Hereditary spastic paraplegia type 47 (SPG47)

Evidence-based neurology checklist on hereditary spastic paraplegia type 47 (spg47): Genetics This is caused by mutations in the AP4B1 gene on chromosome 1p The transmission is autosomal recessive Dysmorphic features Spasticity features Developmental features Skeletal features Other features…

Genetics

  • This is caused by mutations in the AP4B1 gene on chromosome 1p
  • The transmission is autosomal recessive

Dysmorphic features

Spasticity features

Developmental features

Skeletal features

Other features

Magnetic resonance imaging (MRI) brain: features

References

  1. 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. 
  2. Leonardi L, Ziccardi L, Marcotulli C, et al. Pigmentary degenerative maculopathy as prominent phenotype in an Italian SPG56/CYP2U1 family. J Neurol 2016; 263:781-783. 
  3. Bauer P, Leshinsky-Silver E, Blumkin L, et al. Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47). Neurogenetics 2012; 13:73-76. 
  4. Tüysüz B, Bilguvar K, Koçer N, et al. Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: expansion of the facial and neuroimaging features. Am J Med Genet A 2014; 164A:1677-1685. 
  5. 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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