Hereditary spastic paraplegia type 49 (SPG49)

Evidence-based neurology checklist on hereditary spastic paraplegia type 49 (spg49): Genetics This is caused by mutations in the TECPR2 on chromosome 14q The transmission is autosomal recessive The onset is in the second year of life Dysmorphic features Clinical features Systemic features Magnetic…

Genetics

  • This is caused by mutations in the TECPR2 on chromosome 14q
  • The transmission is autosomal recessive
  • The onset is in the second year of life

Dysmorphic features

Clinical features

Systemic features

Magnetic resonance imaging (MRI) brain: features

References

  1. Oz-Levi D, Ben-Zeev B, Ruzzo EK, et al. Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis. Am J Hum Genet 2012; 91:1065-1072. 

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