| A rare disease with manifestations of slowly progressive ataxia, dysarthria and nystagmus. The disease has been reported in more than twenty families from Europe, the United States, and Australia. Onset is usually in early adulthood while symptomatic disease onset may be from 10 to 70 years. In addition to cerebellar signs, hyperreflexia and decreased vibration sense are frequently observed. Caused by missense mutations in the PRKCG gene (19q13.4) encoding protein kinase C gamma (PKC-gamma). |
