Spinocerebellar ataxia type 44 (SCA44)

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

Spinocerebellar ataxia type 44 (SCA44). This is caused by mutations in the GRM1 gene on chromosome 6. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the GRM1 gene on chromosome 6
  • The gene encodes mGluR1
  • The transmission is autosomal dominant
  • The onset is in the third to sixth decades

Clinical features

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Magnetic resonance imaging (MRI) brain

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References

  1. Watson LM, Bamber E, Schnekenberg RP, et al. Dominant mutations in GRM1 cause spinocerebellar ataxia type 44. Am J Hum Genet 2017; 101:451-458. 

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