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spinocerebellar ataxia type 27 (SCA-27)

Epidemiology: - single Dutch family, German family Genetics: - linked to mutation in FGF14 gene on chromosome 13q34 Clinical manifestations: 1) slowly progressive cerebellar ataxia 2) early onset tremor 3) dyskinesia

Related

fibroblast growth factor 14; FGF-14; fibroblast growth factor homologous factor 4; FHF-4 (FGF14 FHF4)

General

spinocerebellar ataxia (SCA)

Database Correlations

OMIM 609307

References

  1. Duenas AM et al, Molecular pathogenesis of spinocerebellar ataxias. Brain. 2006, 120:1357 PMID: 16613893
  2. Koeppen AH et al, The pathogenesis of spinocerebellar ataxia. Cerebellum 2005, 4:62 PMID: 15895563
  3. UpToDate version 14.2
  4. OMIM :accession 609307