Article
Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3.
Journal of neurology, neurosurgery, and psychiatry - 1 Feb 2012
Horvath Rita, Czermin Birgit, Gulati Sweena, Demuth Stephanie, Houge Gunnar, Pyle Angela, Dineiger Christine, Blakely Emma L, Hassani Adam, Foley Charlotte, Brodhun Michael, Storm Karin, Kirschner Janbernd, Gorman Grainne S, Lochmüller Hanns, Holinski-Feder Elke, Taylor Robert W, Chinnery Patrick F
Abstract excerpt
OBJECTIVE: Inherited ataxias are heterogeneous disorders affecting both children and adults. The primary cause can be identified in about half of the patients and only very few can receive causative therapy. METHODS: The authors performed sequencing of known Coenzyme Q10 (CoQ10) deficiency genes in 22 patients with unexplained recessive or sporadic ataxia. RESULTS: CABC1/ADCK3 mutations were detected in four...
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