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Results 1 - 6 of 6 for Hereditary spastic paraplegia 31
  1. REEP1 gene 
    ... Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31. Am J Hum Genet. 2006 Aug;79(2): ...
    https://medlineplus.gov/genetics/gene/reep1 - Genetics
  2. SPART gene 
    ... AH. SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. Nat Genet. 2002 Aug;31(4):347-8. doi: 10.1038/ng937. Epub 2002 Jul 22. Citation on PubMed Robay D, Patel H, Simpson MA, Brown ... paraplegia, has a complex subcellular localization suggesting diverse roles ...
    https://medlineplus.gov/genetics/gene/spart - Genetics
  3. FA2H gene 
    ... Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35). Hum Mutat. 2010 Apr;31(4):E1251-60. doi: 10.1002/humu.21205. ...
    https://medlineplus.gov/genetics/gene/fa2h - Genetics
  4. CYP7B1 gene 
    ... Bassi MT. Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations. Clin Genet. 2012 Feb;81(2):150-7. doi: 10.1111/j.1399-0004.2011.01624.x. Epub 2011 Jan 31. Citation on PubMed Goizet C, Boukhris A, Durr ...
    https://medlineplus.gov/genetics/gene/cyp7b1 - Genetics
  5. ALDH18A1 gene 
    ... of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. Brain. 2015 Aug;138(Pt 8):2191-205. ...
    https://medlineplus.gov/genetics/gene/aldh18a1 - Genetics
  6. OPA3 gene 
    ... Inherited Optic Neuropathies. In Vivo. 2017 Jul-Aug;31(4):511-525. doi: 10.21873/invivo.11090. ... in 304 Chinese Patients with Suspected Childhood-Onset Hereditary Optic Neuropathy. PLoS One. 2017 Jan 12;12( ...
    https://medlineplus.gov/genetics/gene/opa3 - Genetics