Hereditary spastic paraplegia type 40 (SPG40)

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

Hereditary spastic paraplegia type 40 (SPG40). This is caused by mutations in chromosome 4q. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in chromosome 4q
  • The transmission is autosomal dominant
  • It may demonstrate genetic anticipation
  • It presents as a pure HSP phenotype
  • The onset age is in adulthood: it is usually >35 years

Clinical features

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References

  1. Subramony SH, Nguyen TV, Langford L, Lin X, Parent AD, Zhang J. Identification of a new form of autosomal dominant spastic paraplegia. Clin Genet 2009; 76:113-116. 

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