Hereditary spastic paraplegia type 60 (SPG60)

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

Hereditary spastic paraplegia type 60 (SPG60). This is caused by mutations in the WDR48 gene on chromosome 3p. Fully referenced neurology checklist.

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

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Magnetic resonance imaging (MRI) brain

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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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