Re-analysis of the Hungarian amyotrophic lateral sclerosis population and evaluation of novel ALS genetic risk variants

Amyotrophic lateral sclerosis (ALS) is a presently incurable neurodegenerative disease. Some genes have a causal relationship to ALS, others act as susceptibility and/or risk factors. We aimed to elucidate the role of 14 ALS-related genes in the Hungarian ALS population of 183 patients. Mutation scr...

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Bibliographic Details
Main Authors: Füstös, D. (Author), Kafui Esi Zodanu, G. (Author), Klivényi, P. (Author), Nagy, Z.F (Author), Pál, M. (Author), Salamon, A. (Author), Széll, M. (Author)
Format: Article
Language:English
Published: Elsevier Inc. 2022
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Online Access:View Fulltext in Publisher
LEADER 02121nam a2200277Ia 4500
001 10.1016-j.neurobiolaging.2022.04.002
008 220706s2022 CNT 000 0 und d
020 |a 01974580 (ISSN) 
245 1 0 |a Re-analysis of the Hungarian amyotrophic lateral sclerosis population and evaluation of novel ALS genetic risk variants 
260 0 |b Elsevier Inc.  |c 2022 
856 |z View Fulltext in Publisher  |u https://doi.org/10.1016/j.neurobiolaging.2022.04.002 
520 3 |a Amyotrophic lateral sclerosis (ALS) is a presently incurable neurodegenerative disease. Some genes have a causal relationship to ALS, others act as susceptibility and/or risk factors. We aimed to elucidate the role of 14 ALS-related genes in the Hungarian ALS population of 183 patients. Mutation screening of major ALS genes was performed. SMN1 and SMN2 genes were examined by multiplex ligation-dependent probe-amplification assay; intermediate repeat expansions in the ATXN1 and ATXN2 genes were analyzed by fragment analysis. Additional variants in putative ALS genes were screened from previously acquired next generation sequencing data. We confirmed the repeat expansion of the C9orf72, ATXN1 and ATXN2 genes as ALS risk factors in this Hungarian cohort. Additionally, we identified a pathogenic SOD1 mutation and suggested its founder effect. A likely pathogenic variant in the MFSD8 gene was detected, and variants of interest were uncovered in the ANXA11 and GLT8D1 genes. We provide valuable data as part of the growing body of work on population-specific aspects of the genetic background of ALS. © 2022 
650 0 4 |a Amyotrophic lateral sclerosis 
650 0 4 |a Multiplex ligation-dependent probe amplification 
650 0 4 |a Mutation screening 
650 0 4 |a Next generation sequencing 
650 0 4 |a Oligogenic inheritance 
650 0 4 |a Risk factors 
700 1 0 |a Füstös, D.  |e author 
700 1 0 |a Kafui Esi Zodanu, G.  |e author 
700 1 0 |a Klivényi, P.  |e author 
700 1 0 |a Nagy, Z.F.  |e author 
700 1 0 |a Pál, M.  |e author 
700 1 0 |a Salamon, A.  |e author 
700 1 0 |a Széll, M.  |e author 
773 |t Neurobiology of Aging