Epidemiological, Clinical and Genetic Features of ALS in the Last Decade: A Prospective Population-Based Study in the Emilia Romagna Region of Italy.

Autor: Gianferrari G; Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, 41125 Modena, Italy., Martinelli I; Department of Neurosciences, Azienda Ospedaliero Universitaria di Modena, 41125 Modena, Italy.; Clinical and Experimental Medicine Ph.D. Program, University of Modena and Reggio Emilia, 41125 Modena, Italy., Zucchi E; Department of Neurosciences, Azienda Ospedaliero Universitaria di Modena, 41125 Modena, Italy., Simonini C; Department of Neurosciences, Azienda Ospedaliero Universitaria di Modena, 41125 Modena, Italy., Fini N; Department of Neurosciences, Azienda Ospedaliero Universitaria di Modena, 41125 Modena, Italy., Vinceti M; Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, 41125 Modena, Italy.; Department of Science of Public Health, Research Centre in Environmental, Genetic and Nutritional Epidemiology, University of Modena and Reggio Emilia, 41125 Modena, Italy., Ferro S; Department of Hospital Services, Emilia Romagna Regional Health Authority, 40127 Bologna, Italy., Gessani A; Department of Neurosciences, Azienda Ospedaliero Universitaria di Modena, 41125 Modena, Italy., Canali E; Neurology Unit, Arcispedale Santa Maria Nuova, AUSL-IRCCS Reggio Emilia, 42123 Reggio Emilia, Italy., Valzania F; Neurology Unit, Arcispedale Santa Maria Nuova, AUSL-IRCCS Reggio Emilia, 42123 Reggio Emilia, Italy., Sette E; Department of Neuroscience and Rehabilitation, St. Anna Hospital, 44124 Ferrara, Italy., Pugliatti M; Department of Neuroscience and Rehabilitation, St. Anna Hospital, 44124 Ferrara, Italy.; Department of Neuroscience and Rehabilitation, University of Ferrara, 44121 Ferrara, Italy., Tugnoli V; Department of Neuroscience and Rehabilitation, St. Anna Hospital, 44124 Ferrara, Italy., Zinno L; Department of Neuroscience, University of Parma, 43121 Parma, Italy., Stano S; Department of Neuroscience, University of Parma, 43121 Parma, Italy., Santangelo M; Department of Neurology, Carpi Hospital, 41014 Modena, Italy., De Pasqua S; Department of Neurology, Carpi Hospital, 41014 Modena, Italy., Terlizzi E; Department of Neurology, G. Da Saliceto Hospital, 29121 Piacenza, Italy., Guidetti D; Department of Neurology, G. Da Saliceto Hospital, 29121 Piacenza, Italy., Medici D; Department of Neurology, Fidenza Hospital, 43036 Parma, Italy., Salvi F; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bellaria Hospital, 40139 Bologna, Italy., Liguori R; Dipartimento di Scienze Biomediche e Neuromotorie, University of Bologna and IRCCS Istituto delle Scienze Neurologiche di Bologna, Bellaria Hospital, 40139 Bologna, Italy., Vacchiano V; Dipartimento di Scienze Biomediche e Neuromotorie, University of Bologna and IRCCS Istituto delle Scienze Neurologiche di Bologna, Bellaria Hospital, 40139 Bologna, Italy., Casmiro M; Department of Neurology, Faenza and Ravenna Hospital, 48121 Ravenna, Italy., Querzani P; Department of Neurology, Faenza and Ravenna Hospital, 48121 Ravenna, Italy., Currò Dossi M; Department of Neurology, Infermi Hospital, 47923 Rimini, Italy., Patuelli A; Department of Neurology and Stroke Unit, 'Morgagni-Pierantoni' Hospital, 47121 Forlì, Italy., Morresi S; Department of Neurology and Stroke Unit, Bufalini Hospital, 47521 Cesena, Italy., Longoni M; Department of Neurology, Infermi Hospital, 47923 Rimini, Italy.; Department of Neurology and Stroke Unit, Bufalini Hospital, 47521 Cesena, Italy., De Massis P; Department of Neurology, Imola Hospital, 40026 Bologna, Italy., Rinaldi R; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Interaziendale Clinica Neurologica Metropolitana (NeuroMet), 40139 Bologna, Italy., Borghi A; IRCCS Istituto delle Scienze Neurologiche di Bologna, Department of Neurology and Stroke Center, Maggiore Hospital, 40133 Bologna, Italy., Errals Group, Amedei A; Department of Experimental and Clinical Medicine, University of Florence, 50134 Florence, Italy.; SOD of Interdisciplinary Internal Medicine, Azienda Ospedaliera Universitaria Careggi (AOUC), 50134 Florence, Italy., Mandrioli J; Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, 41125 Modena, Italy.; Department of Neurosciences, Azienda Ospedaliero Universitaria di Modena, 41125 Modena, Italy.
Jazyk: angličtina
Zdroj: Biomedicines [Biomedicines] 2022 Mar 31; Vol. 10 (4). Date of Electronic Publication: 2022 Mar 31.
DOI: 10.3390/biomedicines10040819
Abstrakt: Increased incidence rates of amyotrophic lateral sclerosis (ALS) have been recently reported across various Western countries, although geographic and temporal variations in terms of incidence, clinical features and genetics are not fully elucidated. This study aimed to describe demographic, clinical feature and genotype-phenotype correlations of ALS cases over the last decade in the Emilia Romagna Region (ERR). From 2009 to 2019, our prospective population-based registry of ALS in the ERR of Northern Italy recorded 1613 patients receiving a diagnosis of ALS. The age- and sex-adjusted incidence rate was 3.13/100,000 population (M/F ratio: 1.21). The mean age at onset was 67.01 years; women, bulbar and respiratory phenotypes were associated with an older age, while C9orf72-mutated patients were generally younger. After peaking at 70-75 years, incidence rates, among women only, showed a bimodal distribution with a second slight increase after reaching 90 years of age. Familial cases comprised 12%, of which one quarter could be attributed to an ALS-related mutation. More than 70% of C9orf72-expanded patients had a family history of ALS/fronto-temporal dementia (FTD); 22.58% of patients with FTD at diagnosis had C9orf72 expansion (OR 6.34, p = 0.004). In addition to a high ALS incidence suggesting exhaustiveness of case ascertainment, this study highlights interesting phenotype-genotype correlations in the ALS population of ERR.
Databáze: MEDLINE
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