Hereditary spastic paraplegia type 76 (SPG76)

Evidence-based neurology checklist on hereditary spastic paraplegia type 76 (spg76): Genetics This is caused by mutations in the Calpain 1 (CAPN1) gene on chromosome 11q The transmission is autosomal recessive The onset age is between 19-39 years Clinical features Magnetic resonance imaging (MRI)…

Genetics

  • This is caused by mutations in the Calpain 1 (CAPN1) gene on chromosome 11q
  • The transmission is autosomal recessive
  • The onset age is between 19-39 years

Clinical features

Magnetic resonance imaging (MRI) brain

References

  1. Gan-Or Z, Bouslam N, Birouk N, et al. Mutations in CAPN1 cause autosomal-recessive hereditary spastic paraplegia. Am J Hum Genet 2016; 98:1038-1046.
  2. Alkhalifa A, Chen S, Hasiloglu ZI, et al. White matter abnormalities in 15 subjects with SPG76. J Neurol 2023; 270:5784-5792.

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