ArticleMovement disorders : official journal of the Movement Disorder Society2026
Clinical, Genetic, and Imaging Characteristics of SCA27B: Insights from a Large Dutch Cohort.
Article in Movement disorders : official journal of the Movement Disorder Society, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- GAA-FGF14 Ataxia Is a Frequently Overlooked Cause of Sporadic Adult-Onset Ataxia.Clinical genetics · 2026Article
- Phenotype and Genetics of Spinocerebellar Ataxia Type 27B: Novel Movement-disorder Features, Cognitive Impairment, and Repeat Expansion Findings.Cerebellum (London, England) · 2026Article
- ON/OFF Phenomenon in 4-Aminopyridine Therapy in Spinocerebellar Ataxia 27B: Therapeutic and Diagnostic Insights.Movement disorders clinical practice · 2026Article
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Authors and funding
27 authors.
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Abstract
backgroundDeep intronic GAA repeat expansions in intron 1 of the FGF14 gene were identified in 2023 as cause of late-onset cerebellar ataxia. Since then, GAA-FGF14-related ataxia (SCA27B) has emerged as one of the most common genetic causes of late-onset cerebellar ataxia.
objectivesTo describe the clinical, genetic, and imaging features of a large Dutch cohort.
methodsThe Radboudumc genetic database was queried for GAA-FGF14 expansions ≥200. Repeat length was assessed using locus-spanning polymerase chain reaction (PCR), repeat-primed PCR, and PacBio sequencing. A subset was validated using Oxford Nanopore. Clinical and imaging data were retrospectively reviewed.
results127 individuals with GAA-FGF14 expansions ≥200 were identified; clinical data were available from 116, including 109 symptomatic and 7 asymptomatic/presymptomatic individuals. Fifteen individuals carried GAA
conclusionsCore SCA27B features emerge in those carrying GAA
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