Journal
NEUROBIOLOGY OF AGING
Volume 53, Issue -, Pages -Publisher
ELSEVIER SCIENCE INC
DOI: 10.1016/j.neurobiolaging.2017.01.016
Keywords
ALS; SOD1; C9ORF72; Mutation screening; Repeat expansion
Categories
Funding
- Hungarian Brain Research Program [KTIA_13_NAP-A-II/15, TAMOP-4.2.2.A-11/1/KONV-2012-0052, TAMOP-4.2.2.A-11/1/KONV-2012-0035]
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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. (C) 2017 Elsevier Inc. All rights reserved.
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