X–linked spinomuscular atrophy: A kindred with associated abnormal androgen receptor binding

C. L. Warner, Jim Griffin III, J. D. Wilson, L. D. Jacobs, K. R. Murray, K. H. Fischbeck, D. Dickoff, R. C. Griggs

Research output: Contribution to journalArticlepeer-review

62 Scopus citations

Abstract

Article abstract We studied androgen receptor function in cultured scrotal skin fibroblasts from eight subjects with X–linked spinal and bulbar muscular atrophy (SBMA) (Kennedy's syndrome) from four families. The neuromuscular and endocrine features were similar in all patients. High–affinity dihydrotestosterone binding (Bmax) was decreased in three patients from one family (average, 11.1 fmol/mg) similar to values in subjects with androgen resistance syndromes. Bmax 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.

Original languageEnglish (US)
Pages (from-to)2181-2184
Number of pages4
JournalNeurology
Volume42
Issue number11
DOIs
StatePublished - Nov 1992

ASJC Scopus subject areas

  • Clinical Neurology

Fingerprint Dive into the research topics of 'X–linked spinomuscular atrophy: A kindred with associated abnormal androgen receptor binding'. Together they form a unique fingerprint.

Cite this