Spinocerebellar ataxia type 45 (SCA45)

Evidence-based neurology checklist on spinocerebellar ataxia type 45 (sca45): Genetics This is caused by mutations in the FAT2 gene on chromosome 5 The transmission is autosomal dominant The onset is in the fifth and sixth decades It may manifest as pure cerebellar ataxia Clinical features…

Genetics

  • This is caused by mutations in the FAT2 gene on chromosome 5
  • The transmission is autosomal dominant
  • The onset is in the fifth and sixth decades
  • It may manifest as pure cerebellar ataxia

Clinical features

Magnetic resonance imaging (MRI) brain

References

  1. Nibbeling EAR, Duarri A, Verschuuren-Bemelmans CC, et al. Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia. Brain 2017; 140:2860-2878.
  2. Ganguly J, Mukherjee S, Basu P, et al. Think of SCA45 in late-onset familial ataxias: the first report from the indian subcontinent with a novel variant. Mov Disord Clin Pract 2022; 9:1140-1143. 
  3. Tonholo Silva TY, Rosa ABR, Quaio CR, Verbeek D, Pedroso JL, Barsottini O. Does SCA45 cause very late-onset pure cerebellar ataxia? Neurol Genet 2021; 7:e581.

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