Hereditary spastic paraplegia type 51 (SPG51)

Evidence-based neurology checklist on hereditary spastic paraplegia type 51 (spg51): Genetics This is caused by mutations in the AP4E1 gene on chromosome 15q The transmission is autosomal recessive Clinical features Magnetic resonance imaging (MRI) brain: features

Genetics

  • This is caused by mutations in the AP4E1 gene on chromosome 15q
  • The transmission is autosomal recessive

Clinical features

Magnetic resonance imaging (MRI) brain: features

References

  1. Moreno-De-Luca A, Helmers SL, Mao H, et al. Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability. J Med Genet 2011; 48:141-144. 
  2. Ebrahimi-Fakhari D, Alecu JE, Ziegler M, et al. Systematic analysis of brain MRI findings in adaptor protein complex 4-associated hereditary spastic paraplegia. Neurology 2021; 97:e1942-e1954.

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