Spinocerebellar ataxia type 46 (SCA46)

Evidence-based neurology checklist on spinocerebellar ataxia type 46 (sca46): Genetics This is caused by mutations in the PLD3 gene on chromosome 19 The gene encodes phospholipid D3 The transmission is autosomal dominant The onset is between the fifth and seventh decades Clinical features…

Genetics

  • This is caused by mutations in the PLD3 gene on chromosome 19
  • The gene encodes phospholipid D3
  • The transmission is autosomal dominant
  • The onset is between the fifth and seventh decades

Clinical features

Differential diagnosis

Magnetic resonance imaging (MRI) brain

References

  1. van Dijk GW, Wokke JH, Oey PL, Franssen H, Ippel PF, Veldman H. A new variant of sensory ataxic neuropathy with autosomal dominant inheritance. Brain 1995; 118:1557-1563. 
  2. 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.
  3. Sowmini PR, Yellaturi S,Velayutham SS, Krishnan M. Spinocerebellar ataxia 46 in a young female. J Neurosci Rural Pract 2023; 14:747-749.

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