Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 10 of 14 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. Troyer syndrome 
    ... not show signs and symptoms of the condition. Autosomal recessive spastic paraplegia type 20 Spastic paraparesis, childhood-onset, with distal muscle wasting Spastic paraplegia 20, autosomal recessive Spastic paraplegia, autosomal recessive, Troyer type SPG20 Genetic Testing ...
    https://medlineplus.gov/genetics/condition/troyer-syndrome - 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. ...
    https://medlineplus.gov/genetics/gene/polr3a - Genetics
  6. Spastic paraplegia type 7 
    ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE; SPG7 PubMed Atorino L, Silvestri L, Koppen M, ...
    https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-7 - Genetics
  7. 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
  8. 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
  9. 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
  10. 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
previous · 1 · 2 · next