Clinical and Genetic Characteristics of SCA27B: A Global Systematic Review and Meta-Analysis

Spinocerebellar ataxia 27B (SCA27B) has been recognised as a major cause of sporadic late-onset cerebellar ataxias, accounting for 9-61% of previously unexplained cases. We aimed to describe the clinical, radiological and genetic spectrum of SCA27B through a systematic review of the published literature. A systematic literature search of PubMed, Embase (Ovid), Ovid Medline and Scopus was conducted....

Audiologists and vestibular specialists should be aware that SCA27B (FGF14-related ataxia) is a major and frequently under-recognized cause of late-onset balance and cerebellar dysfunction, warranting consideration during vestibular diagnostic workup in appropriate patients.

SCA27B is now identified as among the most common genetic causes of late-onset cerebellar ataxia with vestibular features, and greater awareness among vestibular clinicians could reduce diagnostic delays for this treatable condition.

1. 01Systematic review and meta-analysis establishes SCA27B as a major cause of sporadic late-onset cerebellar ataxia.
2. 02SCA27B is caused by a GAA repeat expansion in the FGF14 gene.
3. 03Condition has notable vestibular implications including gait instability and balance impairment.
4. 04Global genetic and clinical data were pooled to characterize prevalence and presentation.
5. 05Findings support inclusion of FGF14 genetic testing in late-onset ataxia diagnostic pathways.

PMID

42360552

DOI

10.1007/s12311-026-02043-w.

Journal

The Cerebellum

Publication type

meta_analysis

Evidence level

1a

Population

Patients with sporadic late-onset cerebellar ataxia from global cohorts

Intervention

Characterization of SCA27B clinical and genetic features

Comparator

Other causes of late-onset cerebellar ataxia