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Results 1 - 10 of 14 for Hereditary spastic paraplegia 12
  1. Spastic paraplegia type 31 
    ... of hereditary spastic paraplegias known as autosomal dominant hereditary spastic paraplegia, which has an estimated prevalence of one to 12 per 100,000 individuals. Spastic paraplegia type 31 ...
    https://medlineplus.gov/.../condition/spastic-paraplegia-type-31 - Genetics
  2. Spastic paraplegia type 5A 
    ... CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5. Brain. 2009 Jun;132(Pt 6):1589-600. doi: 10.1093/brain/awp073. Epub 2009 May 12. Citation on PubMed Lan MY, Yeh TH, Chang ...
    https://medlineplus.gov/.../condition/spastic-paraplegia-type-5a - Genetics
  3. C19orf12 gene 
    ... individuals are considered to have a condition called hereditary spastic paraplegia type 43. More About This Health Condition NBIA3 NBIA4 protein C19orf12 SPG43 Tests of C19orf12 PubMed CHROMOSOME 19 OPEN READING FRAME 12; C19ORF12 NCBI Gene ClinVar Deschauer M, Gaul C, ...
    https://medlineplus.gov/genetics/gene/c19orf12 - Genetics
  4. SPG11 gene 
    ... mutations are common in familial cases of complicated hereditary spastic paraplegia. Neurology. 2008 Apr 15;70(16 Pt 2):1384-9. doi: 10.1212/01.wnl.0000294327.66106.3d. Epub 2008 Mar 12. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/genetics/gene/spg11 - Genetics
  5. Spastic paraplegia type 11 
    ... mutations are common in familial cases of complicated hereditary spastic paraplegia. Neurology. 2008 Apr 15;70(16 Pt 2):1384-9. doi: 10.1212/01.wnl.0000294327.66106.3d. Epub 2008 Mar 12. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/.../condition/spastic-paraplegia-type-11 - Genetics
  6. CYP7B1 gene 
    ... CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5. Brain. 2009 Jun;132(Pt 6):1589-600. doi: 10.1093/brain/awp073. Epub 2009 May 12. Citation on PubMed Tsaousidou MK, Ouahchi K, Warner ...
    https://medlineplus.gov/genetics/gene/cyp7b1 - Genetics
  7. REEP1 gene 
    ... 12-22. doi: 10.1016/j.brainres.2013.12.008. Epub 2013 Dec 16. Citation on PubMed or Free article on PubMed Central Schlang KJ, Arning L, Epplen JT, Stemmler S. Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31). BMC ...
    https://medlineplus.gov/genetics/gene/reep1 - Genetics
  8. SPAST gene 
    ... mechanism. J Cell Biol. 2018 Dec 3;217(12):4057-4069. doi: ... hereditary spastic paraplegia protein spastin. Nature. 2008 Jan 17;451(7176): ...
    https://medlineplus.gov/genetics/gene/spast - Genetics
  9. L1 syndrome 
    L1 syndrome describes a group of conditions that primarily affect the nervous system and occur almost exclusively in males. These conditions vary in severity ...
    https://medlineplus.gov/genetics/condition/l1-syndrome - Genetics
  10. GJC2 gene 
    ... Lamantea E, Zeviani M, Scherer SS, Pareyson D. Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations. ...
    https://medlineplus.gov/genetics/gene/gjc2 - Genetics
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