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Results 1 - 10 of 19 for Spastic ataxia "10," autosomal recessive
  1. Autosomal recessive spastic ataxia of Charlevoix-Saguenay 
    ... Neurol. 2018 Sep;265(9):2060-2070. doi: 10.1007/s00415-018-8950-4. Epub 2018 Jul 2. Citation on PubMed
    https://medlineplus.gov/...ive-spastic-ataxia-of-charlevoix-saguenay - Genetics
  2. SACS gene 
    ... Test. 2001 Fall;5(3):255-9. doi: 10.1089/10906570152742326. Citation on PubMed Takiyama Y. Autosomal recessive spastic ataxia of Charlevoix-Saguenay. Neuropathology. 2006 Aug;26(4): ...
    https://medlineplus.gov/genetics/gene/sacs - Genetics
  3. POLR3A gene 
    ... POLR3A are a frequent cause of sporadic and recessive spastic ataxia. Brain. 2017 Jun 1;140(6):1561-1578. doi: 10.1093/brain/awx095. Erratum In: Brain. 2018 Mar ...
    https://medlineplus.gov/genetics/gene/polr3a - Genetics
  4. Troyer syndrome 
    ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov ... neuron disease? J Neurol. 1999 Jul;246(7):556-61. doi: 10.1007/s004150050403. Citation on PubMed Bakowska JC, Jupille ...
    https://medlineplus.gov/genetics/condition/troyer-syndrome - Genetics
  5. Fatty acid hydroxylase-associated neurodegeneration 
    ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov ... unifying theories. Neuropathol Appl Neurobiol. 2016 Apr;42(3):220-41. doi: 10.1111/nan.12242. Epub 2015 Jun 2. Citation ...
    https://medlineplus.gov/...-hydroxylase-associated-neurodegeneration - Genetics
  6. Spastic paraplegia type 5A 
    ... Rare Disorders (NORD) ClinicalTrials.gov ... type 5 associated with CYP7B1 mutations. Clin Genet. 2012 Feb;81(2):150-7. doi: 10.1111/j.1399-0004.2011.01624.x. Epub ...
    https://medlineplus.gov/.../condition/spastic-paraplegia-type-5a - Genetics
  7. Spastic paraplegia type 7 
    ... Rare Disorders (NORD) ClinicalTrials.gov ... in hereditary spastic paraplegia. J Cell Biol. 2003 Nov 24;163(4):777-87. doi: 10.1083/jcb.200304112. Epub 2003 Nov 17. Citation ...
    https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-7 - Genetics
  8. SPG7 gene 
    ... MGC126332 paraplegin, isoform 1 PGN spastic paraplegia 7 spastic paraplegia 7 (pure and complicated autosomal recessive) SPG5C SPG7_HUMAN Tests of SPG7 PubMed SPG7 ...
    https://medlineplus.gov/genetics/gene/spg7 - Genetics
  9. GLUT1 deficiency syndrome 
    ... MF, Kamsteeg EJ, Leferink M, Ben-Omran T. Autosomal recessive inheritance of GLUT1 deficiency syndrome. Neuropediatrics. 2009 Oct;40(5):207-10. doi: 10.1055/s-0030-1248264. Epub 2010 ...
    https://medlineplus.gov/genetics/condition/glut1-deficiency-syndrome - Genetics
  10. Costeff syndrome 
    ... 3-methylglutaconic aciduria type III Autosomal recessive OPA3 Autosomal recessive optic atrophy 3 Costeff optic atrophy syndrome Infantile optic atrophy with chorea and spastic paraplegia Iraqi Jewish optic atrophy plus MGA, type ...
    https://medlineplus.gov/genetics/condition/costeff-syndrome - Genetics
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