Hereditary spastic paraplegia type 82 (SPG82)

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

Hereditary spastic paraplegia type 82 (SPG82). This is caused by mutations in the PCYT2 gene. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the PCYT2 gene
  • The gene is on chromosome 17
  • The mutation results in impaired ether lipid biosynthesis
  • The transmission is autosomal recessive
  • It is a complex HSP

Neurological features

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Skeletal features

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Ophthalmic features

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Magnetic resonance imaging (MRI) brain

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References

  1. Vaz FM, McDermott JH, Alders M, et al. Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia. Brain 2019; 142:3382-3397. 
  2. Kaiyrzhanov R, Wortmann S, Reid T, et al. Defective phosphatidylethanolamine biosynthesis leads to a broad ataxia-spasticity spectrum. Brain 2021; 144:e30.

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