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

Author

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

Abstract

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

Published
2021

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

Author

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

Abstract

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

Published
2021

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

Author

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

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

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

Published
2017

6. Multi-organ investigation in 16 CADASIL families from central Italy sharing the same R1006C mutation

Author

Ragno, M, Pianese, L, Cacchiò, G, Manca, A, Scarcella, M, Silvestri, S, Di Marzio, F, Caiazzo, Ar, Silvaggio, F, Tasca, Giorgio, Mirabella, Massimiliano, Trojano, L., Mirabella, Massimiliano (ORCID:0000-0002-7783-114X), Ragno, M, Pianese, L, Cacchiò, G, Manca, A, Scarcella, M, Silvestri, S, Di Marzio, F, Caiazzo, Ar, Silvaggio, F, Tasca, Giorgio, Mirabella, Massimiliano, Trojano, L., and Mirabella, Massimiliano (ORCID:0000-0002-7783-114X)

Abstract

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) may involve many target organs with relevant variability among affected individuals. We performed a multi-organ assessment tapping nervous system, skeletal muscle and cardiovascular system in thirty-nine individuals belonging to 16 families from Central Italy sharing the same R1006C CADASIL mutation. Stroke prevalence was larger in female patients (66.7%) than in males (23.8%); high levels of CKemia were quite frequent (21.6%) and were related to a myopathy without mitochondrial alterations; several individuals had atrial septal aneurysm (10.3%). No specific relationships between common cardiovascular risk factors and clinical manifestations were found. The present systematic study thus identified several gender-related, myopathic and cardiovascular peculiarities of R1006C mutation. This kind of comprehensive approach is necessary to define clinical course, prognosis and treatment options for a multi-organ disease such as CADASIL.

Published
2012

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

Author

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

Subjects
Aging, medicine.medical_specialty, Cognitive Neuroscience, Population, Psychological intervention, Protective factor, Neurosciences. Biological psychiatry. Neuropsychiatry, burden, 03 medical and health sciences, stress, 0302 clinical medicine, stre, medicine, Dementia, caregiver, COVID-19, dementia, Psychiatry, education, Original Research, MED/26 - NEUROLOGIA, education.field_of_study, 030214 geriatrics, burden, caregiver, COVID-19, dementia, stress, Family caregivers, business.industry, medicine.disease, Mental health, Settore MED/26 - NEUROLOGIA, Anxiety, Caregiver stress, M-PSI/08 - PSICOLOGIA CLINICA, medicine.symptom, business, 030217 neurology & neurosurgery, Neuroscience, RC321-571
Abstract

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

Published
2021

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

Author

Innocenzo Rainero, Amalia C. Bruni, Camillo Marra, Annachiara Cagnin, Laura Bonanni, Chiara Cupidi, Valentina Laganà, Elisa Rubino, Alessandro Vacca, Raffaele Di Lorenzo, Paolo Provero, Valeria Isella, Nicola Vanacore, Federica Agosta, Ildebrando Appollonio, Paolo Caffarra, Cinzia Bussè, Renato Sambati, Davide Quaranta, Valeria Guglielmi, Giancarlo Logroscino, Massimo Filippi, Gioacchino Tedeschi, Carlo Ferrarese, the SINdem COVID-19 Study Group, Erica Gallo, Alberto Grassini, Andrea Marcinnò, Fausto Roveta, Paola De Martino, Francesca Frangipane, Gianfranco Puccio, Rosanna Colao, Maria Mirabelli, Chiara Terracciano, Federica Lino, Stefano Mozzetta, Gianmarco Gazzola, Giulia Camporese, Simona Sacco, Maria Carmela Lechiara, Claudia Carrarini, Mirella Russo, Alfonsina Casa lena, Patrizia Sucapane, Pietro Tiraboschi, Paola Caroppo, Veronica Redaelli, Giuseppe Di Fede, Daniela Coppa, Lenino Peluso, Pasqualina Insarda, Matteo De Bartolo, Sabrina Esposito, Alessandro Iavarone, Carmine Fuschillo, Elena Salvatore, Chiara Criscuolo, Luisa Sambati, Rossella Santoro, Daniela Gragnaniello, Ilaria Pedriali, Livia Ludovico, Annalisa Chiari, Andrea Fabbo, Petra Bevilacqua, Chiara Galli, Silvia Magarelli, Gianfranco Spalletta, Nerisa Banaj, Giulia Caruso, Desirée Estela Porcari, Franco Giubilei, Anna Rosa Casini, Francesca Ursini, Giuseppe Bruno, Stefano Boffelli, Michela Brambilla, Giuseppe Magnani, Francesca Caso, Edoardo G. Spinelli, Elena Sinforiani, Alfredo Costa, Simona Luzzi, Gabriella Cacchiò, A.I.M.A. –sez Parma, Marta Perini, Rossano Angeloni, Cinzia Giuli, Katia Fabi, Marco Guidi, Cristina Paci, Annaelisa Castellano, Elena Carapelle, Rossella Petrucci, Miriam Accogli, Giovanna Nicoletta Trevisi, Serena Renna, Antonella Vasquez Giuliano, Fulvio Da Re, Antonio Milia, Giuseppina Pilia, Maria Giuseppina Mascia, Valeria Putzu, Tommaso Piccoli, Luca Cuffaro, Roberto Monastero, Antonella Battaglia, Valeria Blandino, Federica Lupo, Eduardo Cumbo, Antonina Luca, Giuseppe Caravaglios, Annalisa Vezzosi, Valentina Bessi, Gloria Tognoni, Valeria Calsolaro, Giulia Lucarelli, Serena Amici, Alberto Trequattrini, Salvatore Pezzuto, Patrizia Mecocci, Giulia Caironi, Barbara Boselli, Marino Formilan, Alessandra Coin, Laura De Togni, Francesca Sala, Giulia Sandri, Maurizio Gallucci, Anna Paola Mazzarolo, Cristina Bergamelli, Serena Passoni, Rainero, I., Bruni, A. C., Marra, C., Cagnin, A., Bonanni, L., Cupidi, C., Lagana, V., Rubino, E., Vacca, A., Di Lorenzo, R., Provero, P., Isella, V., Vanacore, N., Agosta, F., Appollonio, I., Caffarra, P., Busse, C., Sambati, R., Quaranta, D., Guglielmi, V., Logroscino, G., Filippi, M., Tedeschi, G., Ferrarese, C., Rainero, I, Bruni, A, Marra, C, Cagnin, A, Bonanni, L, Cupidi, C, Lagana, V, Rubino, E, Vacca, A, Di Lorenzo, R, Provero, P, Isella, V, Vanacore, N, Agosta, F, Appollonio, I, Caffarra, P, Busse, C, Sambati, R, Quaranta, D, Guglielmi, V, Logroscino, G, Filippi, M, Tedeschi, G, Ferrarese, C, Gallo, E, Grassini, A, Marcinnò, A, Roveta, F, De Martino, P, Frangipane, F, Puccio, G, Colao, R, Mirabelli, M, Terracciano, C, Lino, F, Mozzetta, S, Gazzola, G, Camporese, G, Sacco, S, Lechiara, M, Carrarini, C, Russo, M, Casa Lena, A, Sucapane, P, Tiraboschi, P, Caroppo, P, Redaelli, V, Di Fede, G, Coppa, D, Peluso, L, Insarda, P, De Bartolo, M, Esposito, S, Iavarone, A, Fuschillo, C, Salvatore, E, Criscuolo, C, Sambati, L, Santoro, R, Gragnaniello, D, Pedriali, I, Ludovico, L, Chiari, A, Fabbo, A, Bevilacqua, P, Galli, C, Magarelli, S, Spalletta, G, Banaj, N, Caruso, G, Porcari, E, Giubilei, F, Casini, A, Ursini, F, Bruno, G, Boffelli, S, Brambilla, M, Magnani, G, Caso, F, Spinelli, E, Sinforiani, E, Costa, A, Luzzi, S, Cacchiò, G, Perini, M, Angeloni, R, Giuli, C, Fabi, K, Guidi, M, Paci, C, Castellano, A, Carapelle, E, Petrucci, R, Accogli, M, Trevisi, G, Renna, S, Vasquez Giuliano, A, Da Re, F, Milia, A, Pilia, G, Mascia, M, Putzu, V, Piccoli, T, Cuffaro, L, Monastero, R, Battaglia, A, Blandino, V, Lupo, F, Cumbo, E, Luca, A, Caravaglios, G, Vezzosi, A, Bessi, V, Tognoni, G, Calsolaro, V, Lucarelli, G, Amici, S, Trequattrini, A, Pezzuto, S, Mecocci, P, Caironi, G, Boselli, B, Formilan, M, Coin, A, De Togni, L, Sala, F, Sandri, G, Gallucci, M, Mazzarolo, A, Bergamelli, C, Passoni, S, Rainero I., Bruni A.C., Marra C., Cagnin A., Bonanni L., Cupidi C., Lagana V., Rubino E., Vacca A., Lorenzo R.D., Provero P., Isella V., Vanacore N., Agosta F., Appollonio I., Caffarra P., Busse C., Sambati R., Quaranta D., Guglielmi V., Logroscino G., Filippi M., Tedeschi G., Ferrarese C., Gallo E., Grassini A., Marcinno A., Roveta F., De Martino P., Frangipane F., Puccio G., Colao R., Mirabelli M., Terracciano C., Lino F., Mozzetta S., Gazzola G., Camporese G., Sacco S., Lechiara M.C., Carrarini C., Russo M., Casa Lena A., Sucapane P., Tiraboschi P., Caroppo P., Redaelli V., Di Fede G., Coppa D., Peluso L., Insarda P., De Bartolo M., Esposito S., Iavarone A., Fuschillo C., Salvatore E., Criscuolo C., Sambati L., Santoro R., Gragnaniello D., Pedriali I., Ludovico L., Chiari A., Fabbo A., Bevilacqua P., Galli C., Magarelli S., Spalletta G., Banaj N., Caruso G., Estela Porcari D., Giubilei F., Casini A.R., Ursini F., Bruno G., Boffelli S., Brambilla M., Magnani G., Caso F., Spinelli E.G., Sinforiani E., Costa A., Luzzi S., Cacchio G., Perini M., Angeloni R., Giuli C., Fabi K., Guidi M., Paci C., Castellano A., Carapelle E., Petrucci R., Accogli M., Nicoletta Trevisi G., Renna S., Giuliano A.V., Da Re F., Milia A., Pilia G., Mascia M.G., Putzu V., Piccoli T., Cuffaro L., Monastero R., Battaglia A., Blandino V., Lupo F., Cumbo E., Luca A., Caravaglios G., Vezzosi A., Bessi V., Tognoni G., Calsolaro V., Lucarelli G., Amici S., Trequattrini A., Pezzuto S., Mecocci P., Caironi G., Boselli B., Formilan M., Coin A., De Togni L., Sala F., Sandri G., Gallucci M., Mazzarolo A.P., Bergamelli C., Passoni S., Lorenzo, R. D., Gallo, E., Grassini, A., Marcinno, A., Roveta, F., De Martino, P., Frangipane, F., Puccio, G., Colao, R., Mirabelli, M., Terracciano, C., Lino, F., Mozzetta, S., Gazzola, G., Camporese, G., Sacco, S., Lechiara, M. C., Carrarini, C., Russo, M., Casa Lena, A., Sucapane, P., Tiraboschi, P., Caroppo, P., Redaelli, V., Di Fede, G., Coppa, D., Peluso, L., Insarda, P., De Bartolo, M., Esposito, S., Iavarone, A., Fuschillo, C., Salvatore, E., Criscuolo, C., Sambati, L., Santoro, R., Gragnaniello, D., Pedriali, I., Ludovico, L., Chiari, A., Fabbo, A., Bevilacqua, P., Galli, C., Magarelli, S., Spalletta, G., Banaj, N., Caruso, G., Estela Porcari, D., Giubilei, F., Casini, A. R., Ursini, F., Bruno, G., Boffelli, S., Brambilla, M., Magnani, G., Caso, F., Spinelli, E. G., Sinforiani, E., Costa, A., Luzzi, S., Cacchio, G., Perini, M., Angeloni, R., Giuli, C., Fabi, K., Guidi, M., Paci, C., Castellano, A., Carapelle, E., Petrucci, R., Accogli, M., Nicoletta Trevisi, G., Renna, S., Giuliano, A. V., Da Re, F., Milia, A., Pilia, G., Mascia, M. G., Putzu, V., Piccoli, T., Cuffaro, L., Monastero, R., Battaglia, A., Blandino, V., Lupo, F., Cumbo, E., Luca, A., Caravaglios, G., Vezzosi, A., Bessi, V., Tognoni, G., Calsolaro, V., Lucarelli, G., Amici, S., Trequattrini, A., Pezzuto, S., Mecocci, P., Caironi, G., Boselli, B., Formilan, M., Coin, A., De Togni, L., Sala, F., Sandri, G., Gallucci, M., Mazzarolo, A. P., Bergamelli, C., and Passoni, S.

Subjects
Aging, Pediatrics, medicine.medical_specialty, Cognitive Neuroscience, lcsh:RC321-571, 03 medical and health sciences, 0302 clinical medicine, mental disorders, Alzheimer’s disease, BPSD, caregiver burden, COVID-19, dementia, quarantine, medicine, Dementia, BPSD, 030212 general & internal medicine, Vascular dementia, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, Alzheimer’s disease, caregiver burden, COVID-19, dementia, quarantine, Depression (differential diagnoses), Original Research, M-PSI/05 - PSICOLOGIA SOCIALE, MED/26 - NEUROLOGIA, Dementia with Lewy bodies, Family caregivers, business.industry, Odds ratio, medicine.disease, Settore MED/26 - NEUROLOGIA, Distress, MED/17 - MALATTIE INFETTIVE, business, 030217 neurology & neurosurgery, Neuroscience, Frontotemporal dementia
Abstract

IntroductionPrevious studies showed that quarantine for pandemic diseases is associated with several psychological and medical effects. The consequences of quarantine for COVID-19 pandemic in patients with dementia are unknown. We investigated the clinical changes in patients with Alzheimer’s disease and other dementias, and evaluated caregivers’ distress during COVID-19 quarantine.MethodsThe study involved 87 Italian Dementia Centers. Patients with Alzheimer’s Disease (AD), Dementia with Lewy Bodies (DLB), Frontotemporal Dementia (FTD), and Vascular Dementia (VD) were eligible for the study. Family caregivers of patients with dementia were interviewed by phone in April 2020, 45 days after quarantine declaration. Main outcomes were patients’ changes in cognitive, behavioral, and motor symptoms. Secondary outcomes were effects on caregivers’ psychological features.Results4913 patients (2934 females, 1979 males) fulfilled the inclusion criteria. Caregivers reported a worsening in cognitive functions in 55.1% of patients, mainly in subjects with DLB and AD. Aggravation of behavioral symptoms was observed in 51.9% of patients. In logistic regression analysis, previous physical independence was associated with both cognitive and behavioral worsening (odds ratio 1.85 [95% CI 1.42–2.39], 1.84 [95% CI 1.43–2.38], respectively). On the contrary, pandemic awareness was a protective factor for the worsening of cognitive and behavioral symptoms (odds ratio 0.74 [95% CI 0.65–0.85]; and 0.72 [95% CI 0.63–0.82], respectively). Approximately 25.9% of patients showed the onset of new behavioral symptoms. A worsening in motor function was reported by 36.7% of patients. Finally, caregivers reported a high increase in anxiety, depression, and distress.ConclusionOur study shows that quarantine for COVID-19 is associated with an acute worsening of clinical symptoms in patients with dementia as well as increase of caregivers’ burden. Our findings emphasize the importance to implement new strategies to mitigate the effects of quarantine in patients with dementia.

Published
2021

9. Multiple Sclerosis: Inflammatory and Neuroglial Aspects.

Author

Papiri G, D'Andreamatteo G, Cacchiò G, Alia S, Silvestrini M, Paci C, Luzzi S, and Vignini A

Abstract

Multiple sclerosis (MS) represents the most common acquired demyelinating disorder of the central nervous system (CNS). Its pathogenesis, in parallel with the well-established role of mechanisms pertaining to autoimmunity, involves several key functions of immune, glial and nerve cells. The disease's natural history is complex, heterogeneous and may evolve over a relapsing-remitting (RRMS) or progressive (PPMS/SPMS) course. Acute inflammation, driven by infiltration of peripheral cells in the CNS, is thought to be the most relevant process during the earliest phases and in RRMS, while disruption in glial and neural cells of pathways pertaining to energy metabolism, survival cascades, synaptic and ionic homeostasis are thought to be mostly relevant in long-standing disease, such as in progressive forms. In this complex scenario, many mechanisms originally thought to be distinctive of neurodegenerative disorders are being increasingly recognized as crucial from the beginning of the disease. The present review aims at highlighting mechanisms in common between MS, autoimmune diseases and biology of neurodegenerative disorders. In fact, there is an unmet need to explore new targets that might be involved as master regulators of autoimmunity, inflammation and survival of nerve cells.

Published
2023
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10. Parkinsonism is a late, not rare, feature of CADASIL: a study on Italian patients carrying the R1006C mutation.

Author

Ragno M, Berbellini A, Cacchiò G, Manca A, Di Marzio F, Pianese L, De Rosa A, Silvestri S, Scarcella M, and De Michele G

Subjects
Aged, Brain pathology, CADASIL genetics, Exons, Female, Genetic Predisposition to Disease, Humans, Italy, Leukoencephalopathies genetics, Levodopa pharmacology, Magnetic Resonance Imaging methods, Male, Receptor, Notch3, Tomography, Emission-Computed, Single-Photon methods, CADASIL complications, CADASIL physiopathology, Mutation, Parkinsonian Disorders complications, Parkinsonian Disorders genetics, Receptors, Notch genetics
Abstract

Background and Purpose: To describe parkinsonism as a clinical manifestation of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy., Methods: We report 5 patients carrying the R1006C mutation in the exon 19 of NOTCH3 gene. All cases presented late onset, slowly progressive parkinsonism, not responsive to l-dopa. We performed brain MRI and (123)I-FP-CIT SPECT in all and in 3 additional patients carrying the same mutation but without parkinsonism. Four patients with parkinsonism underwent myocardial (123)I-meta-iodobenzylguanidine scintigraphy., Results: In all patients, brain MRI showed widespread ischemic lesions in the periventricular white matter, the internal and external capsules, the basal ganglia, and thalami. (123)I-FP-CIT SPECT showed symmetrical or asymmetrical reduction of tracer uptake in the putamen, with inconstant caudate involvement. Myocardial (123)I-meta-iodobenzylguanidine scintigraphy resulted normal. Nigrostriatal denervation was also demonstrated in 2 patients without parkinsonism., Conclusions: In cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, parkinsonism may be a not rare, late onset manifestation. The clinical picture, the lack of response to dopaminergic treatment, and MRI findings suggest a vascular parkinsonism, which may be preceded by a protracted presymptomatic phase.

Published
2013
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