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Results 1 - 10 of 13 for Spastic ataxia "9," autosomal recessive
  1. Autosomal recessive spastic ataxia of Charlevoix-Saguenay 
    ... Charlevoix-Saguenay (ARSACS). J 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 
    ... Saguenay. Genet 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. 2017 Dec 9;: Citation on PubMed Paolacci S, Li Y, Agolini ...
    https://medlineplus.gov/genetics/gene/polr3a - 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. 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
  6. 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
  7. Andermann syndrome 
    ... peripheral nervous system. Mod Pathol. 2016 Sep;29(9):962-76. doi: 10.1038/modpathol.2016.90. Epub 2016 May 27. Citation on PubMed Dupre N, Bouchard JP, Brais B, Rouleau GA. Hereditary ataxia, spastic paraparesis and neuropathy in the French-Canadian population. ...
    https://medlineplus.gov/genetics/condition/andermann-syndrome - Genetics
  8. GLUT1 deficiency syndrome 
    ... families, GLUT1 deficiency syndrome 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/glut1-deficiency-syndrome - Genetics
  9. Purine nucleoside phosphorylase deficiency 
    ... deficiency. PNP This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ...
    https://medlineplus.gov/...urine-nucleoside-phosphorylase-deficiency - Genetics
  10. Isolated sulfite oxidase deficiency 
    ... form. SUOX This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ...
    https://medlineplus.gov/.../isolated-sulfite-oxidase-deficiency - Genetics
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