Chorea-predominant SCA5 mimicking Huntington's disease: A case report with a novel

Peng Lei, Ying Chi, Jie Xia, Tao Wang, Ling Zhong

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Article in Clinical parkinsonism & related disorders, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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5 authors.

Peng LeiDepartment of Neurology, Yichang Central People's Hospital, Affiliated Central People's Hospital, China Three Gorges University, Yichang, China.

Ying ChiDepartment of Neurology, Yichang Central People's Hospital, Affiliated Central People's Hospital, China Three Gorges University, Yichang, China.

Jie XiaDepartment of Neurology, Yichang Central People's Hospital, Affiliated Central People's Hospital, China Three Gorges University, Yichang, China.

Tao WangDepartment of Neurology, Yichang Central People's Hospital, Affiliated Central People's Hospital, China Three Gorges University, Yichang, China.

Ling ZhongDepartment of Neurology, Affiliated Renhe Hospital, China Three Gorges University, Yichang, China.

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6 · The paper itself

Abstract

Background: Chorea has diverse etiologies, with Huntington's disease (HD) being the most common genetic cause. While spinocerebellar ataxias (SCAs) rarely present with chorea, SCA5 is typically regarded as a "pure" cerebellar syndrome. To our knowledge, chorea has not been previously reported as the predominant manifestation of SCA5. Case presentation: A 51-year-old male presented with progressive dysarthria and generalized chorea. Family history suggested autosomal dominant inheritance. Cranial MRI revealed cerebellar atrophy and frontal-horn enlargement. Initially misdiagnosed with HD, he received olanzapine, achieving partial relief. Whole-exome sequencing (WES) subsequently identified a novel heterozygous missense variant in Conclusion: This case demonstrates that

Indexed as

ChoreaHeterozygous variantHuntington disease mimicSCA5SPTBN2

Identifiers

PMID42787983

DOI10.1016/j.prdoa.2026.100501

PMCPMC13602729

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