title: Spinocerebellar ataxia type 14.
abstract: SCA14 is an autosomal dominant hereditary cerebellar ataxia that usually has an onset in early to mid adult life, with slow progression and normal lifespan. Although generally an uncomplicated cerebellar ataxia with gait imbalance, dysarthria, and nystagmus, there is occasionally sensory loss, hyperactive tendon reflexes, cognitive decline, or myoclonus. Brain MRI shows cerebellar atrophy. A single autopsy has shown loss of cerebellar Purkinje cells. The disease is caused by mutations in the protein kinase C gamma (PKCγ, PRKCG) gene with a hotspot for mutations in exon 4. Genetic testing for SCA14 is clinically available.
authors.affiliation: Department of Neurology, University of Washington, Seattle, WA, USA.
authors.forename: Dong-Hui
authors.initials: DH
authors.lastname: Chen
authors.forename: Wendy H
authors.initials: WH
authors.lastname: Raskind
authors.forename: Thomas D
authors.initials: TD
authors.lastname: Bird
mesh_terms: D001921:Brain / Q000378:metabolism / Q000473:pathology; D006801:Humans; D009154:Mutation / Q000235:genetics*; D011493:Protein Kinase C / Q000235:genetics* / Q000378:metabolism; D020754:Spinocerebellar Ataxias; D013132:Spinocerebellar Degenerations / Q000453:epidemiology / Q000235:genetics / Q000473:pathology
chemical_list: C087857:protein kinase C gamma; D011493:Protein Kinase C