Hereditary spastic paraplegia type 49 (SPG49)

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

Hereditary spastic paraplegia type 49 (SPG49). This is caused by mutations in the TECPR2 on chromosome 14q. Fully referenced neurology checklist.

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

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Clinical features

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Systemic features

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Magnetic resonance imaging (MRI) brain: features

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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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