Hereditary spastic paraplegia type 85 (SPG85)

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

Hereditary spastic paraplegia type 85 (SPG85). This is caused by mutations in the RNF170 gene. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the RNF170 gene
  • The gene is on chromosome 8
  • The transmission is autosomal recessive
  • The onset age is in childhood

Neurological features

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Ophthalmic features

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Magnetic resonance imaging (MRI) brain

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References

  1. Wagner M, Osborn DPS, Gehweiler I, et al. Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia. Nat Commun 2019; 10:4790. 

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