Spinocerebellar ataxia type 44 (SCA44)

Evidence-based neurology checklist on spinocerebellar ataxia type 44 (sca44): 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 Magnetic resonance imaging…

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

Magnetic resonance imaging (MRI) brain

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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