Ocular Motor and Vestibular Profile in Spinocerebellar Ataxia Type 27B: Toward a Practical Bedside Diagnostic Framework

Abstract excerpt

<title>Abstract</title> <p>Spinocerebellar ataxia type 27B (SCA27B), caused by GAA repeat expansions in <italic>FGF14</italic>, is an increasingly recognized form of late-onset cerebellar ataxia. However, early diagnosis remains challenging due to mild or absent cerebellar motor signs and often normal brain magnetic resonance imaging (MRI). Oculovestibular abnormalities, although prevalent, are frequently overloo...

Topics

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• Ataxia
• Ataxia Telangiectasia
• Disease Progression
• Eye Movements
• Friedreich Ataxia
• Genotype
• Phenotype
• Spinocerebellar Degenerations

Identifiers and source

Literature Corpus work

5a475d47-1ec9-53e5-ae36-39a7441f5167

DOI

10.21203/rs.3.rs-6595255/v1