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Article

Loss of CAA interruption and intergenerational CAG instability in Chinese patients with Huntington's disease.

Journal of molecular medicine (Berlin, Germany) - 1 Jul 2023

Bao Yu-Feng, Li Xiao-Yan, Dong Yi, Wu Zhi-Ying

Abstract excerpt

Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by CAG expansions in huntingtin (HTT) gene, involving motor, cognitive, and neuropsychiatric symptoms. However, genetic modifiers and CAG repeat instability may lead to variations of clinical manifestations, making diagnosis of HD difficult. In this study, we recruited 229 HD individuals from 164 families carrying expanded CAG...

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Source

Identifiers

PMID: 37231148
DOI: 10.1007/s00109-023-02329-0

Genes

HTT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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