Hereditary spastic paraplegia type 52 (SPG52)

Evidence-based neurology checklist on hereditary spastic paraplegia type 52 (spg52): Genetics This is caused by mutations in the AP4S1 gene on chromosome 14q The transmission is autosomal recessive Dysmorphic features Clinical features Magnetic resonance imaging (MRI) brain: features

Genetics

  • This is caused by mutations in the AP4S1 gene on chromosome 14q
  • The transmission is autosomal recessive

Dysmorphic features

Clinical features

Magnetic resonance imaging (MRI) brain: features

References

  1. Hardies K, May P, Djémié T, Tarta-Arsene O, et al. Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly. Hum Mol Genet 2015; 24:2218-2227. 
  2. Abou Jamra R, Philippe O, Raas-Rothschild A, et al. Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. Am J Hum Genet 2011; 88:788-795.
  3. 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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