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

Authors :
Giulia Gianferrari
Ilaria Martinelli
Elisabetta Zucchi
Cecilia Simonini
Nicola Fini
Marco Vinceti
Salvatore Ferro
Annalisa Gessani
Elena Canali
Franco Valzania
Elisabetta Sette
Maura Pugliatti
Valeria Tugnoli
Lucia Zinno
Salvatore Stano
Mario Santangelo
Silvia De Pasqua
Emilio Terlizzi
Donata Guidetti
Doriana Medici
Fabrizio Salvi
Rocco Liguori
Veria Vacchiano
Mario Casmiro
Pietro Querzani
Marco Currò Dossi
Alberto Patuelli
Simonetta Morresi
Marco Longoni
Patrizia De Massis
Rita Rinaldi
Annamaria Borghi
ERRALS GROUP
Amedeo Amedei
Jessica Mandrioli
Source :
Biomedicines, Vol 10, Iss 4, p 819 (2022)
Publication Year :
2022
Publisher :
MDPI AG, 2022.

Abstract

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.

Details

Language :
English
ISSN :
22279059
Volume :
10
Issue :
4
Database :
Directory of Open Access Journals
Journal :
Biomedicines
Publication Type :
Academic Journal
Accession number :
edsdoj.135ad94d3dfb4fe89ac3fb784804710f
Document Type :
article
Full Text :
https://doi.org/10.3390/biomedicines10040819