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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...

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Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
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.
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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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