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Results 1 - 10 of 23 for Spastic ataxia 3
  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 on ...
    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/s10048-004-0179- ...
    https://medlineplus.gov/...ive-spastic-ataxia-of-charlevoix-saguenay - Genetics
  3. POLR3A gene 
    ... 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 1;141(3):e21. doi: 10.1093/brain/awx329. Citation on ...
    https://medlineplus.gov/genetics/gene/polr3a - Genetics
  4. Arginase deficiency 
    ... usually becomes evident by about the age of 3. It most often appears as stiffness, ... (ataxia). Occasionally, high-protein meals or stress caused by ...
    https://medlineplus.gov/genetics/condition/arginase-deficiency - Genetics
  5. Spastic paraplegia type 5A 
    ... 1252-7. doi: 10.1007/s00415-009-5109-3. Epub 2009 Apr 12. Citation on PubMed ... diagnosis of ataxias and spastic paraplegias. Eur J Neurol. 2010 Feb;17(2): ...
    https://medlineplus.gov/.../condition/spastic-paraplegia-type-5a - Genetics
  6. 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
  7. 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
  8. Spastic paraplegia type 7 
    ... some muscle weakness. People with this form of spastic paraplegia can also have ataxia; a pattern of movement abnormalities known as parkinsonism; ... homeostasis and neurodegeneration. Cell Res. 2018 Mar;28(3):296-306. doi: ... a common cause of undiagnosed ataxia. Neurology. 2015 May 5;84(18):1911. doi: ...
    https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-7 - Genetics
  9. Free sialic acid storage disorder 
    ... and symptoms include problems with movement and balance (ataxia); abnormal tensing of the muscles (spasticity); and involuntary slow, writhing movements of the limbs ( ...
    https://medlineplus.gov/.../free-sialic-acid-storage-disorder - Genetics
  10. Transthyretin amyloidosis 
    ... fluid in the brain (hydrocephalus), difficulty coordinating movements (ataxia), muscle stiffness and weakness (spastic paralysis), seizures, and loss of intellectual function (dementia). ...
    https://medlineplus.gov/genetics/condition/transthyretin-amyloidosis - Genetics
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