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Results 1 - 10 of 14 for Spastic ataxia "5," autosomal recessive
  1. SACS gene 
    ... A. Rapid detection of the sacsin mutations causing autosomal recessive spastic ataxia of Charlevoix-Saguenay. Genet Test. 2001 Fall;5(3):255-9. doi: 10.1089/10906570152742326. Citation ...
    https://medlineplus.gov/genetics/gene/sacs - Genetics
  2. Autosomal recessive spastic ataxia of Charlevoix-Saguenay 
    ... Poisson VC, Topaloglu H. Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey. Neurogenetics. 2004 Sep;5(3):165-70. doi: 10.1007/s10048-004- ...
    https://medlineplus.gov/...ive-spastic-ataxia-of-charlevoix-saguenay - Genetics
  3. Spastic paraplegia type 5A 
    ... Rare Disorders (NORD) ClinicalTrials.gov ... phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations. Clin Genet. 2012 Feb; ...
    https://medlineplus.gov/.../condition/spastic-paraplegia-type-5a - Genetics
  4. 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
  5. POLR3A gene 
    ... POLR3A are a frequent cause of sporadic and recessive spastic ataxia. Brain. 2017 Jun 1;140(6):1561-1578. ... POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy. Am J Hum Genet. 2011 Nov 11;89(5):644-51. doi: 10.1016/j.ajhg.2011. ...
    https://medlineplus.gov/genetics/gene/polr3a - Genetics
  6. Spastic paraplegia type 7 
    ... spastic paraplegia National Organization for Rare Disorders (NORD) SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE; SPG7 PubMed Atorino L, Silvestri L, Koppen M, ...
    https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-7 - Genetics
  7. Fatty acid hydroxylase-associated neurodegeneration 
    ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE, WITH OR WITHOUT NEURODEGENERATION; SPG35 PubMed Arber CE, ...
    https://medlineplus.gov/...-hydroxylase-associated-neurodegeneration - Genetics
  8. 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. ...
    https://medlineplus.gov/genetics/condition/glut1-deficiency-syndrome - Genetics
  9. 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
  10. Andermann syndrome 
    ... syndrome. SLC12A6 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ... variants. The parents of an individual with an autosomal recessive condition each carry one copy of the altered ...
    https://medlineplus.gov/genetics/condition/andermann-syndrome - Genetics
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