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Clinical and Genetic Characterization of Autosomal Recessive Spinocerebellar Ataxia Type 16 (SCAR16) in Taiwan.

Cerebellum (London, England) - 1 Aug 2020

Chiu Hsu-Huai, Hsaio Cheng-Tsung, Tsai Yu-Shuen, Liao Yi-Chu, Lee Yi-Chung, Soong Bing-Wen

Abstract excerpt

Mutations in STUB1 have been identified to cause autosomal recessive spinocerebellar ataxia type 16 (SCAR16), also named as Gordon Holmes syndrome, which is characterized by cerebellar ataxia, cognitive decline, and hypogonadism. Additionally, several heterozygous mutations in STUB1 have recently been described as a cause of autosomal dominant spinocerebellar ataxia type 48. STUB1 encodes C-terminus of...

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PMID: 32367277
DOI: 10.1007/s12311-020-01136-4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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