Hereditary spastic paraplegia type 35 (SPG35)

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

Hereditary spastic paraplegia type 35 (SPG35). This is caused by mutations in the FA2H gene on chromosome 16q. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the FA2H gene on chromosome 16q
  • The transmission is autosomal recessive
  • The onset age is 5-22 years

Clinical features

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Ophthalmic features

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Magnetic resonance imaging (MRI) brain: features

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References

  1. Kara E, Tucci A, Manzoni C, et al. Genetic and phenotypic characterization of complex hereditary spastic paraplegia. Brain 2016; 139:1904-1918. 
  2. Dick KJ, Al-Mjeni R, Baskir W, et al. A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23. Neurology 2008; 71:248-252.
  3. Rattay TW, Lindig T, Baets J, et al. FAHN/SPG35: a narrow phenotypic spectrum across disease classifications. Brain 2019; 142:1561-1572.

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