Hereditary spastic paraplegia type 21 (SPG21)

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

Hereditary spastic paraplegia type 21 (SPG21). This is caused by mutations in the ACP33 gene on chromosome 15q. Fully referenced neurology checklist.

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

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Psychiatric features

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Magnetic resonance imaging (MRI) brain: features

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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. 

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