ArticleCerebellum (London, England)2026
Very Low Frequency of SCA27B Among Undiagnosed Cerebellar Ataxia Patients in Peru.
Article in Cerebellum (London, England), 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Spinocerebellar ataxia type 27B (SCA27B) is a recently described autosomal dominant ataxia caused by a pathogenic GAA repeat expansion in the FGF14 gene. The frequency and the distribution of FGF14 repeat alleles remain largely unexplored in underrepresented populations, particularly in Latin America. To investigate the frequency of SCA27B and characterize the allelic distribution of the GAA-FGF14 microsatellite locus in a Peruvian cohort of individuals with ataxia of unknown molecular etiology. We analysed a cohort of affected individuals evaluated at a referral center for neurogenetic disorders in Peru. All individuals underwent standardized neurological assessment, as well as molecular analysis of the GAA-FGF14 repeat locus using repeat-primed and long-range PCR-based approaches. One genetically confirmed case of SCA27B was identified, corresponding to a frequency of 0.6% (1/167) in this cohort. Most alleles (91.61%) were within the non-pathogenic range (< 250 repeats), 85.3% of them with less than 30 repeats. Notably, 16.17% of individuals carried non-GAA-pure expanded alleles with a complex [(GAA)
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