X-linked spinomuscular atrophy: a kindred with associated abnormal androgen receptor binding
| Autor: | K. R. Murray, C. L. Warner, Kenneth H. Fischbeck, D. Dickoff, Robert C. Griggs, Jean D. Wilson, James E. Griffin, Lawrence Jacobs |
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| Rok vydání: | 1992 |
| Předmět: |
Adult
Male medicine.medical_specialty X Chromosome medicine.drug_class Genetic Linkage Muscular Atrophy Spinal Radioligand Assay Atrophy Degenerative disease Semen Internal medicine medicine Endocrine system Humans Receptor Aged business.industry Middle Aged medicine.disease Androgen Pedigree Androgen receptor Spinal and bulbar muscular atrophy Kinetics Endocrinology Receptors Androgen Dihydrotestosterone Androgens Neurology (clinical) business medicine.drug |
| Zdroj: | Neurology. 42(11) |
| ISSN: | 0028-3878 |
| Popis: | We studied androgen receptor function in cultured scrotal skin fibroblasts from eight subjects with X-linked spinal and bulbar muscular atrophy (SBMA) (Kennedy9s syndrome) from four families. The neuromuscular and endocrine features were similar in all patients. High-affinity dihydrotestosterone binding (B max ) was decreased in three patients from one family (average, 11.1 fmol/mg) similar to values in subjects with androgen resistance syndromes. B max was normal in five SBMA patients from three other families (average, 26.0 fmol/mg). This finding provides direct evidence for abnormal androgen receptor function in some patients with SBMA. There was some correlation between severity of neuromuscular and endocrine dysfunction, providing further evidence that the two types of manifestations are related. |
| Databáze: | OpenAIRE |
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