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Genetic analysis of the SOD1 and C9ORF72 genes in Hungarian patients with amyotrophic lateral sclerosis.

Abstract：

:Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the death of motor neurons. To date, more than 20 genes have been implicated in ALS, and of these, the 2 most frequently mutated are the superoxide dismutase 1 (SOD1) gene and the chromosome 9 open reading frame 72 (C9ORF72) gene. In this study, we aimed to investigate the contribution of these 2 Mendelian genes to the development of the disease in Hungarian ALS patients (n = 66). Direct sequencing of the SOD1 gene revealed a novel (p.Lys91ArgfsTer8) and 3 recurrent heterozygous mutations (p.Val14Met, p.Asp90Ala, and p.Leu144Phe) in 5 patients. The novel p.Lys91ArgfsTer8 mutation led to a frameshift causing the addition of 8 new amino acids, including a premature stop codon at position 99. The GGGGCC hexanucleotide repeat expansion of the C9ORF72 gene was present in 1 ALS patient. This study represents the first genetic analysis of 2 major ALS causative genes in a cohort of Hungarian ALS patients and contributes to the further understanding of the genetic and phenotypic diversity of ALS.

journal_name

Neurobiol Aging

journal_title

Neurobiology of aging

authors

Tripolszki K,Csányi B,Nagy D,Ratti A,Tiloca C,Silani V,Kereszty É,Török N,Vécsei L,Engelhardt JI,Klivényi P,Nagy N,Széll M

doi

10.1016/j.neurobiolaging.2017.01.016

subject

Has Abstract

pub_date

2017-05-01 00:00:00

pages

195.e1-195.e5

eissn

0197-4580

issn

1558-1497

pii

S0197-4580(17)30024-6

journal_volume

53

pub_type

杂志文章

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