Hereditary spastic paraplegia type 69 (SPG69)

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

Hereditary spastic paraplegia type 69 (SPG69). This is caused by mutations in the RAB3GAP2 gene on chromosome 1q. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the RAB3GAP2 gene on chromosome 1q
  • The transmission is autosomal recessive

Related gene disorders

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Clinical features

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References

  1. Lo Giudice T, Lombardi F, Santorelli FM, Kawarai T, Orlacchio A. Hereditary spastic paraplegia: clinical-genetic characteristics and evolving molecular mechanisms. Exp Neurol 2014; 261:518-539. 

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