Article
Reduced-penetrance Huntington's disease-causing alleles with 39 CAG trinucleotide repeats could be a genetic factor of amyotrophic lateral sclerosis.
Journal of the Chinese Medical Association : JCMA - 1 Jan 2023
Jih Kang-Yang, Lai Kuan-Lin, Lin Kon-Ping, Liao Yi-Chu, Lee Yi-Chung
Abstract excerpt
BACKGROUND: Expanded HTT alleles with 40 or more CAG repeats were recently found to be a rare cause of frontotemporal dementia and amyotrophic lateral sclerosis (ALS) spectrum diseases. The aim of this study was to investigate the role of HTT repeat expansions in a Taiwanese cohort with ALS. METHODS: We analyzed the numbers of CAG repeats in exon 1 of HTT in a cohort of 410 Taiwanese patients with ALS and 1514...
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