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Spastic ataxia 2
- ... 1007/s00415-018-8950-4. Epub 2018 Jul 2. Citation on PubMed
- ... that is characterized by abnormal tensing of the muscles (spasticity), problems with balance and coordination (cerebellar ataxia), and reduced sensation and weakness in the arms and legs (peripheral neuropathy).Two SACS gene mutations have been found frequently in ...
- ... EFNS. EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. Eur J Neurol. 2010 Feb;17(2):179-88. doi: 10.1111/j.1468-1331. ...
- ... additional features. People with the complex form of spastic paraplegia type 2 have lower limb spasticity and can also experience problems with movement and balance (ataxia); involuntary movements of the eyes (nystagmus); mild intellectual ...
- ... N, Bouchard JP, Brais B, Rouleau GA. Hereditary ataxia, spastic paraparesis and neuropathy in the French-Canadian population. Can J Neurol Sci. 2006 May;33(2):149-57. doi: 10.1017/s031716710000490x. Citation on ...
- ... 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: ...
- ... form, amyloidosis occurs in the leptomeninges, which are two thin layers of tissue ... paralysis), seizures, and loss of intellectual function (dementia). ...
- ... with TUBB4A-related leukodystrophy fall in between these two extremes. Affected ... and ataxia without the other movement or learning problems common ...
- ... are a frequent cause of sporadic and recessive spastic ataxia. Brain. 2017 Jun 1;140(6):1561-1578. ...
- Neuromuscular Disorders (National Library of Medicine)Neuromuscular disorders affect your neuromuscular system. They can cause problems with: The nerves that control your muscles Your muscles Communication between your ...