Familial Neurological Disease Associated With Spongiform Encephalopathy
| Autor: | W. Jann Brown, John Keesey, N. Paul Rosenthal, Barbara Crandall |
|---|---|
| Rok vydání: | 1976 |
| Předmět: |
Adult
Male Pathology medicine.medical_specialty Autopsy Disease Creutzfeldt-Jakob Syndrome Arts and Humanities (miscellaneous) mental disorders Eosinophilic medicine Humans Dementia Peripheral Nerves Myopathy Aged Cerebral Cortex Brain Diseases Muscle biopsy medicine.diagnostic_test business.industry Muscles Clinical course Middle Aged medicine.disease Pedigree Female Neurology (clinical) Spongiform encephalopathy medicine.symptom business |
| Zdroj: | Archives of Neurology. 33:252-259 |
| ISSN: | 0003-9942 |
| DOI: | 10.1001/archneur.1976.00500040036005 |
| Popis: | • In a family in whom susceptibility to neurological disease was transmitted in autosomal dominant fashion, the diseases affecting different family members ranged from subacute and chronic dementias to various motor system abnormalities without dementia. The propositus suffered a typical clinical course of Creutzfeldt-Jakob disease. Neuropathological observations revealed spongiform encephalopathy. A first cousin had a chronic dementia; no spongiform changes were present at autopsy. Both patients had PAS-positive, eosinophilic plaques throughout the brain. Muscle biopsy of the propositus revealed some changes suggestive of "ragged-red" myopathy. The heterogeneity of disease and the inheritance pattern in this family suggests that general susceptibility to neurological disease is a genetic trait. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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