Hereditary spastic paraplegia type 73 (SPG73)

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

Hereditary spastic paraplegia type 73 (SPG73). This is caused by mutations in the CPT1C on chromosome 19q. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the CPT1C on chromosome 19q
  • The transmission is autosomal dominant
  • It usually presents as pure HSP
  • The mean onset age is 36 years

Clinical features

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Magnetic resonance imaging (MRI) brain

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References

  1. Rinaldi C, Schmidt T, Situ AJ, et al. Mutation in CPT1C associated with pure autosomal dominant spastic paraplegia. JAMA Neurol 2015; 72:561-570. 

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