Hereditary spastic paraplegia type 64 (SPG64)

Evidence-based neurology checklist on hereditary spastic paraplegia type 64 (spg64): Genetics This is caused by mutations in the ENTPD1 gene on chromosome 10q The transmission is autosomal recessive The onset age is 1 to 4 years Clinical features Magnetic resonance imaging (MRI) brain

Genetics

  • This is caused by mutations in the ENTPD1 gene on chromosome 10q
  • The transmission is autosomal recessive
  • The onset age is 1 to 4 years

Clinical features

Magnetic resonance imaging (MRI) brain

References

  1. Novarino G, Fenstermaker AG, Zaki MS, et al. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science 2014; 343:506-511. 
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