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Results 1 - 10 of 29 for Spastic ataxia 5
  1. SACS gene 
    ... 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 
    ... 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. SPG7 gene 
    ... DF. Genomic structure and expression analysis of the spastic paraplegia gene, SPG7. Hum Genet. 1999 Jul-Aug;105(1-2):139-44. doi: 10.1007/s004399900087. Citation on PubMed SPG7 mutations are a common cause of undiagnosed ataxia. Neurology. 2015 May 5;84(18):1911. doi: 10.1212/WNL.0000000000001628. ...
    https://medlineplus.gov/genetics/gene/spg7 - Genetics
  4. Spastic paraplegia type 2 
    ... additional features. People with the complex form of spastic paraplegia type 2 ... the ages of 1 and 5 years; those affected are typically able to walk ...
    https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-2 - Genetics
  5. Spastic paraplegia type 7 
    ... SPG7 mutations are a common cause of undiagnosed ataxia. Neurology. 2015 May ... mutations in hereditary spastic paraplegia. Brain. 2004 May;127(Pt 5):973- ...
    https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-7 - Genetics
  6. POLR3A gene 
    ... 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
  7. Spastic paraplegia type 5A 
    ... MT. Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations. Clin Genet. 2012 Feb; ... mutations in pure and complex forms of hereditary spastic paraplegia type 5. Brain. 2009 Jun;132(Pt 6):1589-600. ...
    https://medlineplus.gov/.../condition/spastic-paraplegia-type-5a - Genetics
  8. Andermann syndrome 
    ... 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 
    ... as stiffness caused by abnormal tensing of the muscles (spasticity), difficulty in coordinating movements (ataxia), and speech difficulties (dysarthria). Some experience episodes of ...
    https://medlineplus.gov/genetics/condition/glut1-deficiency-syndrome - Genetics
  10. Fatty acid hydroxylase-associated neurodegeneration 
    ... neurodegeneration with brain iron accumulation, leukodystrophies, and hereditary spastic paraplegias. Ann Neurol. 2010 Nov;68(5):575-7. doi: 10.1002/ana.22211. No ...
    https://medlineplus.gov/...-hydroxylase-associated-neurodegeneration - Genetics
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