Somatic instability of theFGF14-SCA27B GAA·TTC repeat reveals a marked expansion bias in the cerebellum | Synapse

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Synapse has enriched 8 closely related papers on similar clinical questions. Consider them for comparative context:

1A cerebellar ataxia patient harboring 229 pure <scp>GAA</scp> repeat units in <i>FGF14</i> presenting with grip myotonia2024 · 1 citations
2Delineating the pathogenic threshold and phenotypic spectrum of SCA27B: findings from a large French–Canadian cohort2025 · 11 citations
3Unveiling pathogenic and non-pathogenic FGF14 repeat expansions: identification, sequence, and secondary structure2024 · 47 citations
4Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions2024 · 47 citations
5<scp>GAA</scp>‐<scp><i>FGF14</i></scp> Expansions and <scp><i>CACNA1A</i></scp> Variants: Phenotypic Overlap and Diagnostic Implications2025 · 5 citations
6Phenotype and Genetics of Spinocerebellar Ataxia Type 27B: Novel Movement-disorder Features, Cognitive Impairment, and Repeat Expansion FindingsCross-Sectional Study · 2026 · 1 citations
7FGF14 (GAA∙TTC) repeat expansion-related ataxia SCA27B is common in Northern FinlandCohort Study · 2025 · 3 citations
8Characteristics of a Cohort of Individuals With SCA27B Associated With Repeat Expansions in FGF14Cohort Study · 2026

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