ArticleJournal of the Chinese Medical Association : JCMA2023
Reduced-penetrance Huntington's disease-causing alleles with 39 CAG trinucleotide repeats could be a genetic factor of amyotrophic lateral sclerosis.
Article in Journal of the Chinese Medical Association : JCMA, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 11 citations in OpenAlex.
- Two Decades of Huntington's Disease in Varna, Bulgaria: A Retrospective Single-Centre Study of Clinical Trends and Challenges.Neurology international · 2025Article
- Comprehensive identification of pathogenic tandem repeat expansions in sporadic amyotrophic lateral sclerosis: advantages of long-read vs. short-read sequencing.Experimental biology and medicine (Maywood, N.J.) · 2025Article
- Viral and non-viral cellular therapies for neurodegeneration.Frontiers in medicine · 2025Review
- Winners of the 2023 honor awards for excellence at the annual meeting of the Chinese Medical Association-Taipei: Part VI.Journal of the Chinese Medical Association : JCMA · 2024Article
- TBK1 p.Y153Qfs*9 variant may be associated with young-onset, rapidly progressive amyotrophic lateral sclerosis through a haploinsufficiency mechanism.Journal of the Chinese Medical Association : JCMA · 2024Article
- Repeat expansions inBrain communications · 2024Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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.
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