Hereditary spastic paraplegia type 58 (SPG58)

Evidence-based neurology checklist on hereditary spastic paraplegia type 58 (spg58): Genetics This is caused by mutations in the KIF1C gene on chromosome 17p The transmission is autosomal recessive (severe) or dominant (mild) Clinical features Magnetic resonance imaging (MRI) brain: features Nerve…

Genetics

  • This is caused by mutations in the KIF1C gene on chromosome 17p
  • The transmission is autosomal recessive (severe) or dominant (mild)

Clinical features

Magnetic resonance imaging (MRI) brain: features

Nerve conduction studies (NCS)

References

  1. Caballero Oteyza A, Battaloğlu E, Ocek L, et al. Motor protein mutations cause a new form of hereditary spastic paraplegia. Neurology 2014; 82:2007-2016. 
  2. Dor T, Cinnamon Y, Raymond L, et al. KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction. J Med Genet 2014; 51:137-142.

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