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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
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, clinica...
Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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MDPI
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9031824/ https://www.ncbi.nlm.nih.gov/pubmed/35453569 http://dx.doi.org/10.3390/biomedicines10040819 |
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author | Gianferrari, Giulia Martinelli, Ilaria Zucchi, Elisabetta Simonini, Cecilia Fini, Nicola Vinceti, Marco Ferro, Salvatore Gessani, Annalisa Canali, Elena Valzania, Franco Sette, Elisabetta Pugliatti, Maura Tugnoli, Valeria Zinno, Lucia Stano, Salvatore Santangelo, Mario De Pasqua, Silvia Terlizzi, Emilio Guidetti, Donata Medici, Doriana Salvi, Fabrizio Liguori, Rocco Vacchiano, Veria Casmiro, Mario Querzani, Pietro Currò Dossi, Marco Patuelli, Alberto Morresi, Simonetta Longoni, Marco De Massis, Patrizia Rinaldi, Rita Borghi, Annamaria Amedei, Amedeo Mandrioli, Jessica |
author_facet | Gianferrari, Giulia Martinelli, Ilaria Zucchi, Elisabetta Simonini, Cecilia Fini, Nicola Vinceti, Marco Ferro, Salvatore Gessani, Annalisa Canali, Elena Valzania, Franco Sette, Elisabetta Pugliatti, Maura Tugnoli, Valeria Zinno, Lucia Stano, Salvatore Santangelo, Mario De Pasqua, Silvia Terlizzi, Emilio Guidetti, Donata Medici, Doriana Salvi, Fabrizio Liguori, Rocco Vacchiano, Veria Casmiro, Mario Querzani, Pietro Currò Dossi, Marco Patuelli, Alberto Morresi, Simonetta Longoni, Marco De Massis, Patrizia Rinaldi, Rita Borghi, Annamaria Amedei, Amedeo Mandrioli, Jessica |
author_sort | Gianferrari, Giulia |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-9031824 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-90318242022-04-23 Epidemiological, Clinical and Genetic Features of ALS in the Last Decade: A Prospective Population-Based Study in the Emilia Romagna Region of Italy Gianferrari, Giulia Martinelli, Ilaria Zucchi, Elisabetta Simonini, Cecilia Fini, Nicola Vinceti, Marco Ferro, Salvatore Gessani, Annalisa Canali, Elena Valzania, Franco Sette, Elisabetta Pugliatti, Maura Tugnoli, Valeria Zinno, Lucia Stano, Salvatore Santangelo, Mario De Pasqua, Silvia Terlizzi, Emilio Guidetti, Donata Medici, Doriana Salvi, Fabrizio Liguori, Rocco Vacchiano, Veria Casmiro, Mario Querzani, Pietro Currò Dossi, Marco Patuelli, Alberto Morresi, Simonetta Longoni, Marco De Massis, Patrizia Rinaldi, Rita Borghi, Annamaria Amedei, Amedeo Mandrioli, Jessica Biomedicines Article 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. MDPI 2022-03-31 /pmc/articles/PMC9031824/ /pubmed/35453569 http://dx.doi.org/10.3390/biomedicines10040819 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article Gianferrari, Giulia Martinelli, Ilaria Zucchi, Elisabetta Simonini, Cecilia Fini, Nicola Vinceti, Marco Ferro, Salvatore Gessani, Annalisa Canali, Elena Valzania, Franco Sette, Elisabetta Pugliatti, Maura Tugnoli, Valeria Zinno, Lucia Stano, Salvatore Santangelo, Mario De Pasqua, Silvia Terlizzi, Emilio Guidetti, Donata Medici, Doriana Salvi, Fabrizio Liguori, Rocco Vacchiano, Veria Casmiro, Mario Querzani, Pietro Currò Dossi, Marco Patuelli, Alberto Morresi, Simonetta Longoni, Marco De Massis, Patrizia Rinaldi, Rita Borghi, Annamaria Amedei, Amedeo Mandrioli, Jessica Epidemiological, Clinical and Genetic Features of ALS in the Last Decade: A Prospective Population-Based Study in the Emilia Romagna Region of Italy |
title | Epidemiological, Clinical and Genetic Features of ALS in the Last Decade: A Prospective Population-Based Study in the Emilia Romagna Region of Italy |
title_full | Epidemiological, Clinical and Genetic Features of ALS in the Last Decade: A Prospective Population-Based Study in the Emilia Romagna Region of Italy |
title_fullStr | Epidemiological, Clinical and Genetic Features of ALS in the Last Decade: A Prospective Population-Based Study in the Emilia Romagna Region of Italy |
title_full_unstemmed | Epidemiological, Clinical and Genetic Features of ALS in the Last Decade: A Prospective Population-Based Study in the Emilia Romagna Region of Italy |
title_short | Epidemiological, Clinical and Genetic Features of ALS in the Last Decade: A Prospective Population-Based Study in the Emilia Romagna Region of Italy |
title_sort | epidemiological, clinical and genetic features of als in the last decade: a prospective population-based study in the emilia romagna region of italy |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9031824/ https://www.ncbi.nlm.nih.gov/pubmed/35453569 http://dx.doi.org/10.3390/biomedicines10040819 |
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