Hereditary spastic paraplegia type 84 (SPG84)

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Hereditary spastic paraplegia type 84 (SPG84). This is caused by mutations in the PI4K gene. Fully referenced neurology checklist.

Genetics

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

Neurological features

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Magnetic resonance imaging (MRI) brain

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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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