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Results 1 - 10 of 12 for Spastic ataxia 4
  1. Autosomal recessive spastic ataxia of Charlevoix-Saguenay 
    ... 20. Citation on PubMed Takiyama Y. Autosomal recessive spastic ataxia of Charlevoix-Saguenay. Neuropathology. 2006 Aug;26(4):368-75. doi: 10.1111/j.1440-1789. ...
    https://medlineplus.gov/...ive-spastic-ataxia-of-charlevoix-saguenay - Genetics
  2. 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
  3. Spastic paraplegia type 5A 
    ... EFNS. EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. Eur J Neurol. 2010 Feb;17(2): ... and genetic analysis of Taiwanese patients with hereditary spastic paraplegia type 5. Eur J Neurol. 2015 Jan;22(1):211-4. doi: 10.1111/ene.12407. Epub 2014 Mar ...
    https://medlineplus.gov/.../condition/spastic-paraplegia-type-5a - Genetics
  4. 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; ... and increased sensitivity to oxidative stress in hereditary spastic paraplegia. J Cell Biol. 2003 Nov 24;163(4):777-87. doi: 10.1083/jcb.200304112. Epub ...
    https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-7 - Genetics
  5. 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
  6. Troyer syndrome 
    ... CA. Developmental and degenerative features in a complicated spastic paraplegia. Ann Neurol. 2010 Apr;67(4):516-25. doi: 10.1002/ana.21923. Citation ... SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. Nat Genet. 2002 Aug;31(4):347-8. doi: 10.1038/ng937. Epub 2002 ...
    https://medlineplus.gov/genetics/condition/troyer-syndrome - Genetics
  7. 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
  8. Fatty acid hydroxylase-associated neurodegeneration 
    ... of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35). Hum Mutat. 2010 Apr;31(4):E1251-60. doi: 10.1002/humu.21205. Citation on PubMed Edvardson S, Hama H, Shaag A, Gomori JM, Berger I, ... with leukodystrophy with spastic paraparesis and dystonia. Am J Hum Genet. 2008 ...
    https://medlineplus.gov/...-hydroxylase-associated-neurodegeneration - Genetics
  9. Ornithine translocase deficiency 
    ... have episodes of vomiting, lethargy, problems with coordination (ataxia), ... (spasticity). Affected individuals may have chronic liver problems and ...
    https://medlineplus.gov/.../ornithine-translocase-deficiency - Genetics
  10. Purine nucleoside phosphorylase deficiency 
    ... Purine nucleoside phosphorylase deficiency in a patient with spastic ... Immunol Res. 2013 May;56(1):150-4. doi: 10.1007/s12026-012-8380-9. Citation ...
    https://medlineplus.gov/...urine-nucleoside-phosphorylase-deficiency - Genetics
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