期刊
JOURNAL OF THE CHINESE MEDICAL ASSOCIATION
卷 86, 期 1, 页码 47-51出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/JCMA.0000000000000837
关键词
Amyotrophic lateral sclerosis; Huntington's disease; HTT; Polyglutamine expansion
This study investigated the role of HTT repeat expansions in a Taiwanese cohort with ALS. The results showed that only one out of 410 ALS patients carried an HTT allele with 39 CAG repeats and none had HTT allele with 40 or more CAG repeats. The findings suggest that the HTT allele with 39 CAG repeats may be linked to ALS susceptibility.
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 control individuals by utilizing polymerase chain reaction and amplicon fragment length analysis. Results:Only 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. Conclusion:The HTT allele with 39 CAG repeats could be a genetic factor linked to ALS susceptibility.
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