Hereditary spastic paraplegia type 76 (SPG76)

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

Hereditary spastic paraplegia type 76 (SPG76). This is caused by mutations in the Calpain 1 (CAPN1) gene on chromosome 11q.

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

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Magnetic resonance imaging (MRI) brain

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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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