Hereditary spastic paraplegia type 40 (SPG40)

Evidence-based neurology checklist on hereditary spastic paraplegia type 40 (spg40): 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…

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

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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