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• W3136297434 abstract "5-10% of amyotrophic lateral sclerosis (ALS) patients presented a positive family history (fALS). More than 30 genes have been identified in association with ALS/frontotemporal dementia (FTD) spectrum, with four major genes accounting for 60-70% of fALS. In this paper, we aimed to assess the contribution to the pathogenesis of major and rare ALS/FTD genes in ALS patients.We analyzed ALS and ALS/FTD associated genes by direct sequencing or next-generation sequencing multigene panels in ALS patients.Genetic abnormalities in ALS major genes included repeated expansions of hexanucleotide in C9orf72 gene (7.3%), mutations in SOD1 (4.9%), FUS (2.1%), and TARDBP (2.4%), whereas variants in rare ALS/FTD genes affected 15.5% of subjects overall, most frequently involving SQSTM1 (3.4%), and CHMP2B (1.9%). We found clustering of variants in ALS major genes in patients with a family history for pure ALS, while ALS/FTD related genes mainly occurred in patients with a family history for other neurodegenerative diseases (dementia and/or parkinsonism).Our data support the presence of two different genetic components underlying ALS pathogenesis, related to the presence of a family history for ALS or other neurodegenerative diseases. Thus, family history may help in optimizing the genetic screening protocol to be applied." @default.
• W3136297434 created "2021-03-29" @default.
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• W3136297434 date "2021-03-26" @default.
• W3136297434 modified "2023-10-02" @default.
• W3136297434 title "Targeted sequencing panels in Italian ALS patients support different etiologies in the ALS/FTD continuum" @default.
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• W3136297434 doi "https://doi.org/10.1007/s00415-021-10521-w" @default.
• W3136297434 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/8463338" @default.
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