Hereditary spastic paraplegia type 50 (SPG50)

Evidence-based neurology checklist on hereditary spastic paraplegia type 50 (spg50): Genetics This is caused by mutations in the AP4M1 gene on chromosome 7q The presentation is autosomal recessive Dysmorphic features Clinical features Pseudobulbar features Peripheral features Differential…

Genetics

  • This is caused by mutations in the AP4M1 gene on chromosome 7q
  • The presentation is autosomal recessive

Dysmorphic features

Clinical features

Pseudobulbar features

Peripheral features

Differential diagnosis

Magnetic resonance imaging (MRI) brain: features

References

  1. Verkerk AJ, Schot R, Dumee B, et al. Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy. Am J Hum Genet 2009; 85:40-52. 
  2. 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.
  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.
  4. And 0 more. Subscribe to see the full list

Related checklists

Loading...