Spinocerebellar ataxias masquerading as movement disorders: clinical and genetic characterization.

ABSTRACT:

Background

Spinocerebellar ataxias (SCAs) exhibit substantial clinical and genetic heterogeneity. SCAs primarily present with progressive ataxia as the cardinal clinical feature. However, they may co-occur with non-ataxic motor symptoms, including various movement disorders. Notably, certain SCA subtypes may present with movement disorders as their primary manifestation. This phenotypic complexity poses significant diagnostic challenges, particularly in distinguishing SCAs from other neurodegenerative conditions with overlapping presentations.

Methods

This study enrolled 35 probands initially diagnosed with movement disorders. Participants were stratified into hypokinetic movement disorders and hyperkinetic movement disorders groups. After excluding known genetic causes of m

SUBMITTER: Wei S 

PROVIDER: S-EPMC12459117 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature