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Results 1 - 5 of 5 for Spastic ataxia 2
  1. SACS gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/sacs - Genetics
  2. 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
  3. POLR3A gene 
    ... are a frequent cause of sporadic and recessive spastic ataxia. Brain. 2017 Jun 1;140(6):1561-1578. ...
    https://medlineplus.gov/genetics/gene/polr3a - Genetics
  4. PNPLA6 gene 
    ... above), Oliver-McFarlane syndrome, Laurence-Moon syndrome, and spastic paraplegia type 39. PNPLA6-related disorders feature combinations of overlapping signs and symptoms, including ataxia, muscle stiffness (spasticity), abnormally fast (brisk) reflexes, reduced ...
    https://medlineplus.gov/genetics/gene/pnpla6 - Genetics
  5. PNP gene 
    ... Mol Genet Metab. 2005 Sep-Oct;86(1-2):25-33. doi: 10.1016/j.ymgme.2005.07.027. ... patient with spastic paraplegia and recurrent infections. J Child Neurol. 2007 ...
    https://medlineplus.gov/genetics/gene/pnp - Genetics