Hereditary spastic paraplegia type 7 (SPG7)

Evidence-based neurology checklist on hereditary spastic paraplegia type 7 (spg7): Genetic This is caused by mutations in the paraplegin gene on chromosome 16q The transmission is autosomal recessive It is associated with mitochondrial respiratory chain deficiency Clinical features Skeletal…

Genetic

  • This is caused by mutations in the paraplegin gene on chromosome 16q
  • The transmission is autosomal recessive
  • It is associated with mitochondrial respiratory chain deficiency

Clinical features

Skeletal features

Magnetic resonance imaging (MRI) brain: features

References

  1. Kara E, Tucci A, Manzoni C, et al. Genetic and phenotypic characterization of complex hereditary spastic paraplegia. Brain 2016; 139:1904-1918. 
  2. Klebe S, Depienne C, Gerber S, et al. Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy. Brain 2012; 135:2980-2993.  
  3. De Michele G, De Fusco M, Cavalcanti F, et al. A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3. Am J Hum Genet 1998; 63:135-139.
  4. Casari G, De Fusco M, Ciarmatori S, et al. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell 1998; 93:973-983.
  5. Zhang L, McFarland KN, Subramony SH, Heilman KM, Ashizawa T. SPG7 and impaired emotional communication. Cerebellum 2017; 16:595-598.
  6. And 2 more. Subscribe to see the full list

Related checklists

Loading...