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Results 1 - 4 of 4 for Spastic ataxia 5
  1. SACS gene 
    ... detection of the sacsin mutations causing autosomal recessive spastic ataxia of Charlevoix-Saguenay. Genet Test. 2001 Fall;5(3):255-9. doi: 10.1089/10906570152742326. Citation ...
    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: 10.1212/WNL.0000000000001628. ...
    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. PNP gene 
    ... Purine nucleoside phosphorylase deficiency in a patient with spastic paraplegia and recurrent infections. J Child Neurol. 2007 ...
    https://medlineplus.gov/genetics/gene/pnp - Genetics