Hereditary spastic paraplegia type 60 (SPG60)

Evidence-based neurology checklist on hereditary spastic paraplegia type 60 (spg60): Genetics This is caused by mutations in the WDR48 gene on chromosome 3p The transmission is autosomal recessive This is in a single subject The onset age is 1 year Clinical features Magnetic resonance imaging…

Genetics

  • This is caused by mutations in the WDR48 gene on chromosome 3p
  • The transmission is autosomal recessive
  • This is in a single subject
  • The onset age is 1 year

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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