Spinocerebellar ataxia type 27A (SCA27A)

Evidence-based neurology checklist on spinocerebellar ataxia type 27a (sca27a): Genetics This is caused by mutations in the fibroblast growth factor 14 (FGF14) gene The gene product regulates brain sodium The transmission is autosomal dominant Ataxia types Tremor features Other associated…

Genetics

  • This is caused by mutations in the fibroblast growth factor 14 (FGF14) gene 
  • The gene product regulates brain sodium
  • The transmission is autosomal dominant

Ataxia types

Tremor features

Other associated neurological features

Psychiatric features

Peripheral features

Differential diagnosis

Treatment of tremor

Investigations

References

  1. Dalski A, Atici J, Kreuz FR, Hellenbroich Y, Schwinger E, Zühlke C. Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias. Eur J Hum Genet 2005; 13:118-120.
  2. van Swieten JC, Brusse E, de Graaf BM, et al. A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia. Am J Hum Genet 2003; 72:191-199. 
  3. Coebergh JA, Fransen van de Putte DE, Snoeck IN, Ruivenkamp C, van Haeringen A, Smit LM. A new variable phenotype in spinocerebellar ataxia 27 (SCA 27) caused by a deletion in the FGF14 gene. Eur J Paediatr Neurol 2014; 18:413-415.
  4. Brusse E, de Koning I, Maat-Kievit A, Oostra BA, Heutink P, van Swieten JC. Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype. Mov Disord 2006; 21:396-401.
  5. Choquet K, La Piana R, Brais B. A novel frameshift mutation in FGF14 causes an autosomal dominant episodic ataxia. Neurogenetics 2015; 16:233-236.
  6. And 4 more. Subscribe to see the full list

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