OBJECTIVES: Spinocerebellar ataxia 27B (SCA27B) is a recently discovered genetic cause of idiopathic late-onset cerebellar ataxia (ILOCA) due to guanine-adenine-adenine (GAA) repeat expansions (greater than 250) in FGF14 . We aimed to identify and characterize a New Zealand cohort of patients with SCA27B.
✦ The floor
Discussion
Signed responses from readers of the wire.
Clinicians evaluating adults with unexplained late-onset cerebellar ataxia should be aware of SCA27B (GAA-FGF14) as a newly recognized genetic cause, but specific practice protocols await larger evidence bases; no actionable change to routine audiology practice at this time.
SCA27B is one of the most recently characterized genetic causes of adult-onset cerebellar ataxia and establishing its clinical phenotype will guide future diagnostic algorithms and genetic counseling.
- 01SCA27B is caused by GAA repeat expansions in the FGF14 gene and primarily affects adults.
- 02The condition was only recently identified as a distinct genetic cause of late-onset cerebellar ataxia.
- 03Cohort characterization provides baseline phenotypic data including vestibular and balance features.
- 04Findings published in Neurology Genetics, a peer-reviewed journal.
- 05Improved recognition of SCA27B may reduce the proportion of ataxia cases labeled 'idiopathic'.
GAA repeat expansions in FGF14 are a cause of idiopathic late-onset cerebellar ataxia (SCA27B).
studypartially supported- PMID
- 42699715
- DOI
- 10.1212/NXG.0000000000200424.
- Journal
- Neurology Genetics
- Publication type
- research_article
- Evidence level
- 4
- Population
- Individuals with SCA27B caused by GAA repeat expansions in FGF14
- Intervention
- Characterization of clinical and genetic features of SCA27B cohort
Primary outcomes
Clinical phenotype of SCA27B; Genetic characteristics of FGF14 GAA repeat expansions