| Popis: |
An adult-onset, autosomal dominant neurodegenerative disorder characterized clinically by cerebellar ataxia, parkinsonism and dementia, has been studied in a large Indiana kindred (IK)1–3. The clinical signs of affected individuals have similarities with those observed in patients from an Austrian family (“H” family) described by Gerstmann Straussler and Scheinker4 and further characterized by Braunmuhl5, Seitelberger6,7, Budka et al.8, and Kretzschmar et al9. In the “H” family, the salient clinical features were adult-onset ataxia, pyramidal signs and dementia. The disease in the “H” family was inherited as an autosomal dominant trait. Neuropathologically, amyloid deposits in cerebellum and cerebrum as well as atrophy in spinal cord, brain stem and cerebellum, were consistently observed. |
