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Results 1 - 10 of 24 for Spastic ataxia 1
  1. POLR3A gene 
    ... are a frequent cause of sporadic and recessive spastic ataxia. Brain. 2017 Jun 1;140(6):1561-1578. doi: 10.1093/brain/ ...
    https://medlineplus.gov/genetics/gene/polr3a - Genetics
  2. Autosomal recessive spastic ataxia of Charlevoix-Saguenay 
    ... 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. ...
    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: ...
    https://medlineplus.gov/genetics/gene/spg7 - Genetics
  4. Spastic paraplegia type 2 
    ... 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 ...
    https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-2 - Genetics
  5. Where can I read more about the diseases and traits covered in my direct-to-consumer genetic testing report?: ... 
    ... MUTYH-associated polyposis Age-related macular degeneration Alpha-1 antitrypsin ... recessive spastic ataxia of Charlevoix-Saguenay , also called ARSACS Andermann syndrome , ...
    https://medlineplus.gov/.../dtcgenetictesting/dtcghrpages - Genetics
  6. Andermann syndrome 
    ... 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 ...
    https://medlineplus.gov/genetics/condition/andermann-syndrome - Genetics
  7. 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 ...
    https://medlineplus.gov/.../condition/spastic-paraplegia-type-5a - Genetics
  8. 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
  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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