Spinocerebellar ataxia type 45 (SCA45)

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

Spinocerebellar ataxia type 45 (SCA45). This is caused by mutations in the FAT2 gene on chromosome 5. Fully referenced neurology checklist.

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

Locked: subscribe to see this section.

Magnetic resonance imaging (MRI) brain

Locked: subscribe to see this section.

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.

Related checklists

Loading...