldi M., Valsecchi M., Moleri M., Poloni M., Alimonti D., Tagliavini F., Redaelli V., Fede B. D., Bizzozero I., Prioni S., Van der Kooi A. J., Raaphorst J., Calvo A., Moglia C., Casale F., Canosa A., Manera U., Bertuzzo D., Mazzini L., Bersano E., Heverin M., Vadja A., Pupillo E., Comi G., Lunetta C., Gerardi F., Filosto M., Cotelli M. S., Rinaldi F., Chiveri L., Guaita M. C., Perrone P., Mauro C., Diamanti L., Ferrarese C., Tremolizzo L., Delodovici M. L., Bono G., Zecca C., Tortelli R., and Riva N.
Abstract: Objective To investigate the association between physical activity (PA) and amyotrophic lateral sclerosis (ALS) in population-based case-control studies in three European countries using a validated and harmonised questionnaire. Methods Patients with incident ALS and controls were recruited from five population-based registers in The Netherlands, Ireland and Italy. Demographic and data regarding educational level, smoking, alcohol habits and lifetime PA levels in both leisure and work time were gathered by questionnaire, and quantified using metabolic equivalent of task scores. Logistic regression models adjusting for PA-related factors were used to determine the association between PA and ALS risk, and forest plots were used to visualise heterogeneity between regions. Results 1557 patients and 2922 controls were included. We found a linear association between ALS and PA in leisure time (OR 1.07, P=0.01) and occupational activities (OR 1.06, P<0.001), and all activities combined (OR 1.06, P<0.001), with some heterogeneity between regions: the most evident association was seen in the Irish and Italian cohorts. After adjustment for other occupational exposures or exclusion of patients with a C9orf72 mutation, the ORs remained similar. Conclusion We provide new class I evidence for a positive association between PA and risk of ALS in a large multicentre study using harmonised methodology to objectively quantify PA levels, with some suggestions for population differences
Published: 2018

8. Association between alcohol exposure and the risk of amyotrophic lateral sclerosis in the Euro-MOTOR study

Author: D'Ovidio, F, Rooney, Jp, Visser, Ae, Manera, U, Beghi, E, Logroscino, G, Vermeulen, Rch, Veldink, Jh, van den Berg LH, Hardiman, O, Chiò, A, Zecca, C, Tortelli, R, Pupillo, E, Comi, G, Riva, N, Lunetta, C, Filosto, M, Sofia Cotelli, M, Rinaldi, F, Guaita, Mc, Perrone, P, Diamanti, L, Ferrarese, C, Tremolizzo, L, Maurizio Clerici, A, Mauri, M, Bono, G, Heverin, M, Vajda, A, O'Sullivan, M, Breen, N, Quinlan, E, Kirby, E, Kinsella, A, Madden, C, van der Kooi AJ, Raaphorst, J, Ge, C, Casale, F, Mazzini, L, Calvo, A, Canosa, A, Moglia, C, Bertuzzo, D, Bersano, E, Gerardi, F, Chiveri, L, Ceroni, M, Delodovici, Ml, Chiara, Z, Rosanna, T, Elisabetta, P, Giancarlo, C, Nilo, R, Christian, L, Massimiliano, F, Maria, Sc, Fabrizio, R, Maria, Cg, Patrizia, P, Luca, D, Carlo, F, Lucio, T, Angelo, Mc, Marco, M, Giorgio, B, Mark, H, Alice, V, Meabhdh, O, Nadia, B, Emma, Q, Emma, K, Anna, K, Caoifa, M, Anneke, Jvk, Joost, R, Calvin, G, Federico, C, Letizia, M, Andrea, C, Antonio, C, Cristina, M, Davide, B, Enrica, B., D'Ovidio, F, Rooney, J, Visser, A, Manera, U, Beghi, E, Logroscino, G, Vermeulen, R, Veldink, J, Van Den Berg, L, Hardiman, O, and Chiò, A
Subjects: Male, Italy/epidemiology, medicine.medical_specialty, Alcohol Drinking, Population, Clinical Neurology, Cumulative Exposure, Wine, Netherlands/epidemiology, Ireland/epidemiology, Alcohol use disorder, Research Support, Alcohol Drinking/epidemiology, 03 medical and health sciences, 0302 clinical medicine, Risk Factors, Internal medicine, Odds Ratio, Journal Article, medicine, Humans, Amyotrophic lateral sclerosis, Non-U.S. Gov't, Wine/statistics & numerical data, education, Stroke, Netherlands, Aged, education.field_of_study, business.industry, Research Support, Non-U.S. Gov't, Amyotrophic Lateral Sclerosis, Case-control study, Odds ratio, Middle Aged, medicine.disease, 3. Good health, Psychiatry and Mental health, Logistic Models, Italy, Case-Control Studies, Cohort, Female, Surgery, Neurology (clinical), business, Ireland, Amyotrophic Lateral Sclerosis/epidemiology, 030217 neurology & neurosurgery
Abstract: ObjectivesSeveral studies focused on the association between alcohol consumption and amyotrophic lateral sclerosis (ALS), although with inconsistent findings. Antioxidants may play a role since lyophilised red wine was found to prolong SOD1 mice lifespan. The aim of this international population-based case–control study performed in Ireland, The Netherlands and Italy was to assess the role of alcohol, and red wine in particular, in developing ALS.MethodsEuro-MOTOR is a case–control study where patients with incident ALS and controls matched for gender, age and area of residency were recruited in a population-based design. Logistic regression models adjusted for sex, age, cohort, education, leisure time physical activity, smoking, heart problems, hypertension, stroke, cholesterol and diabetes were performed.Results1557 patients with ALS and 2922 controls were enrolled in the study. Exposure to alcohol drinking was not significantly associated with ALS risk. A stratified analysis of exposure to alcohol by cohort revealed significant ORs in The Netherlands and in Apulia, with opposite directions (respectively 0.68 and 2.38). With regard to red wine consumption, only in Apulia the double-fold increased risk (OR 2.53) remained significant. A decreased risk was found for current alcohol drinkers (OR 0.83), while a significantly increased risk was detected among former drinkers (OR 1.63). Analysis of cumulative exposure to alcohol revealed no significant associations with ALS risk.ConclusionWith few exceptions, no significant association was found between alcohol consumption and ALS. The study of the association between alcohol and ALS requires a thorough exploration, especially considering the role of different type of alcoholic beverages.
Published: 2018
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9. First mutation in the nuclear localization signal sequence of spastin protein identified in a patient with hereditary spastic paraplegia

Author: Magariello, A., Tortorella, C., Patitucci, A., Tortelli, R., Liguori, M., Mazzei, R., Conforti, F. L., Citrigno, L., Ungaro, C., Simone, I. L., and Muglia, M.
Published: 2013
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10. Elevated cerebrospinal fluid neurofilament light levels in patients with amyotrophic lateral sclerosis: a possible marker of disease severity and progression

Author: Tortelli, R., Ruggieri, M., Cortese, R., DʼErrico, E., Capozzo, R., Leo, A., Mastrapasqua, M., Zoccolella, S., Leante, R., Livrea, P., Logroscino, G., and Simone, I. L.
Published: 2012
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11. Diagnostic Value of Cerebrospinal Fluid Neurofilament Light Protein in Neurology: A Systematic Review and Meta-analysis

Author: Bridel, C. (Claire), Van Wieringen, W.N. (Wessel N.), Zetterberg, H. (Henrik), Tijms, B.M. (Betty M.), Teunissen, C.E. (Charlotte), Álvarez-Cermeño, J.C. (José C), Andreasson, U. (Ulf), Axelsson, M. (Markus), Bäckström, D.C. (David C.), Bartos, A. (Ales), Bjerke, M. (Maria), Blennow, K. (Kaj), Boxer, A.L. (Adam), Brundin, L. (Lou), Burman, J. (Joachim), Christensen, T. (Tove), Fialová, L. (Lenká), Forsgren, L. (Lars), Frederiksen, H., Gisslén, M. (Magnus), Gray, E. (Elizabeth), Gunnarsson, M. (Martin), Hall, S. (Sara), Hansson, O. (Oskar), Herbert, M.K. (Megan K.), Jakobsson, J. (Joel), Jessen-Krut, J. (Jan), Janelidze, S. (Shorena), Johannsson, G., Jonsson, M. (Michael), Kappos, L. (Ludwig), Khademi, M. (Mohsen), Khalil, M. (Michael), Kuhle, J. (Jens), Landén, M. (Mikael), Leinonen, V. (Ville), Logroscino, G. (Giancarlo), Lu, C.-H. (Ching-Hua), Lycke, J. (Jan), Magdalinou, N. (Nadia), Malaspina, A. (Andrea), Mattsson, N. (Niklas), Meeter, L.H.H. (Lieke), Mehta, S.R. (Sanjay R.), Modvig, S. (Signe), Olsson, T., Paterson, R.W. (Ross W.), Pérez-Santiago, J. (Josué), Piehl, F. (Fredrik), Pijnenburg, Y.A.L. (Yolande), Pyykkö, O.T. (Okko T.), Ragnarsson, O. (Oskar), Rojas, J.C. (Julio C.), Romme Christensen, J. (Jeppe), Sandberg, L. (Linda), Scherling, C.S. (Carole S.), Schott, J.M. (Jonathan M.), Sellebjerg, F. (Finn), Simone, I.L. (Isabella L.), Skillbäck, T. (Tobias), Stilund, M. (Morten), Sundström, P. (Peter), Svenningsson, A. (Anders), Tortelli, R. (Rosanna), Tortorella, C. (Carla), Trentini, A. (Alessandro), Troiano, M. (Maria), Turner, M.R. (Martin R.), Swieten, J.C. (John) van, Vågberg, M. (Mattias), Verbeek, M.M. (Marcel), Villar, L.M. (Luisa María), Visser, P. (Pim), Wallin, A. (Anders), Weiss, A. (Andreas), Wikkelsø, C. (Carsten), Wild, E.J. (Edward J.), Bridel, C. (Claire), Van Wieringen, W.N. (Wessel N.), Zetterberg, H. (Henrik), Tijms, B.M. (Betty M.), Teunissen, C.E. (Charlotte), Álvarez-Cermeño, J.C. (José C), Andreasson, U. (Ulf), Axelsson, M. (Markus), Bäckström, D.C. (David C.), Bartos, A. (Ales), Bjerke, M. (Maria), Blennow, K. (Kaj), Boxer, A.L. (Adam), Brundin, L. (Lou), Burman, J. (Joachim), Christensen, T. (Tove), Fialová, L. (Lenká), Forsgren, L. (Lars), Frederiksen, H., Gisslén, M. (Magnus), Gray, E. (Elizabeth), Gunnarsson, M. (Martin), Hall, S. (Sara), Hansson, O. (Oskar), Herbert, M.K. (Megan K.), Jakobsson, J. (Joel), Jessen-Krut, J. (Jan), Janelidze, S. (Shorena), Johannsson, G., Jonsson, M. (Michael), Kappos, L. (Ludwig), Khademi, M. (Mohsen), Khalil, M. (Michael), Kuhle, J. (Jens), Landén, M. (Mikael), Leinonen, V. (Ville), Logroscino, G. (Giancarlo), Lu, C.-H. (Ching-Hua), Lycke, J. (Jan), Magdalinou, N. (Nadia), Malaspina, A. (Andrea), Mattsson, N. (Niklas), Meeter, L.H.H. (Lieke), Mehta, S.R. (Sanjay R.), Modvig, S. (Signe), Olsson, T., Paterson, R.W. (Ross W.), Pérez-Santiago, J. (Josué), Piehl, F. (Fredrik), Pijnenburg, Y.A.L. (Yolande), Pyykkö, O.T. (Okko T.), Ragnarsson, O. (Oskar), Rojas, J.C. (Julio C.), Romme Christensen, J. (Jeppe), Sandberg, L. (Linda), Scherling, C.S. (Carole S.), Schott, J.M. (Jonathan M.), Sellebjerg, F. (Finn), Simone, I.L. (Isabella L.), Skillbäck, T. (Tobias), Stilund, M. (Morten), Sundström, P. (Peter), Svenningsson, A. (Anders), Tortelli, R. (Rosanna), Tortorella, C. (Carla), Trentini, A. (Alessandro), Troiano, M. (Maria), Turner, M.R. (Martin R.), Swieten, J.C. (John) van, Vågberg, M. (Mattias), Verbeek, M.M. (Marcel), Villar, L.M. (Luisa María), Visser, P. (Pim), Wallin, A. (Anders), Weiss, A. (Andreas), Wikkelsø, C. (Carsten), and Wild, E.J. (Edward J.)
Abstract: Importance: Neurofilament light protein (NfL) is elevated in cerebrospinal fluid (CSF) of a number of neurological conditions compared with healthy controls (HC) and is a candidate biomarker for neuroaxonal damage. The influence of age and sex is largely unknown, and levels across neurological disorders have not been compared systematically to date. Objectives: To assess the associations of age, sex, and diagnosis with NfL in CSF (cNfL) and to evaluate its potential in discriminating clinically similar conditions. Data Sources: PubMed was searched for studies published between January 1, 2006, and January 1, 2016, reporting cNfL levels (using the search terms neurofilament light and cerebrospinal fluid) in neurological or psychiatric conditions and/or in HC. Study Selection: Studies reporting NfL levels measured in lumbar CSF using a commercially available immunoassay, as well as age and sex. Data Extraction and Synthesis: Individual-level data were requested from study authors. Generalized linear mixed-effects models were used to estimate the fixed effects of age, sex, and diagnosis on log-transformed NfL levels, with cohort of origin modeled as a random intercept. Main Outcome and Measure: The cNfL levels adjusted for age and sex across diagnoses. Results: Data were collected for 10059 individuals (mean [SD] age, 59.7 [18.8] years; 54.1% female). Thirty-five diagnoses were identified, including inflammatory diseases of the central nervous system (n = 2795), dementias and predementia stages (n = 4284), parkinsonian disorders (n = 984), and HC (n = 1332). The cNfL was elevated compared with HC in a majority of neurological conditions studied. Highest levels were observed in cognitively impaired HIV-positive individuals (iHIV), amyotrophic lateral sclerosis, frontotemporal dementia (FTD), and Huntington disease. In 33.3% of diagnoses, including HC, multiple sclerosis, Alzheimer disease (AD), and Parkinson disease (PD), cNfL was higher in men than women. The cNfL incr
Published: 2019
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12. Cardiovascular diseases may play a negative role in the prognosis of amyotrophic lateral sclerosis

Author: Mandrioli, J., Ferri, L., Fasano, Alfonso, Zucchi, E., Fini, N., Moglia, C., Lunetta, C., Marinou, K., Ticozzi, N., Drago Ferrante, G., Scialo, C., Soraru, G., Trojsi, F., Conte, Amelia, Falzone, Y. M., Tortelli, R., Russo, M., Sansone, V. A., Mora, G., Silani, V., Volanti, P., Caponnetto, C., Querin, G., Monsurro, M. R., Sabatelli, Mario, Chio, A., Riva, N., Logroscino, Giandomenico, Messina, S., Calvo, A., Fasano A., Conte A., Sabatelli M. (ORCID:0000-0001-6635-4985), Logroscino G. (ORCID:0000-0003-1301-5343), Mandrioli, J., Ferri, L., Fasano, Alfonso, Zucchi, E., Fini, N., Moglia, C., Lunetta, C., Marinou, K., Ticozzi, N., Drago Ferrante, G., Scialo, C., Soraru, G., Trojsi, F., Conte, Amelia, Falzone, Y. M., Tortelli, R., Russo, M., Sansone, V. A., Mora, G., Silani, V., Volanti, P., Caponnetto, C., Querin, G., Monsurro, M. R., Sabatelli, Mario, Chio, A., Riva, N., Logroscino, Giandomenico, Messina, S., Calvo, A., Fasano A., Conte A., Sabatelli M. (ORCID:0000-0001-6635-4985), and Logroscino G. (ORCID:0000-0003-1301-5343)
Abstract: Background and purpose: Only a few studies have considered the role of comorbidities in the prognosis of amyotrophic lateral sclerosis (ALS) and have provided conflicting results. Methods: Our multicentre, retrospective study included patients diagnosed from 1 January 2009 to 31 December 2013 in 13 referral centres for ALS located in 10 Italian regions. Neurologists at these centres collected a detailed phenotypic profile and follow-up data until death in an electronic database. Comorbidities at diagnosis were recorded by main categories and single medical diagnosis, with the aim of investigating their role in ALS prognosis. Results: A total of 2354 incident cases were collected, with a median survival time from onset to death/tracheostomy of 43 months. According to univariate analysis, together with well-known clinical prognostic factors (age at onset, diagnostic delay, site of onset, phenotype, Revised El Escorial Criteria and body mass index at diagnosis), the presence of dementia, hypertension, heart disease, chronic obstructive pulmonary disease, haematological and psychiatric diseases was associated with worse survival. In multivariate analysis, age at onset, diagnostic delay, phenotypes, body mass index at diagnosis, Revised El Escorial Criteria, dementia, hypertension, heart diseases (atrial fibrillation and heart failure) and haematological diseases (disorders of thrombosis and haemostasis) were independent prognostic factors of survival in ALS. Conclusions: Our large, multicentre study demonstrated that, together with the known clinical factors that are known to be prognostic for ALS survival, hypertension and heart diseases (i.e. atrial fibrillation and heart failure) as well as haematological diseases are independently associated with a shorter survival. Our findings suggest some mechanisms that are possibly involved in disease progression, giving new interesting clues that may be of value for clinical practice and ALS comorbidity management.
Published: 2018

13. A case-control study of hormonal exposures as etiologic factors for ALS in women

Author: Rooney, Jpk, Visser, Ae, D'Ovidio, F, Vermeulen, R, Beghi, E, Chio, A, Veldink, Jh, Logroscino, G, van den Berg LH, Zecca C, Hardiman O., Tortelli, R, Pupillo, E, Comi, G, Riva, N, Lunetta, C, Gerardi, F, Filosto, M, Cotelli, Ms, Rinaldi, F, Chiveri, L, Guaita, Mc, Perrone, P, Mauro, C, Diamanti, L, Ferrarese, Pc, Tremolizzo, L, Clerici, Am, Mauri, M, Bono, G, Heverin, M, Vajda, A, O'Sullivan, M, Breen, N, Quinlan, E, Kirby, E, Kinsella, A, Madden, C, van der Kooi AJ, Raaphorst, J, Casale, F, Mazzini, L, Calvo, A, Canosa, A, Moglia, C, Manera, U, Bertuzzo, D, and Bersano, E
Published: 2017

14. Cardiovascular diseases may play a negative role in the prognosis of amyotrophic lateral sclerosis

Author: Mandrioli, J., primary, Ferri, L., additional, Fasano, A., additional, Zucchi, E., additional, Fini, N., additional, Moglia, C., additional, Lunetta, C., additional, Marinou, K., additional, Ticozzi, N., additional, Drago Ferrante, G., additional, Scialo, C., additional, Sorarù, G., additional, Trojsi, F., additional, Conte, A., additional, Falzone, Y. M., additional, Tortelli, R., additional, Russo, M., additional, Sansone, V. A., additional, Mora, G., additional, Silani, V., additional, Volanti, P., additional, Caponnetto, C., additional, Querin, G., additional, Monsurrò, M. R., additional, Sabatelli, M., additional, Chiò, A., additional, Riva, N., additional, Logroscino, G., additional, Messina, S., additional, and Calvo, A., additional
Published: 2018
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15. Pseudobulbar affect as a negative prognostic indicator in amyotrophic lateral sclerosis

Author: Tortelli, R., primary, Arcuti, S., additional, Copetti, M., additional, Barone, R., additional, Zecca, C., additional, Capozzo, R., additional, Barulli, M. R., additional, Simone, I. L., additional, and Logroscino, G., additional
Published: 2018
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16. Factors predicting survival in ALS: a multicenter Italian study

Author: Calvo, A., Moglia, C., Lunetta, C., Marinou, K., Ticozzi, N., Ferrante, G. D., Scialo, C., Soraru, G., Trojsi, F., Conte, Amelia, Falzone, Y. M., Tortelli, R., Russo, M., Chio, A., Sansone, V. A., Mora, G., Silani, V., Volanti, P., Caponnetto, C., Querin, G., Monsurro, M. R., Sabatelli, Mario, Riva, N., Logroscino, Giandomenico, Messina, S., Fini, N., Mandrioli, J., Conte A., Sabatelli M. (ORCID:0000-0001-6635-4985), Logroscino G. (ORCID:0000-0003-1301-5343), Calvo, A., Moglia, C., Lunetta, C., Marinou, K., Ticozzi, N., Ferrante, G. D., Scialo, C., Soraru, G., Trojsi, F., Conte, Amelia, Falzone, Y. M., Tortelli, R., Russo, M., Chio, A., Sansone, V. A., Mora, G., Silani, V., Volanti, P., Caponnetto, C., Querin, G., Monsurro, M. R., Sabatelli, Mario, Riva, N., Logroscino, Giandomenico, Messina, S., Fini, N., Mandrioli, J., Conte A., Sabatelli M. (ORCID:0000-0001-6635-4985), and Logroscino G. (ORCID:0000-0003-1301-5343)
Abstract: The aim of this multicenter, retrospective study is to investigate the role of clinical characteristics and therapeutic intervention on ALS prognosis. The study included patients diagnosed from January 1, 2009 to December 31, 2013 in 13 Italian referral centers for ALS located in 10 Italian regions. Caring neurologists collected a detailed phenotypic profile and follow-up data until death into an electronic database. One center collected also data from a population-based registry for ALS. 2648 incident cases were collected. The median survival time from onset to death/tracheostomy was 44 months (SE 1.18, CI 42–46). According to univariate analysis, factors related to survival from onset to death/tracheostomy were: age at onset, diagnostic delay, site of onset, phenotype, degree of certainty at diagnosis according to revised El Escorial criteria (R-EEC), presence/absence of dementia, BMI at diagnosis, patients’ provenance. In the multivariate analysis, age at onset, diagnostic delay, phenotypes but not site of onset, presence/absence of dementia, BMI, riluzole use, R-EEC criteria were independent prognostic factors of survival in ALS. We compared patients from an ALS Registry with patients from tertiary centers; the latter ones were younger, less frequently bulbar, but more frequently familial and definite at diagnosis. Our large, multicenter study demonstrated the role of some clinical and demographic factors on ALS survival, and showed some interesting differences between referral centers’ patients and the general ALS population. These results can be helpful for clinical practice, in clinical trial design and to validate new tools to predict disease progression.
Published: 2017

17. The pitfall of GWA in Alzheimer disease: an Italian case-control study

Author: Seripa, D, Panza, F, Daniele, A, Tortelli, R, Paroni, G, D'Onofrio, G, Bizzarro, A, Gravina, C, Urbano, M, Boccardi, V, Mecocci, P, Masullo, C, Logroscino, G, Greco, A, and Seripa, D.
Published: 2016

18. Educational level influenced the gold standard diagnosis of late-life depression in the GreatAGE study

Author: Lozupone, M., primary, Veneziani, F., additional, Lofano, L., additional, Galizia, I., additional, Stella, E., additional, Copetti, M., additional, Arcuti, S., additional, Leo, A., additional, Sardone, R., additional, Grasso, A., additional, Tursi, M., additional, Barulli, M.R., additional, Tortelli, R., additional, Capozzo, R., additional, Panza, F., additional, Seripa, D., additional, Bonfiglio, C., additional, Osella, A.R., additional, and Logroscino, G., additional
Published: 2017
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19. Swallowing Disturbances and Psychiatric Profile in Older Adults: The GreatAGE Study

Author: Lozupone, M., primary, Leo, A., additional, Sardone, R., additional, Veneziani, F., additional, Bonfiglio, C., additional, Galizia, I., additional, Lofano, L., additional, Grasso, A., additional, Tursi, M., additional, Barulli, M.R., additional, Capozzo, R., additional, Tortelli, R., additional, Panza, F., additional, Seripa, D., additional, Osella, A.R., additional, and Logroscino, G., additional
Published: 2017
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20. COGNITIVE-HD study: protocol of an observational study of neurocognitive functioning and association with clinical outcomes in adults with end-stage kidney disease treated with haemodialysis

Author: Palmer, Sc, Ruospo, M, Barulli, Mr, Iurillo, A, Saglimbene, V, Natale, P, Gargano, L, Murgo, Am, Loy, C, van Zwieten, A, Wong, G, Tortelli, R, Craig, Jc, Johnson, Dw, Tonelli, M, Hegbrant, J, Wollheim, C, Logroscino, G, Strippoli, Gf, Cagnazzo, A, Antinoro, R, Sambati, M, Donatelli, C, Dambrosio, N, Saturno, C, Marangelli, A, Pedone, F, Matera, G, Benevento, M, Papagni, S, Alicino, F, Latassa, G, Molino, A, Grippaldi, F, Bertino, D, Montalto, G, Messina, S, Campo, S, Nasisi, P, Failla, A, Bua, A, Pagano, S, Marino, G, Sanfilippo, N, Rallo, D, Maniscalco, A, Capostagno, C, Randazzo, G, Fici, M, Lupo, Antonio, Fichera, R, D'Angelo, A, Region, L, Mammarella, Rd, Meconizzi, M, Boccia, E, Mantuano, M, Flammini, A, and Moscardelli, L.
Subjects: Adult, Pediatrics, medicine.medical_specialty, Patient Dropouts, Adolescent, Epidemiology, medicine.medical_treatment, Population, Neuropsychological Tests, Executive Function, Cognition, Clinical Protocols, Memory, Renal Dialysis, Informed consent, Cause of Death, Activities of Daily Living, Protocol, medicine, Humans, Learning, Longitudinal Studies, Prospective Studies, Prospective cohort study, education, Dialysis, cognitive impairment, education.field_of_study, hemodialysis, business.industry, General Medicine, medicine.disease, Treatment Outcome, Italy, Motor Skills, Research Design, cognitive impairment, chronic kidney disease, hemodialysis, Kidney Failure, Chronic, Cognition Disorders, business, Neurocognitive, chronic kidney disease, Kidney disease, Cohort study
Abstract: Introduction The prevalence of cognitive impairment may be increased in adults with end-stage kidney disease compared with the general population. However, the specific patterns of cognitive impairment and association of cognitive dysfunction with activities of daily living and clinical outcomes (including withdrawal from treatment) among haemodialysis patients remain incompletely understood. The COGNITIVE impairment in adults with end-stage kidney disease treated with HemoDialysis (COGNITIVE-HD) study aims to characterise the age-adjusted and education-adjusted patterns of cognitive impairment (using comprehensive testing for executive function, perceptual-motor function, language, learning and memory, and complex attention) in patients on haemodialysis and association with clinical outcomes. Methods and analysis A prospective, longitudinal, cohort study of 750 adults with end-stage kidney disease treated with long-term haemodialysis has been recruited within haemodialysis centres in Italy (July 2013 to April 2014). Testing for neurocognitive function was carried out by a trained psychologist at baseline to assess cognitive functioning. The primary study factor is cognitive impairment and secondary study factors will be specific domains of cognitive function. The primary outcome will be total mortality. Secondary outcomes will be cause-specific mortality, major cardiovascular events, fatal and non-fatal myocardial infarction and stroke, institutionalisation, and withdrawal from treatment at 12 months. Ethics and dissemination This protocol was approved before study conduct by the following responsible ethics committees: Catania (approval reference 186/BE; 26/09/2013), Agrigento (protocol numbers 61–62; 28/6/2013), USL Roma C (CE 39217; 24/6/2013), USL Roma F (protocol number 0041708; 23/7/2013), USL Latina (protocol number 20090/A001/2011; 12/7/2013), Trapani (protocol number 3413; 16/7/2013) and Brindisi (protocol number 40259; 6/6/2013). All participants have provided written and informed consent and can withdraw from the study at any time. The findings of the study will be disseminated through peer-reviewed journals and national and international conference presentations and to the participants through communication within the dialysis network in which this study is conducted.
Published: 2015

21. A novel KIF5A mutation in an Italian family marked by spastic paraparesis and congenital deafness

Author: Muglia, M., Citrigno, L., D'Errico, E., Magariello, A., Distaso, E., Gasparro, A.A., Scarafino, A., Patitucci, A., Conforti, F.L., Mazzei, R., Cortese, R., Tortelli, R., and L. Simone, I.
Published: 2014
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22. Time to generalisation as a predictor of prognosis in amyotrophic lateral sclerosis

Author: Tortelli, R, Copetti, M, Panza, F, Cortese, R, Capozzo, R, D'Errico, E, Fontana, A, Simone, Il, and Logroscino, G.
Subjects: Adult, Male, ALS, Amyotrophic Lateral Sclerosis, Female, Humans, Middle Aged, Prognosis, Survival, Disease Progression
Published: 2014

23. Hearing loss and cognitive decline in older adults: Questions and answers

Author: Bernabei, R, Bonuccelli, U, Maggi, S, Marengoni, Alessandra, Martini, A, Memo, Maurizio, Pecorelli, Sergio, Peracino, A, Quaranta, N, Stella, R, Lin, F, Berrettini, S, Bertolotti, A, Canale, A, Castiglione, A, Cristofari, E, Cuda, D, De Caria, A, Folco, E, Gabelli, C, Genovese, E, Ghidoni, E, Leone, Ca, Mauri, Marta Rosa Maria, Padovani, Alessandro, Paludetti, G, Pirodda, A, Postiglione, A, REDAELLI DE ZINIS, Luca Oscar, Tortelli, R., Roberto Bernabei, Ubaldo Bonuccelli, Stefania Maggi, Alessandra Marengoni, Alessandro Martini, Maurizio Memo, Sergio Pecorelli, Andrea P. Peracino, Nicola Quaranta, Roberto Stella, Frank R. Lin, For the participants in the Workshop on Hearing Loss and Cognitive Decline in Older Adults [.., Antonio Pirodda, and ]
Subjects: Questions and answers, Gerontology, Age-related hearing loss, Cognitive decline, Dementia, Interdisciplinary collaboration, Sensory therapy, Animals, Cognition, Cognition Disorders, Hearing Loss, Humans, Aging, Geriatrics and Gerontology, Medicine (all), Hearing loss, media_common.quotation_subject, MEDLINE, Presentation, Cognition Disorder, otorhinolaryngologic diseases, Medicine, Association (psychology), Hearing Lo, cognitive impairment, media_common, business.industry, Animal, Settore MED/09 - MEDICINA INTERNA, medicine.disease, Age-related hearing lo, Settore MED/32 - AUDIOLOGIA, Settore MED/31 - OTORINOLARINGOIATRIA, medicine.symptom, business, Human
Abstract: The association between hearing impairment, the diagnosis of dementia, and the role of sensory therapy has been proposed for some time, but further research is needed. Current understanding of this association requires the commitment of those experts who can integrate experience and research from several fields to be able to understand the link from hearing to dementia. A workshop whose panelists included experts from many areas, ranging from ear, nose and throat (ENT) to dementia's specialists, was promoted and organized by the Giovanni Lorenzini Medical Science Foundation (Milan, Italy; Houston, TX, USA) to increase the awareness of the relationship between hearing loss and dementia, and included questions and comments following a presentation from the clinical researcher, Frank Lin, who has been evaluating the relationship between hearing loss and cognitive decline since 2009.
Published: 2014

24. Validity of the Geriatric Depression Scale-30 against the gold standard diagnosis of depression in older age: The GreatAGE Study

Author: Lozupone, M., primary, Veneziani, F., additional, Galizia, I., additional, Lofano, L., additional, Montalbò, D., additional, Arcuti, S., additional, Tortelli, R., additional, Barulli, M.R., additional, Capozzo, R., additional, Bonfiglio, C., additional, Panza, F., additional, Seripa, D., additional, Todarello, O., additional, and Logroscino, G., additional
Published: 2016
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25. Randomized double-blind placebo-controlled trial of acetyl-L-carnitine for ALS

Author: Beghi, E, Pupillo, E, Bonito, V, Buzzi, P, Caponnetto, C, Chiò, A, Corbo, M, Giannini, F, Inghilleri, M, Bella, Vl, Logroscino, G, Lorusso, L, Lunetta, C, Mazzini, L, Messina, P, Mora, G, Perini, M, Quadrelli, Ml, Silani, V, Simone, Il, Tremolizzo, L, Samarelli, V, Tortelli, R, D'Errico, E, Merello, M, Tavernelli, F, Mancardi, GIOVANNI LUIGI, Mascolo, M, Bendotti, C, Buratti, M, Floriani, I, Giordano, L, Giussani, G, Maderna, L, Maestri, E, Marinou, K, Mennini, T, Messina, S, Morelli, C, Papetti, L, Rizzo, A, Ticozzi, N, Verde, F, Ferrarese, C, Marzorati, L, Testa, L, Valentino, F, Frasca, V, Giacomelli, E, Casali, S, Malentacchi, M, Calvo, A, Cammarosano, S, Moglia, C, Cavallo, E, Fuda, G., Beghi,E, Pupillo, E, Bonito, V, Buzzi, P, Caponnetto, C, Chiò, A, Corbo, M, Giannini, F, Inghilleri, M, La Bella, V, Logroscino,G, Lorusso,L, Lunetta,C, Mazzini, L, Messina, P, Mora, G, Perini, M, Quadrelli, ML, Silani, V, Simone, IL, Tremolizzo, L, Valentino, F, The Italian ALS, Study Group, Beghi, E, Bella, V, Logroscino, G, Lorusso, L, Lunetta, C, Quadrelli, M, Simone, I, The Italian ALS Study Group, I, and Ferrarese, C
Subjects: Male, amyotrophic lateral sclerosis, Vital Capacity, Placebo-controlled study, Pilot Projects, Gastroenterology, law.invention, Randomized controlled trial, law, Acetyl-L-carnitine, motor neuron disease, randomized trial, acetyl-l-carnitine, Amyotrophic lateral sclerosis, Acetylcarnitine, ALS, acetyl-L-carnitine, Nootropic Agents, Riluzole, Middle Aged, Treatment Outcome, Neurology, Combination, Disease Progression, Drug Therapy, Combination, Settore MED/26 - Neurologia, Female, medicine.drug, Adult, medicine.medical_specialty, Acetyl-L-carnitine, amyotrophic lateral sclerosis, motor neuron disease, randomized trial, Double blind, Double-Blind Method, Drug Therapy, Internal medicine, medicine, Humans, Aged, MED/26 - NEUROLOGIA, business.industry, Disease progression, medicine.disease, Surgery, Quality of Life, Amyotrophic Lateral Sclerosis, Excitatory Amino Acid Antagonists, Neurology (clinical), business
Abstract: Our objective was to assess the effects of acetyl-L-carnitine (ALC) with riluzole on disability and mortality of amyotrophic lateral sclerosis (ALS). Definite/probable ALS patients, 40-70 years of age, duration 6-24 months, self-sufficient (i.e. able to swallow, cut food/handle utensils, and walk), and with forced vital capacity (FVC) > 80% entered a pilot double-blind, placebo-controlled, parallel group trial and were followed for 48 weeks. ALC or placebo 3 g/day was added to riluzole 100 mg/day. Primary endpoint: number of patients no longer self-sufficient. Secondary endpoints: changes in ALSFRS-R, MRC, FVC and McGill Quality of Life (QoL) scores. Analysis was made in the intention-to-treat (ITT) and per-protocol (PP) population, completers and completers/compliers (i.e. taking > 75% of study drug). Forty-two patients received ALC and 40 placebo. In the ITT population, 34 (80.9%) patients receiving ALC and 39 (97.5%) receiving placebo became non-self-sufficient (p = 0.0296). In the PP analysis, percentages were 84.4 and 100.0% (p = 0.0538), respectively. Mean ALSFRS-R scores at 48 weeks were 33.6 (SD 10.4) and 27.6 (9.9) (p = 0.0388), respectively, and mean FVC scores 90.3 (32.6) and 58.6 (31.2) (p = 0.0158), respectively. Median survival was 45 months (ALC) and 22 months (placebo) (p = 0.0176). MRC, QoL and adverse events were similar. In conclusion, ALC may be effective, well-tolerated and safe in ALS. A pivotal phase III trial is needed.
Published: 2013

26. Amyotrophic lateral sclerosis: a new missense mutation in the SOD1 gene

Author: Tortelli R, Conforti FL, Cortese R, D'Errico E, Distaso E, Mazzei R, Ungaro C, Magariello A, Gambardella A, Logroscino G, and Simone IL.
Published: 2013

27. The p.Arg416Cys mutation in SPG3a gene associated with a pure form of spastic paraplegia

Author: Magariello A, Tortorella C, Citrigno L, Patitucci A, Tortelli R, Mazzei R, Conforti FL, Ungaro C, Sproviero W, Gambardella A, and Muglia M.
Published: 2012

28. Amiotrophic Lateral Sclerosis: a new missense mutation in SOD1 gene

Author: Conforti F, Sproviero W, Mazzei R, Tortelli R, Cortese R, Leo A, D'Errico E, Patitucci A, Magariello A, Muglia M, Capozzo R, Logroscino G, Gambardella A, and Simone I
Published: 2011

29. Prevalence of Anxiety Disorders and Comorbid Affective Disorders in the Elderly of Castellana Grotte (italy).

Author: Lozupone, M., primary, Veneziani, F., additional, Lofano, L., additional, Montalbò, D., additional, Galizia, I., additional, Barulli, M.R., additional, Tortelli, R., additional, Bonfiglio, C., additional, Todarello, O., additional, and Logroscino, G., additional
Published: 2015
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30. Problemi e prospettive della classificazione delle prove di efficacia nell’infermieristica

Author: Motta, Paolo Carlo and Tortelli, R.
Published: 2007

31. Cerebrospinal fluid neurofilament light chain levels: marker of progression to generalized amyotrophic lateral sclerosis

Author: Tortelli, R., primary, Copetti, M., additional, Ruggieri, M., additional, Cortese, R., additional, Capozzo, R., additional, Leo, A., additional, D'Errico, E., additional, Mastrapasqua, M., additional, Zoccolella, S., additional, Pellegrini, F., additional, Simone, I. L., additional, and Logroscino, G., additional
Published: 2014
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32. Cognitive decline in older age and metabolic profile in middle age: Is there an association?

Author: Tortelli, R., primary, Guerra, V.M.B., additional, Capozzo, R., additional, Leo, A., additional, Veneziani, F., additional, Barulli, M.R., additional, Tursi, M., additional, Grasso, A., additional, Chiloiro, R., additional, Solfrizzi, V., additional, Misciagna, G., additional, and Logroscino, G., additional
Published: 2013
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33. First mutation in the nuclear localization signal sequence of spastin protein identified in a patient with hereditary spastic paraplegia

Author: Magariello, A., primary, Tortorella, C., additional, Patitucci, A., additional, Tortelli, R., additional, Liguori, M., additional, Mazzei, R., additional, Conforti, F. L., additional, Citrigno, L., additional, Ungaro, C., additional, Simone, I. L., additional, and Muglia, M., additional
Published: 2012
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34. Verbal Learning Abilities in ALS Patients (P01.109)

Author: Barulli, M. R., primary, Tursi, M., additional, Tortelli, R., additional, Capozzo, R., additional, Cortese, R., additional, D'Errico, E., additional, Leo, A., additional, Simone, I., additional, and Logroscino, G., additional
Published: 2012
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35. Cortical Thinning in Frontal Lobes Is Relate with Faster Progression of Amyotrophic Lateral Sclerosis (P03.161)

Author: Simone, I., primary, Mezzapesa, D., additional, D'Errico, E., additional, Dicuonzo, F., additional, Zoccolella, S., additional, Tortelli, R., additional, Cortese, R., additional, Federico, F., additional, Logroscino, G., additional, and Livrea, P., additional
Published: 2012
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36. Elevated plasma homocysteine levels in patients with amyotrophic lateral sclerosis

Author: Zoccolella, S., primary, Simone, I. L., additional, Lamberti, P., additional, Samarelli, V., additional, Tortelli, R., additional, Serlenga, L., additional, and Logroscino, G., additional
Published: 2008
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37. Erythropoietin in amyotrophic lateral sclerosis: a multicentre, randomized, double blind, placebo controlled, phase III study

Author: Lauria, G, Dalla Bella, E, Antonini, G, Borghero, G, Capasso, M, Caponnetto, C, Chiò, A, Corbo, M, Eleopra, R, Fazio, R, Filosto, M, Giannini, F, Granieri, E, La Bella, V, Logroscino, G, Mandrioli, J, Mazzini, L, Monsurrò, Mr, Mora, G, Pietrini, V, Quatrale, R, Rizzi, R, Salvi, F, Siciliano, G, Sorarù, G, Volanti, P, Tramacere, I, Filippini, G, Cazzato, D, Cesnik, E, Groppo, E, Sette, E, Pani, C, Costantino, E, Orlandini, F, Boi, D, Querin, G, D'Ascenzo, C, Sagnelli, A, Piccirillo, G, Aiello, M, Chetta, A, Grassi, A, Lunetta, C, Maestri, E, Padovani, A, Cotelli, M, Todeschini, A, Morino, S, Di Pasquale, A, Latino, P, Casali, S, Battistini, S, Pirrelli, M, Cantello, R, Nasuelli, N, Servo, S, De Gennaro, R, Gastaldo, E, Georgoulopoulou, E, Fini, N, Taiello, Ac, Colletti, T, Calvo, A, Moglia, C, Fuda, G, Marinou, K, Riva, N, Cerri, F, Lopez, Id, De Cicco, D, Battaglia, G, Marcello, N, Rinaldi, M, Scialò, C, Mantero, V, Mascolo, M, Carlesi, C, Caldarazzo Ienco, E, Di Muzio, A, Verriello, L, D'Amico, D, Simone, Il, Tortelli, R, Cortese, R, Bartolomei, I, G., Lauria, E., Dalla Bella, G., Antonini, G., Borghero, M., Capasso, C., Caponnetto, A., Chiò, M., Corbo, R., Eleopra, R., Fazio, M., Filosto, F., Giannini, E., Granieri, V., La Bella, G., Logroscino, J., Mandrioli, L., Mazzini, Monsurro', Maria Rosaria, G., Mora, V., Pietrini, R, Quatrale, R., Rizzi, F., Salvi, G., Siciliano, G., Sorarù, P., Volanti, I., Tramacere, G., Filippini, on behalf of the EPOS Trial Study, Group, Lauria, G., Bella, E. D., Antonini, G., Borghero, G., Capasso, M., Caponnetto, C., Chio, A., Corbo, M., Eleopra, R., Fazio, R., Filosto, M., Giannini, F., Granieri, E., Bella, V. L., Logroscino, G., Mandrioli, J., Mazzini, L., Mora, G., Pietrini, V., Quatrale, R., Rizzi, R., Salvi, F., Siciliano, G., Soraru, G., Volanti, P., Tramacere, I., Filippini, G., Lauria, G, Dalla Bella, Eleonora, Antonini, G, Borghero, G, Capasso, M, Caponnetto, C, Chiò, A, Corbo, M, Eleopra, R, Fazio, R, Filosto, M, Giannini, F, Granieri, E, LA BELLA, V, Logroscino, G, Mandrioli, J, Mazzini, L, Monsurrò, Maria Rosaria, Mora, G, Pietrini, V, Quatrale, R, Rizzi, R, Salvi, F, Siciliano, G, Sorarù, G, Volanti, P, and Tramacere Irene, Filippini, G.
Subjects: Male, Gastroenterology, law.invention, Randomized controlled trial, law, Amyotrophic lateral sclerosis, MOTOR NEURON DISEASE, education.field_of_study, Recombinant Protein, Middle Aged, Recombinant Proteins, Treatment Outcome, Psychiatry and Mental Health, Neuromuscular, Settore MED/26 - Neurologia, Female, erythropoietyn, clinical trial, medicine.drug, Human, ALS, Adult, Aged, Amyotrophic Lateral Sclerosis, Double-Blind Method, Erythropoietin, Humans, medicine.medical_specialty, Population, Socio-culturale, Placebo, Double blind, Arts and Humanities (miscellaneous), Epoetin Alfa, Neurology (clinical), Surgery, Internal medicine, medicine, education, business.industry, Epoetin alfa, medicine.disease, Clinical trial, business, Amyotrophic Lateral Sclerosi
Abstract: Objective To assess the efficacy of recombinant human erythropoietin (rhEPO) in amyotrophic lateral sclerosis (ALS). Methods Patients with probable laboratory-supported, probable or definite ALS were enrolled by 25 Italian centres and randomly assigned (1:1) to receive intravenous rhEPO 40 000 IU or placebo fortnightly as add-on treatment to riluzole 100 mg daily for 12 months. The primary composite outcome was survival, tracheotomy or >23 h non-invasive ventilation (NIV). Secondary outcomes were ALSFRS-R, slow vital capacity (sVC) and quality of life (ALSAQ-40) decline. Tolerability was evaluated analysing adverse events (AEs) causing withdrawal. The randomisation sequence was computer-generated by blocks, stratified by centre, disease severity (ALSFRS-R cut-off score of 33) and onset (spinal or bulbar). The main outcome analysis was performed in all randomised patients and by intentionto-treat for the entire population and patients stratified by severity and onset. The study is registered, EudraCT 2009-016066-91. Results We randomly assigned 208 patients, of whom 5 (1 rhEPO and 4 placebo) withdrew consent and 3 ( placebo) became ineligible (retinal thrombosis, respiratory insufficiency, SOD1 mutation) before receiving treatment; 103 receiving rhEPO and 97 placebo were eligible for analysis. At 12 months, the annualised rate of death (rhEPO 0.11, 95% CI 0.06 to 0.20; placebo: 0.08, CI 0.04 to 0.17), tracheotomy or >23 h NIV (rhEPO 0.16, CI 0.10 to 0.27; placebo 0.18, CI 0.11 to 0.30) did not differ between groups, also after stratification by onset and ALSFRS-R at baseline. Withdrawal due to AE was 16.5% in rhEPO and 8.3% in placebo. No differences were found for secondary outcomes. Conclusions RhEPO 40 000 IU fortnightly did not change the course of ALS.

38. The association between age-related hearing loss, speech discrimination and late-life depressive disorders: results from the greatage study

Author: Lozupone, M., Rodolfo Sardone, La Montagna, M., D Urso, F., Barulli, M. R., Battista, P., Tortelli, R., Capozzo, R., Grasso, A., Coppola, F., Bellomo, A., Panza, F., Seripa, D., Giannelli, G., Quaranta, N., and Logroscino, G.

39. Clinical features and outcomes of the flail arm and flail leg and pure lower motor neuron MND variants: A multicentre Italian study

Author: Gianni Sorarù, Mario Sabatelli, Yuri Matteo Falzone, Raffaella Fazio, Francesca Trojsi, Federica Agosta, Gioacchino Tedeschi, Cristina Moglia, Giancarlo Logroscino, Valeria Sansone, Claudia Caponnetto, Kalliopi Marinou, Paolo Volanti, Massimo Filippi, Nilo Riva, Jessica Mandrioli, Giulia Ceccardi, Christian Lunetta, Andrea Calvo, Paride Schito, Angelo Quattrini, Laura Pozzi, Paola Carrera, Amelia Conte, Nicola Ticozzi, Massimo Russo, Rosanna Tortelli, Teuta Domi, Elisabetta Zucchi, Adriano Chiò, Carlo Scialò, Gabriele Mora, Vincenzo Silani, Giorgia Querin, Sonia Messina, Schito, P., Ceccardi, G., Calvo, A., Falzone, Y. M., Moglia, C., Lunetta, C., Marinou, K., Ticozzi, N., Scialo, C., Soraru, G., Trojsi, F., Conte, A., Tortelli, R., Russo, M., Zucchi, E., Pozzi, L., Domi, T., Carrera, P., Agosta, F., Quattrini, A., Fazio, R., Chio, A., Sansone, V. A., Mora, G., Silani, V., Volanti, P., Caponnetto, C., Querin, G., Tedeschi, G., Sabatelli, M., Logroscino, G., Messina, S., Mandrioli, J., Riva, N., and Filippi, M.
Subjects: Male, medicine.medical_specialty, Lower motor neuron, frontotemporal dementia, 03 medical and health sciences, Sex Factors, 0302 clinical medicine, Internal medicine, ALS, C9ORF, genetics, motor neuron disease, medicine, Humans, Age of Onset, Amyotrophic lateral sclerosis, Aged, Retrospective Studies, Motor Neurons, Leg, Genetic heterogeneity, business.industry, Upper motor neuron, Middle Aged, Motor neuron, medicine.disease, Psychiatry and Mental health, Phenotype, medicine.anatomical_structure, Italy, Arm, Female, Motor Neuron Disease, Surgery, Body region, Neurology (clinical), genetic, Age of onset, business, 030217 neurology & neurosurgery, Frontotemporal dementia
Abstract: Motor neuron disease (MND) is a heterogeneous group of neurodegenerative disorders defined by a progressive upper motor neuron (UMN) and lower motor neuron (LMN) loss in a varying combination, encompassing a heterogeneous clinical spectrum depending on a different body region involvement at onset, extent and rate of motor neuron (MN) loss and disease spread. Amyotrophic lateral sclerosis (ALS) is the most common and severe form of MND, leading to death in approximately 4 years from symptoms onset. To date, the mainstay neuroprotective therapy is riluzole, despite its limited efficacy, while the role of edaravon is still debated. Phenotypic heterogeneity is increasingly recognised within the MND spectrum, ranging from selective UMN or LMN involvement, to classic ALS, when widespread combination of UMN and LMN dysfunction occurs.1 The clinical spectrum of MND has been further detailed with the recognition of flail arm (FA), flail leg (FL) and pure lower motor neuron (PLMN) phenotypes, considered to be restricted MND phenotypes characterised by a predominant or selective LMN disease (LMND), when UMN dysfunction is absent or marginal.1 2 Furthermore, patients with MND can show an extra-motor involvement such as cognitive impairment with the development, in approximately 10%–15% of cases, of frontotemporal dementia. Few studies have previously focused on these LMN-restricted phenotypes, therefore, the aim of the present study is to retrospectively investigate the differentiating features of FA, FL and PLMN phenotypes in a large Italian MND cohort. 2648 patients with MND were recruited in 13 Italian ALS referral centres from January 2009 to December 2013 and data collected in a common database, which was cleaned before data analysis. To highlight the distinguishing features of patients with FA, FL and PLMN, the classic and bulbar phenotypes were used as controls. The final dataset consisted of 1944 patients. ALS diagnosis was established in accordance with …
Published: 2020

40. Comparative Analysis of C9orf72 and Sporadic Disease in a Large Multicenter ALS Population: The Effect of Male Sex on Survival of C9orf72 Positive Patients

Author: Francesca Trojsi, Mattia Siciliano, Cinzia Femiano, Gabriella Santangelo, Christian Lunetta, Andrea Calvo, Cristina Moglia, Kalliopi Marinou, Nicola Ticozzi, Christian Ferro, Carlo Scialò, Gianni Sorarù, Amelia Conte, Yuri M. Falzone, Rosanna Tortelli, Massimo Russo, Valeria Ada Sansone, Adriano Chiò, Gabriele Mora, Vincenzo Silani, Paolo Volanti, Claudia Caponnetto, Giorgia Querin, Mario Sabatelli, Nilo Riva, Giancarlo Logroscino, Sonia Messina, Antonio Fasano, Maria Rosaria Monsurrò, Gioacchino Tedeschi, Jessica Mandrioli, Trojsi, F., Siciliano, M., Femiano, C., Santangelo, G., Lunetta, C., Calvo, A., Moglia, C., Marinou, K., Ticozzi, N., Ferro, C., Scialo, C., Soraru, G., Conte, A., Falzone, Y. M., Tortelli, R., Russo, M., Sansone, V. A., Chio, A., Mora, G., Silani, V., Volanti, P., Caponnetto, C., Querin, G., Sabatelli, M., Riva, N., Logroscino, G., Messina, S., Fasano, A., Monsurro, M. R., Tedeschi, G., and Mandrioli, J.
Subjects: 0301 basic medicine, medicine.medical_specialty, amyotrophic lateral sclerosis, Survival, Population, Disease, Comorbidity, survival, lcsh:RC321-571, C9orf72 expansion, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, gender, Dementia, Family history, Amyotrophic lateral sclerosis, education, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, Amyotrophic lateral sclerosi, education.field_of_study, business.industry, General Neuroscience, Gender, medicine.disease, comorbidity, 030104 developmental biology, Cohort, business, Trinucleotide repeat expansion, 030217 neurology & neurosurgery
Abstract: We investigated whether the C9orf72 repeat expansion is associated with specific clinical features, comorbidities, and prognosis in patients with amyotrophic lateral sclerosis (ALS). A cohort of 1417 ALS patients, diagnosed between January 1, 2009 and December 31, 2013 by 13 Italian ALS Referral Centers, was screened for the C9orf72 repeat expansion, and the analyses were performed comparing patients carrying this expansion (ALS-C9Pos) to those negative for this and other explored ALS-related mutations (ALS without genetic mutations, ALSwoGM). Compared to the ALSwoGM group, ALS-C9Pos patients (n = 84) were younger at disease onset, at the first clinical observation and at diagnosis (p < 0.001). After correcting for these differences, we found that ALS-C9Pos patients had higher odds of bulbar onset, diagnosis of frontotemporal dementia (FTD) and family history of ALS, FTD, and Alzheimer's disease and had lower odds of spinal onset, non-invasive ventilation, hypertension and psychiatric diseases than ALSwoGM patients. Among these variables, those related to shorter survival time were: bulbar onset, presence of FTD, hypertension, psychiatric disease, and family history of ALS (p < 0.05). Cox proportional hazards regression multivariate analysis suggested that carrying the C9orf72 repeat expansion was an independent factor negatively impacting on survival time in men (HR 1.58, 95% CI 1.07-2.33, p = 0.021), but not in women (p > 0.05) as well as in the whole sample (p > 0.05). When compared to ALSwoGM, ALS-C9Pos showed an earlier disease onset, no significant diagnostic delay and a higher odds of bulbar onset, FTD and family history of ALS and dementia. Moreover, male sex drove the negative effect of expanded variant on survival, confirming the hypothesis that sex is likely to be a crucial factor in the biology of C9orf72-related disease.
Published: 2019
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41. Amyotrophic Lateral Sclerosis: An Aging-Related Disease

Author: Benoît Marin, Rosanna Tortelli, Pierre-Marie Preux, Giovanni Rizzo, Andrea Malaspina, Giancarlo Logroscino, Logroscino, G, Tortelli, R, Rizzo, G, Marin, B, Preux, Pm, and Malaspina, A
Subjects: medicine.medical_specialty, Pediatrics, education.field_of_study, Pathology, Neurology, business.industry, Neurodegeneration, Population, Disease, medicine.disease, 3. Good health, Amyotrophic lateral sclerosis . Motor neuron disease . Aging . Neurodegenerative disorder . Diagnosis . Staging . Prognosis . Biomarkers . Nutrition . Respiratory insufficiency . Epidemiology . Incidence . Sex ratio . Population-basedstudies .Genetics .Superoxidedismutase1 . Frontotemporal dementia . Phenotype . Ethnicity . Therapy . Randomized controlled trial, C9orf72, medicine, Body region, Geriatrics and Gerontology, Amyotrophic lateral sclerosis, 10. No inequality, education, business, Frontotemporal dementia
Abstract: Amyotrophic lateral sclerosis (ALS) is a rapidly progressive disorder characterized primarily by selective neurodegeneration of the motor neurons. The basis of diagnosis is the presence of signs of both upper and lower motor neuron involvement in more than one body region. ALS was considered until a few years ago a disease of young adults but recently population-based studies have consistently shown that ALS is an age-related disease with age incidence curve similar to other age-dependent neurodegenerative diseases like Parkinson’s disease and Alzheimer’s disease. The peak of incidence is in the eighth decade and declines thereafter, first in men and then in women. In the majority of cases, ALS is sporadic while 5–10 % of the disease is familiar. After the identification of C9ORF72, it is now recognized that the definition of familial ALS can be enlarged to include family members with frontotemporal dementia considering the tight link between the two nosological entities.
Published: 2015
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42. Reversible Cognitive Frailty, Dementia, and All-Cause Mortality The Italian Longitudinal Study on Aging

Author: Vincenzo Solfrizzi, Emanuele Scafato, Davide Seripa, Madia Lozupone, Bruno P. Imbimbo, Angela D'Amato, Rosanna Tortelli, Andrea Schilardi, Lucia Galluzzo, Claudia Gandin, Marzia Baldereschi, Antonio Di Carlo, Domenico Inzitari, Antonio Daniele, Carlo Sabbà, Giancarlo Logroscino, Francesco Panza, Gino Farchi, Antonio Capurso, Vito Lepore, Paolo Livrea, Luciano Motta, Giuseppe Carnazzo, Massimo Motta, Prospera Bentivegna, Salvatore Bonaiuto, Guido Cruciani, Demetrio Postacchini, Luigi Amaducci, Carlo Gandolfo, Massimo Conti, Nicola Canal, Massimo Franceschi, Guglielmo Scarlato, Livia Candelise, Elio Scapini, Franco Rengo, Pasquale Abete, Francesco Cacciatore, Giuliano Enzi, Leontino Battistin, Giuseppe Sergi, Gaetano Crepaldi, Stefania Maggi, Nadia Minicuci, Marianna Noale, Francesco Grigoletto, Egle Perissinotto, Pierugo Carbonin, Solfrizzi, V, Scafato, E, Seripa, D, Lozupone, M, Imbimbo, Bp, D'Amato, A, Tortelli, R, Schilardi, A, Galluzzo, L, Gandin, C, Baldereschi, M, Di Carlo, A, Inzitari, D, Daniele, A, Sabbà, C, Logroscino, G, Panza, F, Farchi, G, Capurso, A, Lepore, V, Livrea, P, Motta, L, Carnazzo, G, Motta, M, Bentivegna, P, Bonaiuto, S, Cruciani, G, Postacchini, D, Amaducci, L, Gandolfo, C, Conti, M, Canal, N, Franceschi, M, Scarlato, G, Candelise, L, Scapini, E, Rengo, F, Abete, Pasquale, Cacciatore, F, Enzi, G, Battistin, L, Sergi, G, Crepaldi, G, Maggi, S, Minicuci, N, Noale, M, Grigoletto, F, Perissinotto, E, and Carbonin, P.
Subjects: Gerontology, Male, Aging, Population, Alzheimer disease, Frailty, cognitive aging, dementia, mortality, vascular dementia, Aged, Aged, 80 and over, Dementia, Female, Humans, Italy, Longitudinal Studies, Mortality, Proportional Hazards Models, Cause of Death, Cognitive Dysfunction, 03 medical and health sciences, 0302 clinical medicine, medicine, 80 and over, 030212 general & internal medicine, Risk factor, Cognitive decline, education, Vascular dementia, General Nursing, education.field_of_study, Mini–Mental State Examination, medicine.diagnostic_test, business.industry, Health Policy, General Medicine, Nursing (all)2901 Nursing (miscellaneous), Medicine (all), medicine.disease, Multiinfarct dementia, Settore MED/26 - NEUROLOGIA, Geriatrics and Gerontology, Alzheimer's disease, business, 030217 neurology & neurosurgery
Abstract: Objectives Cognitive frailty, a condition describing the simultaneous presence of physical frailty and mild cognitive impairment, has been recently defined by an international consensus group. We estimated the predictive role of a “reversible” cognitive frailty model on incident dementia, its subtypes, and all-cause mortality in nondemented older individuals. We verified if vascular risk factors or depressive symptoms could modify this predictive role. Design Longitudinal population-based study with 3.5- and 7-year of median follow-up. Setting Eight Italian municipalities included in the Italian Longitudinal Study on Aging. Participants In 2150 older individuals from the Italian Longitudinal Study on Aging, we operationalized reversible cognitive frailty with the presence of physical frailty and pre-mild cognitive impairment subjective cognitive decline, diagnosed with a self-report measure based on item 14 of the Geriatric Depression Scale. Measurements Incidence of dementia, its subtypes, and all-cause mortality. Results Over a 3.5-year follow-up, participants with reversible cognitive frailty showed an increased risk of overall dementia [hazard ratio (HR) 2.30, 95% confidence interval (CI) 1.02–5.18], particularly vascular dementia (VaD), and all-cause mortality (HR 1.74, 95% CI 1.07–2.83). Over a 7-year follow-up, participants with reversible cognitive frailty showed an increased risk of overall dementia (HR 2.12, 95% CI 1.12–4.03), particularly VaD, and all-cause mortality (HR 1.39, 95% CI 1.03–2.00). Vascular risk factors and depressive symptoms did not have any effect modifier on the relationship between reversible cognitive frailty and incident dementia and all-cause mortality. Conclusions A model of reversible cognitive frailty was a short- and long-term predictor of all-cause mortality and overall dementia, particularly VaD. The absence of vascular risk factors and depressive symptoms did not modify the predictive role of reversible cognitive frailty on these outcomes.
Published: 2017

43. Genotype-phenotype correlation in the spectrum of frontotemporal dementia-parkinsonian syndromes and advanced diagnostic approaches.

Author: Zecca C, Tortelli R, Carrera P, Dell'Abate MT, Logroscino G, and Ferrari M
Subjects: Humans, Genome-Wide Association Study, Syndrome, Frontotemporal Dementia diagnosis, Frontotemporal Dementia genetics, Frontotemporal Dementia pathology, Parkinsonian Disorders
Abstract: The term frontotemporal dementia (FTD) refers to a group of progressive neurodegenerative disorders characterized mainly by atrophy of the frontal and anterior temporal lobes. Based on clinical presentation, three main clinical syndromes have traditionally been described: behavioral variant frontotemporal dementia (bvFTD), non-fluent/agrammatic primary progressive aphasia (nfPPA), and semantic variant PPA (svPPA). However, over the last 20 years, it has been recognized that cognitive phenotypes often overlap with motor phenotypes, either motor neuron diseases or parkinsonian signs and/or syndromes like progressive supranuclear palsy (PSP) and cortico-basal syndrome (CBS). Furthermore, FTD-related genes are characterized by genetic pleiotropy and can cause, even in the same family, pure motor phenotypes, findings that underlie the clinical continuum of the spectrum, which has pure cognitive and pure motor phenotypes as the extremes. The genotype-phenotype correlation of the spectrum, FTD-motor neuron disease, has been well defined and extensively investigated, while the continuum, FTD-parkinsonism, lacks a comprehensive review. In this narrative review, we describe the current knowledge about the genotype-phenotype correlation of the spectrum, FTD-parkinsonism, focusing on the phenotypes that are less frequent than bvFTD, namely nfPPA, svPPA, PSP, CBS, and cognitive-motor overlapping phenotypes (i.e. PPA + PSP). From a pathological point of view, they are characterized mainly by the presence of phosphorylated-tau inclusions, either 4 R or 3 R. The genetic correlate of the spectrum can be heterogeneous, although some variants seem to lead preferentially to specific clinical syndromes. Furthermore, we critically review the contribution of genome-wide association studies (GWAS) and next-generation sequencing (NGS) in disentangling the complex heritability of the FTD-parkinsonism spectrum and in defining the genotype-phenotype correlation of the entire clinical scenario, owing to the ability of these techniques to test multiple genes, and so to allow detailed investigations of the overlapping phenotypes. Finally, we conclude with the importance of a detailed genetic characterization and we offer to patients and families the chance to be included in future randomized clinical trials focused on autosomal dominant forms of FTLD.
Published: 2023
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44. Lumbar puncture safety and tolerability in premanifest and manifest Huntington's disease: a multi-analysis cross-sectional study.

Author: Hassan YR, Brogueira Rodrigues F, Zeun P, Byrne LM, Estevez-Fraga C, Tortelli R, Scahill RI, Wild EJ, and Tabrizi SJ
Subjects: Humans, Female, Cross-Sectional Studies, Spinal Puncture, Heterozygote, Biomarkers, Disease Progression, Huntington Disease genetics
Abstract: Lumbar puncture (LP) has become increasingly common for people with Huntington's disease (HD) both to administer intrathecal investigational medicinal products and to collect cerebrospinal fluid to develop biological markers to track disease stage and progression. We aimed to investigate the safety profile of LP in people with HD, building on a recently published work by increasing the sample size and more specifically, increasing the representation of the premanifest population and healthy controls. We conducted a multi-study cross-sectional analysis including eligible participants from the HDClarity (304 Huntington's disease gene expansion carriers and 91 controls) and HD-YAS studies (54 premanifest and 48 controls), enrolled between February 2016 and September 2019. We investigated the odds of any adverse events, headaches, and back pain independently. Intergroup comparisons and adjusted event odds were derived using hierarchical logistic regressions. A total of 669 LP procedures involving 497 participants were included in this analysis. There were 184 (27.5%) LP procedures associated with one or more adverse events. The two most common adverse events were: post LP headache and back pain. Younger age and female gender were found to be associated with a higher risk of developing adverse events. There was no difference in the rate of adverse events between the disease subgroups after adjusting for covariates such as age and gender. Our results suggest that the LP is safe and tolerable in premanifest and manifest HD subjects, providing useful reassurance about the procedure to the HD community., (© 2022. The Author(s).)
Published: 2022
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45. Longitudinal evaluation of proton magnetic resonance spectroscopy metabolites as biomarkers in Huntington's disease.

Author: Lowe AJ, Rodrigues FB, Arridge M, De Vita E, Johnson EB, Scahill RI, Byrne LM, Tortelli R, Heslegrave A, Zetterberg H, and Wild EJ
Abstract: Proton magnetic resonance spectroscopy is a non-invasive method of exploring cerebral metabolism. In Huntington's disease, altered proton magnetic resonance spectroscopy-determined concentrations of several metabolites have been described; however, findings are often discrepant and longitudinal studies are lacking. Proton magnetic resonance spectroscopy metabolites may represent a source of biomarkers, thus their relationship with established markers of disease progression require further exploration to assess prognostic value and elucidate pathways associated with neurodegeneration. In a prospective single-site controlled cohort study with standardized collection of CSF, blood, phenotypic and volumetric imaging data, we used 3 T proton magnetic resonance spectroscopy in conjunction with the linear combination of model spectra method to quantify seven metabolites (total n -acetylaspartate, total creatine, total choline, myo-inositol, GABA, glutamate and glutathione) in the putamen of 59 participants at baseline (15 healthy controls, 15 premanifest and 29 manifest Huntington's disease gene expansion carriers) and 48 participants at 2-year follow-up (12 healthy controls, 13 premanifest and 23 manifest Huntington's disease gene expansion carriers). Intergroup differences in concentration and associations with CSF and plasma biomarkers; including neurofilament light chain and mutant Huntingtin, volumetric imaging markers; namely whole brain, caudate, grey matter and white matter volume, measures of disease progression and cognitive decline, were assessed cross-sectionally using generalized linear models and partial correlation. We report no significant groupwise differences in metabolite concentration at baseline but found total creatine and total n -acetylaspartate to be significantly reduced in manifest compared with premanifest participants at follow-up. Additionally, total creatine and myo-inositol displayed significant associations with reduced caudate volume across both time points in gene expansion carriers. Although relationships were observed between proton magnetic resonance spectroscopy metabolites and biofluid measures, these were not consistent across time points. To further assess prognostic value, we examined whether baseline proton magnetic resonance spectroscopy values, or rate of change, predicted subsequent change in established measures of disease progression. Several associations were found but were inconsistent across known indicators of disease progression. Finally, longitudinal mixed-effects models revealed glutamine + glutamate to display a slow linear decrease over time in gene expansion carriers. Altogether, our findings show some evidence of reduced total n -acetylaspartate and total creatine as the disease progresses and cross-sectional associations between select metabolites, namely total creatine and myo-inositol, and markers of disease progression, potentially highlighting the proposed roles of neuroinflammation and metabolic dysfunction in disease pathogenesis. However, the absence of consistent group differences, inconsistency between baseline and follow-up, and lack of clear longitudinal change suggests that proton magnetic resonance spectroscopy metabolites have limited potential as Huntington's disease biomarkers., (© The Author(s) 2022. Published by Oxford University Press on behalf of the Guarantors of Brain.)
Published: 2022
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46. The challenge of amyotrophic lateral sclerosis descriptive epidemiology: to estimate low incidence rates across complex phenotypes in different geographic areas.

Author: Logroscino G, Urso D, and Tortelli R
Subjects: Humans, Incidence, Phenotype, Amyotrophic Lateral Sclerosis epidemiology, Amyotrophic Lateral Sclerosis genetics, Motor Neuron Disease epidemiology, Neurodegenerative Diseases
Abstract: Purpose of Review: Amyotrophic lateral sclerosis (ALS) is a rare progressive neurodegenerative disease of motor neurons with a fatal outcome. The rareness of the disease and the rapidly fatal course are the main challenges for the ALS epidemiological research. The understanding of ALS has clearly advanced in the recent years both in the genetics and in the leading pathways of disease determinants. Epidemiological research has played a primary role in these discoveries., Recent Findings: Epidemiological studies have shown a variation of incidence, mortality and prevalence of ALS between geographical areas and different populations, supporting the notion that genetic factors, linked to populations' ancestries, along with environmental and lifestyle factors, play a significant role in the occurrence of the disease. The burden of motor neuron diseases is increasing and currently more relevant in high-income countries but increasing at the highest rate in low and middle-income countries. The ALS phenotype is not restricted to motor functions. C9orf72 repeat expansion seems to present a recognizable phenotype characterized by earlier disease onset, the presence of cognitive and behavioural impairment., Summary: Population-based disease registries have played a major role in developing new knowledge on ALS, in characterizing genotype-phenotype correlations, in discovering new genetic modifiers and finally in planning research and health services, considering the high cost of motor neuron disease care. Epidemiological research based on multicentre international collaboration is essential to provide new data on ALS, especially in some regions of the world with poor data., (Copyright © 2022 The Author(s). Published by Wolters Kluwer Health, Inc.)
Published: 2022
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47. Sarcopenia screening in elderly with Alzheimer's disease: performances of the SARC-F-3 and MSRA-5 questionnaires.

Author: Bramato G, Barone R, Barulli MR, Zecca C, Tortelli R, Filardi M, and Logroscino G
Subjects: Aged, Cross-Sectional Studies, Female, Geriatric Assessment, Humans, Male, Risk Assessment, Surveys and Questionnaires, Alzheimer Disease complications, Alzheimer Disease diagnosis, Alzheimer Disease epidemiology, Sarcopenia diagnosis, Sarcopenia epidemiology
Abstract: Background: The 3-item SARC-F (SARC-F-3) and the 5-item Mini Sarcopenia Risk Assessment (MSRA-5) questionnaires have been recently proposed to screen elderly people regarding the risk of sarcopenia. However, no studies have investigated their performances in Alzheimer's disease (AD)., Methods: We conducted a single-center observational study, including 130 consecutive AD patients (mean age: 70.71 ± 8.50 y, 54.6% women) who attended a center for neurodegenerative diseases. Sarcopenia was diagnosed using the European Working Group on Sarcopenia in Older People of 2010 (EWGSOP1) and of 2018 (EWGSOP2) criteria. Sensitivity, specificity, positive and negative likelihood ratio, and the area under the receiver operating characteristic curve (AUC) were used to assess the diagnostic performance of SARC-F-3 and MSRA-5., Results: SARC-F-3 showed a sensitivity of 9.7%, a specificity of 82.8% and an AUC of 0.41 using EWGSOP1, whereas the sensitivity was of 16.7%, specificity of 84.7% and AUC of 0.58 using EWGSOP2. The MSRA-5 displayed a sensitivity of 3.2%, a specificity of 89.9% and an AUC of 0.41 using EWGSOP1, whereas sensitivity was of 0%, specificity of 91.1% and the AUC of 0.55 using EWGSOP2 criteria. The questionnaires showed a moderate agreement (Cohen's k = 0.53)., Conclusions: In our sample of AD patients, a sizable number of sarcopenic individuals were misidentified by SARC-F-3 and MSRA-5, making those questionnaires unsuitable for sarcopenia screening. Considering that sarcopenia has a high prevalence in dementia and that its correct and timely identification is paramount for optimal management of patients, the development and validation of an ad-hoc sarcopenia screening tool for AD patients is highly desirable., (© 2022. The Author(s).)
Published: 2022
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48. Role of plasma phosphorylated neurofilament heavy chain (pNfH) in amyotrophic lateral sclerosis.

Author: Zecca C, Dell'Abate MT, Pasculli G, Capozzo R, Barone R, Arima S, Pollice A, Brescia V, Tortelli R, and Logroscino G
Subjects: Biomarkers, Humans, Intermediate Filaments, Neurofilament Proteins, Retrospective Studies, Amyotrophic Lateral Sclerosis diagnosis
Abstract: The phosphorylated neurofilament heavy chain (pNfH) is a promising biomarker in amyotrophic lateral sclerosis (ALS). We examined plasma pNfH concentrations in order to corroborate its role as a diagnostic and prognostic biomarker in ALS. Incident ALS cases enrolled in a population-based registry were retrospectively selected and matched by sex and age with a cohort of healthy volunteers. Plasma pNfH levels were measured by an ELISA kit and correlated with clinical parameters. Discrimination ability of pNfH was tested using receiving operating characteristic (ROC) curves. Kaplan-Meier (KM) analysis and Cox proportional hazard models were used for survival analysis. Plasma pNfH was significantly higher in patients compared to controls. An optimal cut-off of 39.74 pg/ml discriminated cases from controls with an elevated sensitivity and specificity. Bulbar-onset cases had higher plasma pNfH compared to spinal onset (p = 0.0033). Furthermore, plasma pNfH positively correlated with disease progression rate (r = 0.19, p = 0.031). Baseline plasma pNfH did not influence survival in our cohort. Our findings confirmed the potential utility of plasma pNfH as a diagnostic biomarker in ALS. However, further studies with longitudinal data are needed to corroborate its prognostic value., (© 2022 The Authors. Journal of Cellular and Molecular Medicine published by Foundation for Cellular and Molecular Medicine and John Wiley & Sons Ltd.)
Published: 2022
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49. A Remote Digital Monitoring Platform to Assess Cognitive and Motor Symptoms in Huntington Disease: Cross-sectional Validation Study.

Author: Lipsmeier F, Simillion C, Bamdadian A, Tortelli R, Byrne LM, Zhang YP, Wolf D, Smith AV, Czech C, Gossens C, Weydt P, Schobel SA, Rodrigues FB, Wild EJ, and Lindemann M
Subjects: Cognition, Cross-Sectional Studies, Humans, Oligonucleotides, Reproducibility of Results, Sensitivity and Specificity, Huntington Disease diagnosis, Huntington Disease psychology, Huntington Disease therapy, Motor Skills
Abstract: Background: Remote monitoring of Huntington disease (HD) signs and symptoms using digital technologies may enhance early clinical diagnosis and tracking of disease progression, guide treatment decisions, and monitor response to disease-modifying agents. Several recent studies in neurodegenerative diseases have demonstrated the feasibility of digital symptom monitoring., Objective: The aim of this study was to evaluate a novel smartwatch- and smartphone-based digital monitoring platform to remotely monitor signs and symptoms of HD., Methods: This analysis aimed to determine the feasibility and reliability of the Roche HD Digital Monitoring Platform over a 4-week period and cross-sectional validity over a 2-week interval. Key criteria assessed were feasibility, evaluated by adherence and quality control failure rates; test-retest reliability; known-groups validity; and convergent validity of sensor-based measures with existing clinical measures. Data from 3 studies were used: the predrug screening phase of an open-label extension study evaluating tominersen (NCT03342053) and 2 untreated cohorts-the HD Natural History Study (NCT03664804) and the Digital-HD study. Across these studies, controls (n=20) and individuals with premanifest (n=20) or manifest (n=179) HD completed 6 motor and 2 cognitive tests at home and in the clinic., Results: Participants in the open-label extension study, the HD Natural History Study, and the Digital-HD study completed 89.95% (1164/1294), 72.01% (2025/2812), and 68.98% (1454/2108) of the active tests, respectively. All sensor-based features showed good to excellent test-retest reliability (intraclass correlation coefficient 0.89-0.98) and generally low quality control failure rates. Good overall convergent validity of sensor-derived features to Unified HD Rating Scale outcomes and good overall known-groups validity among controls, premanifest, and manifest participants were observed. Among participants with manifest HD, the digital cognitive tests demonstrated the strongest correlations with analogous in-clinic tests (Pearson correlation coefficient 0.79-0.90)., Conclusions: These results show the potential of the HD Digital Monitoring Platform to provide reliable, valid, continuous remote monitoring of HD symptoms, facilitating the evaluation of novel treatments and enhanced clinical monitoring and care for individuals with HD., (©Florian Lipsmeier, Cedric Simillion, Atieh Bamdadian, Rosanna Tortelli, Lauren M Byrne, Yan-Ping Zhang, Detlef Wolf, Anne V Smith, Christian Czech, Christian Gossens, Patrick Weydt, Scott A Schobel, Filipe B Rodrigues, Edward J Wild, Michael Lindemann. Originally published in the Journal of Medical Internet Research (https://www.jmir.org), 28.06.2022.)
Published: 2022
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50. The Relationship Between Muscle Strength and Cognitive Performance Across Alzheimer's Disease Clinical Continuum.

Author: Filardi M, Barone R, Bramato G, Nigro S, Tafuri B, Frisullo ME, Zecca C, Tortelli R, and Logroscino G
Abstract: Alzheimer's disease (AD) is a neurodegenerative disorder characterized by a progressive cognitive decline, mostly prominent in the domain of memory, but also associated with other cognitive deficits and non-cognitive symptoms. Reduced muscle strength is common in AD. However, the current understanding of its relationship with cognitive decline is limited. This study investigates the relationship between muscle strength and cognition in patients with AD and mild cognitive impairment (MCI). We enrolled 148 consecutive subjects, including 74 patients with probable AD dementia, 37 MCI, and 37 controls. Participants underwent neuropsychological evaluation focused on attention, working memory, declarative memory and learning. Muscle strength and muscle mass were measured through hand dynamometer and bio-electrical impedance analysis, respectively. Patients with AD dementia were divided with respect to the severity of cognitive impairment into mild and moderate-to-severe patients. Moderate-to-severe patients with AD presented lower handgrip strength than MCI and controls. No differences were observed in muscle mass. In MCI and AD dementia, handgrip strength was associated with overall cognitive functioning, attentional and memory performance. The routine implementation of handgrip strength assessment in the clinical work-up of patients with MCI and AD could potentially represent a simple method to monitor functional and cognitive decline along the disease course., Competing Interests: RT is a full-time employee of F. Hoffmann-La Roche, Ltd., outside of the submitted work. GL reports personal fees from Roche and Amplifon, outside of the submitted work. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Filardi, Barone, Bramato, Nigro, Tafuri, Frisullo, Zecca, Tortelli and Logroscino.)
Published: 2022
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