Novel Imaging Phenotype in Spinal Cerebellar Ataxia Type 8: Symmetrical White Matter Changes without Cerebellar Atrophy.

doi:10.1007/s12311-026-02019-w

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Article

Novel Imaging Phenotype in Spinal Cerebellar Ataxia Type 8: Symmetrical White Matter Changes without Cerebellar Atrophy.

Cerebellum (London, England) - 9 May 2026

Fang Yongkang, Lu Yuanbing, Zhu Suiqiang, Chen Weiwei, Huang Shanshan

Abstract excerpt

Spinal Cerebellar Ataxia Type 8 (SCA8) is a rare autosomal dominant neurodegenerative disorder characterized by progressive cerebellar dysfunction. It is caused by pathogenic expansions of a CTG/CAG trinucleotide repeat sequence within the ATXN8OS/ATXN8 gene locus on chromosome 13q21. Although cerebellar atrophy is widely recognized as a cardinal neuroimaging feature of SCA8, the phenotypic spectrum remains...

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PMID: 42105044
DOI: 10.1007/s12311-026-02019-w

Genes

ATXN8

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