Intrafamilial variability in Machado-Joseph disease
| Autor: | Robert D. Currier, S. H. Subramony |
|---|---|
| Rok vydání: | 1996 |
| Předmět: |
Adult
Male congenital hereditary and neonatal diseases and abnormalities Disease Gene mutation Antiparkinson Agents Levodopa Degenerative disease Extrapyramidal syndromes Humans Medicine Genetic variability Genes Dominant Intrafamilial variability Neurologic Examination Genetics business.industry Carbidopa Machado-Joseph Disease medicine.disease Phenotype Drug Combinations Neurology Female Neurology (clinical) business Neuroscience Machado–Joseph disease |
| Zdroj: | Movement Disorders. 11:741-743 |
| ISSN: | 1531-8257 0885-3185 |
| Popis: | Dominantly inherited ataxias resulting from different gene mutations are difficult to distinguish based on clinical phenotypes. We believe the phenotypic variability within families can be a clue to clinical diagnosis. We illustrate the range of phenotypes extending from levodopa-responsive extrapyramidal disease to more purely ataxic syndromes seen in two families with molecularly proven Machado-Joseph disease. |
| Databáze: | OpenAIRE |
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