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Spastic ataxia
- ... gene have been found to cause autosomal recessive spastic ataxia of Charlevoix-Saguenay, commonly called ARSACS. ARSACS is ... Condition ARSACS DNAJC29 KIAA0730 PPP1R138 SACS_HUMAN sacsin spastic ataxia of Charlevoix-Saguenay (sacsin) SPAX6 Tests of SACS ...
- ... are a frequent cause of sporadic and recessive spastic ataxia. Brain. 2017 Jun 1;140(6):1561-1578. ...
- ... 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 ...
- ... 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: ...
- ... Purine nucleoside phosphorylase deficiency in a patient with spastic paraplegia and recurrent infections. J Child Neurol. 2007 ...