Characteristics of a Cohort of Individuals With SCA27B Associated With Repeat Expansions in FGF14
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.
Authors
- Sarah C Anderson
- Marco Mancuso-Marcello (ORCID: https://orcid.org/0000-0001-9412-9099)
- Miriam Rodrigues (ORCID: https://orcid.org/0000-0003-1215-4165)
- Mark Simpson
- Shilpan G Patel (ORCID: https://orcid.org/0000-0002-0633-9035)
Institutions
- Auckland City Hospital (NZ)
Publication Details
- Journal
- Neurology Genetics
- Published
- 2026-09-01
- DOI
- https://doi.org/10.1212/nxg.0000000000200424
- Primary Topic
- Parathyroid Disorders and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Neurological Foundation of New Zealand