Hereditary spastic paraplegia type 21 (SPG21)

Evidence-based neurology checklist on hereditary spastic paraplegia type 21 (spg21): Genetics This is caused by mutations in the ACP33 gene on chromosome 15q The transmission is autosomal recessive The gene codes for Maspradin Neurological features Psychiatric features Magnetic resonance imaging…

Genetics

  • This is caused by mutations in the ACP33 gene on chromosome 15q
  • The transmission is autosomal recessive
  • The gene codes for Maspradin

Neurological features

Psychiatric features

Magnetic resonance imaging (MRI) brain: features

References

  1. Simpson MA, Cross H, Proukakis C, et al. Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia. Am J Hum Genet 2003; 73:1147-1156. 
  2. Ishiura H, Takahashi Y, Hayashi T, et al. Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses. J Hum Genet 2014; 59:163-172. 
  3. And 0 more. Subscribe to see the full list

Related checklists

Loading...