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Results 1 - 10 of 28 for Spastic ataxia 1
  1. ... are a frequent cause of sporadic and recessive spastic ataxia. Brain. 2017 Jun 1;140(6):1561-1578. doi: 10.1093/brain/ ...
  2. ... Santorelli FM. Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type. Neurology. 2004 Jan 13;62(1):103-6. doi: 10.1212/01.wnl.0000104491. ...
  3. ... 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: ...
  4. ... additional features. People with the complex form of spastic paraplegia type 2 ... between the ages of 1 and 5 years; those affected are typically able ...
  5. ... MUTYH-associated polyposis Age-related macular degeneration Alpha-1 antitrypsin ... recessive spastic ataxia of Charlevoix-Saguenay , also called ARSACS Andermann syndrome , ...
  6. ... N, Bouchard JP, Brais B, Rouleau GA. Hereditary ataxia, spastic paraparesis ... callosum. Ann Neurol. 2003 Jul;54(1):9-18. doi: 10.1002/ana.77777. Citation ...
  7. Spinocerebellar Ataxias Including Machado-Joseph Disease From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Cerebellar Disorders/Specifics ... Cerebellar Disorders ... National Institute of Neurological Disorders and Stroke ... From the National Institutes of Health ... Spinocerebellar ...
  8. ... 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 ...
  9. ... fluid in the brain (hydrocephalus), difficulty coordinating movements (ataxia), muscle stiffness and weakness (spastic paralysis), seizures, and loss of intellectual function (dementia). ...
  10. ... related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Neurogenetics. 2005 Feb;6(1):1-16. doi: 10.1007/s10048-004-0207- ...
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