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. 2022 Mar 31;10(4):819.
doi: 10.3390/biomedicines10040819.

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

Giulia Gianferrari  1 , Ilaria Martinelli  2   3 , Elisabetta Zucchi  2 , Cecilia Simonini  2 , Nicola Fini  2 , Marco Vinceti  1   4 , Salvatore Ferro  5 , Annalisa Gessani  2 , Elena Canali  6 , Franco Valzania  6 , Elisabetta Sette  7 , Maura Pugliatti  7   8 , Valeria Tugnoli  7 , Lucia Zinno  9 , Salvatore Stano  9 , Mario Santangelo  10 , Silvia De Pasqua  10 , Emilio Terlizzi  11 , Donata Guidetti  11 , Doriana Medici  12 , Fabrizio Salvi  13 , Rocco Liguori  14 , Veria Vacchiano  14 , Mario Casmiro  15 , Pietro Querzani  15 , Marco Currò Dossi  16 , Alberto Patuelli  17 , Simonetta Morresi  18 , Marco Longoni  16   18 , Patrizia De Massis  19 , Rita Rinaldi  20 , Annamaria Borghi  21 , Errals Group, Amedeo Amedei  22   23 , Jessica Mandrioli  1   2
Affiliations

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

Giulia Gianferrari et al. Biomedicines. .

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.

Keywords: amyotrophic lateral sclerosis; clinical features; epidemiology; genetics; incidence; population-based registry.

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Conflict of interest statement

J.M. received research grants from the Fondazione Italiana di Ricerca per la Sclerosi Laterale Amiotrofica (ARISLA), the Agenzia Italiana del Farmaco (AIFA), the Italian Ministry of Health, the Emilia Romagna Regional Health Authority, Pfizer and Roche. The funders had no role in the design of the study; in the collection, analyses, or interpretation of data; in the writing of the manuscript, or in the decision to publish the results.

Figures

Figure 1
Figure 1
Incidence rates for 5–year age classes in males and females.
See this image and copyright information in PMC

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