TY - JOUR
T1 - Genetic investigation of amyotrophic lateral sclerosis patients in south Italy
T2 - a two-decade analysis
AU - Ungaro, Carmine
AU - Sprovieri, Teresa
AU - Morello, Giovanna
AU - Perrone, Benedetta
AU - Spampinato, Antonio Gianmaria
AU - Simone, Isabella Laura
AU - Trojsi, Francesca
AU - Monsurrò, Maria Rosaria
AU - Spataro, Rossella
AU - La Bella, Vincenzo
AU - Andò, Sebastiano
AU - Cavallaro, Sebastiano
AU - Conforti, Francesca Luisa
N1 - Funding Information:
We thank all the patients and their families for agreeing to participate in genetic studies. We would also like to extend our thanks to the technicians and researchers of the Molecular Genetics laboratory of the Institute of Neurological Sciences, CNR, Mangone, for their help in collaborating with us in the last 20 years. Funding: This work did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors. All authors have read and approved the final version of this manuscript and agreed to be accountable for all aspects of the work.
Publisher Copyright:
© 2020 Elsevier Inc.
Copyright:
Copyright 2020 Elsevier B.V., All rights reserved.
PY - 2020/8/27
Y1 - 2020/8/27
N2 - Amyotrophic lateral sclerosis (ALS) is a multifactorial disease characterized by the interplay of genetic and environmental factors. In the majority of cases, ALS is sporadic, whereas familial forms occur in less than 10% of patients. Herein, we present the results of molecular analyses performed in a large cohort of Italian ALS patients, focusing on novel and already described variations in ALS-linked genes. Our analysis revealed that more than 10% of tested patients carried a mutation in one of the major ALS genes, with C9orf72 hexanucleotide expansion being the most common mutation. In addition, our study confirmed a significant association between ALS patients carrying the ATNX-1 intermediate repeat and the pathological C9orf72 expansion, supporting the involvement of this risk factor in neuronal degeneration. Overall, our study broadens the known mutational spectrum in ALS and provides new insights for a more accurate view of the genetic pattern of the disease.
AB - Amyotrophic lateral sclerosis (ALS) is a multifactorial disease characterized by the interplay of genetic and environmental factors. In the majority of cases, ALS is sporadic, whereas familial forms occur in less than 10% of patients. Herein, we present the results of molecular analyses performed in a large cohort of Italian ALS patients, focusing on novel and already described variations in ALS-linked genes. Our analysis revealed that more than 10% of tested patients carried a mutation in one of the major ALS genes, with C9orf72 hexanucleotide expansion being the most common mutation. In addition, our study confirmed a significant association between ALS patients carrying the ATNX-1 intermediate repeat and the pathological C9orf72 expansion, supporting the involvement of this risk factor in neuronal degeneration. Overall, our study broadens the known mutational spectrum in ALS and provides new insights for a more accurate view of the genetic pattern of the disease.
KW - Amyotrophic lateral sclerosis
KW - Molecular analysis
KW - Sanger sequencing
UR - http://www.scopus.com/inward/record.url?scp=85091236635&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85091236635&partnerID=8YFLogxK
U2 - 10.1016/j.neurobiolaging.2020.08.017
DO - 10.1016/j.neurobiolaging.2020.08.017
M3 - Article
AN - SCOPUS:85091236635
SP - 1e1-1e8
JO - Neurobiology of Aging
JF - Neurobiology of Aging
SN - 0197-4580
ER -