Hereditary spastic paraplegia type 34 (SPG34)

Evidence-based neurology checklist on hereditary spastic paraplegia type 34 (spg34): Genetics This is caused by mutations in chromosome Xq The transmission is X-linked The onset is in childhood or early adulthood It is usually a pure HSP presentation Clinical features

Genetics

  • This is caused by mutations in chromosome Xq
  • The transmission is X-linked
  • The onset is in childhood or early adulthood
  • It is usually a pure HSP presentation

Clinical features

References

  1. Macedo-Souza LI, Kok F, Santos S, et al. Reevaluation of a large family defines a new locus for X-linked recessive pure spastic paraplegia (SPG34) on chromosome Xq25. Neurogenetics 2008; 9:225-226. 
  2. Zatz M, Penha-Serrano C, Otto PA. X-linked recessive type of pure spastic paraplegia in a large pedigree: absence of detectable linkage with Xg. J Med Genet 1976; 13:217-222.

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