Hereditary spastic paraplegia type 84 (SPG84)

Evidence-based neurology checklist on hereditary spastic paraplegia type 84 (spg84): Genetics This is caused by mutations in the PI4K gene The gene is on chromosome 22 The transmission is autosomal recessive Neurological features Magnetic resonance imaging (MRI) brain

Genetics

  • This is caused by mutations in the PI4K gene
  • The gene is on chromosome 22
  • The transmission is autosomal recessive

Neurological features

Magnetic resonance imaging (MRI) brain

References

  1. Verdura E, Rodríguez-Palmero A, Vélez-Santamaria V, et al. Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy. Brain 2021; 144:2659-2669. 

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