Spinocerebellar ataxia type 46 (SCA46)

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

Spinocerebellar ataxia type 46 (SCA46). This is caused by mutations in the PLD3 gene on chromosome 19. Fully referenced neurology checklist.

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

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Differential diagnosis

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Magnetic resonance imaging (MRI) brain

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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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