Hereditary spastic paraplegia type 81 (SPG81)

Evidence-based neurology checklist on hereditary spastic paraplegia type 81 (spg81): Genetics This is caused by mutations in the SELENOI (EPT1) gene The gene is on chromosome 2 The mutation results in impaired phosphatidylethanolmine biosynthesis The transmission is autosomal recessive It is a…

Genetics

  • This is caused by mutations in the SELENOI (EPT1) gene
  • The gene is on chromosome 2
  • The mutation results in impaired phosphatidylethanolmine biosynthesis
  • The transmission is autosomal recessive
  • It is a complex HSP
  • The onset age is from infancy to adolescence

Neurological features

Ophthalmic features

Skeletal features

Magnetic resonance imaging (MRI) brain

Other investigations

References

  1. Sarma AS, Siddardha B, T PL, Ranganath P, Dalal A. A novel homozygous synonymous splicing variant in SELENOI gene causes spastic paraplegia 81. J Gene Med 2023; 25:e3501.
  2. Horibata Y, Elpeleg O, Eran A, et al. EPT1 (selenoprotein I) is critical for the neural development and maintenance of plasmalogen in humans. J Lipid Res 2018; 59:1015-1026. 
  3. Ahmed MY, Al-Khayat A, Al-Murshedi F, et al. A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis. Brain 2017; 140:547-554.
  4. 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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