Hereditary spastic paraplegia type 80 (SPG80)

Evidence-based neurology checklist on hereditary spastic paraplegia type 80 (spg80): Genetics This is caused by mutations in the UBAP1 gene The transmission is autosomal dominant The mutation may arise de novo It is a pure HSP The onset is in the juvenile age The median onset age is 10 years…

Genetics

  • This is caused by mutations in the UBAP1 gene
  • The transmission is autosomal dominant
  • The mutation may arise de novo
  • It is a pure HSP
  • The onset is in the juvenile age
  • The median onset age is 10 years

Clinical features

Magnetic resonance imaging (MRI) brain

References

  1. Nan H, Ichinose Y, Tanaka M, et al. UBAP1 mutations cause juvenile-onset hereditary spastic paraplegias (SPG80) and impair UBAP1 targeting to endosomes. J Hum Genet 2019; 64:1055-1065. 
  2. Lin X, Su HZ, Dong EL, et al. Stop-gain mutations in UBAP1 cause pure autosomal-dominant spastic paraplegia. Brain 2019; 142:2238-2252.
  3. Bourinaris T, Smedley D, Cipriani V, et al. Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project. Eur J Hum Genet 2020; 28:1763-1768.

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