Spinocerebellar ataxia type 27A (SCA27A)

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Spinocerebellar ataxia type 27A (SCA27A). This is caused by mutations in the fibroblast growth factor 14 (FGF14) gene.

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

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Tremor features

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Other associated neurological features

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Psychiatric features

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Peripheral features

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Differential diagnosis

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Treatment of tremor

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Investigations

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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.
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