Article
Phenotype and Genetics of Spinocerebellar Ataxia Type 27B: Novel Movement-disorder Features, Cognitive Impairment, and Repeat Expansion Findings.
Cerebellum (London, England) - 29 Jun 2026
Rashedi Ronak, Peemöller Franca, Erdmann Hannes, Gelderblom Mathias, Hidding Ute, Ganos Christos, Chen Robert, Abicht Angela, Zittel Simone
Abstract excerpt
Spinocerebellar ataxia type 27B is a recently described autosomal dominant, late-onset cerebellar ataxia caused by an intronic GAA repeat expansion in the fibroblast growth factor 14 (FGF14) gene. Despite being recognized as a frequent adult-onset ataxia, its full clinical spectrum remains incompletely understood. To characterize the neurological, cognitive, and paraclinical phenotype of patients with...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.