• Kang-Yang Jih, Kuan-Lin Lai, Kon-Ping Lin, Yi-Chu Liao, and Yi-Chung Lee.
• Department of Neurology, Taipei Veterans General Hospital, Taipei, Taiwan, ROC.
• J Chin Med Assoc. 2023 Jan 1; 86 (1): 475147-51.

BackgroundExpanded 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.MethodsWe analyzed the numbers of CAG repeats in exon 1 of HTT in a cohort of 410 Taiwanese patients with ALS and 1514 control individuals by utilizing polymerase chain reaction and amplicon fragment length analysis.ResultsOnly one of the 410 ALS patients carried a reduced-penetrance HD-causing allele with 39 CAG repeats, and none had an expanded HTT CAG repeats ≥40. The patient presented with rapidly progressive bulbar-onset ALS with disease onset at the age of 64 years. He had neither chorea nor cognitive impairment. He had a family history of chorea, but no other family member manifested with ALS. None of the 1514 control individuals carried an HTT expanded allele with CAG repeats larger than 37 repeats.ConclusionThe HTT allele with 39 CAG repeats could be a genetic factor linked to ALS susceptibility.Copyright © 2022, the Chinese Medical Association.

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