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 journalArticle

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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
StatePublished - 1992

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Androgen Receptors
Atrophy
X-Linked Bulbo-Spinal Atrophy
Atrophic Muscular Disorders
Androgen-Insensitivity Syndrome
Dihydrotestosterone
Fibroblasts
Skin

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Warner, C. L., Griffin III, J., Wilson, J. D., Jacobs, L. D., Murray, K. R., Fischbeck, K. H., ... Griggs, R. C. (1992). X-linked spinomuscular atrophy: A kindred with associated abnormal androgen receptor binding. Neurology, 42(11), 2181-2184.

X-linked spinomuscular atrophy : A kindred with associated abnormal androgen receptor binding. / Warner, C. L.; Griffin III, Jim; Wilson, J. D.; Jacobs, L. D.; Murray, K. R.; Fischbeck, K. H.; Dickoff, D.; Griggs, R. C.

In: Neurology, Vol. 42, No. 11, 1992, p. 2181-2184.

Research output: Contribution to journalArticle

Warner, CL, Griffin III, J, Wilson, JD, Jacobs, LD, Murray, KR, Fischbeck, KH, Dickoff, D & Griggs, RC 1992, 'X-linked spinomuscular atrophy: A kindred with associated abnormal androgen receptor binding', Neurology, vol. 42, no. 11, pp. 2181-2184.
Warner CL, Griffin III J, Wilson JD, Jacobs LD, Murray KR, Fischbeck KH et al. X-linked spinomuscular atrophy: A kindred with associated abnormal androgen receptor binding. Neurology. 1992;42(11):2181-2184.
Warner, C. L. ; Griffin III, Jim ; Wilson, J. D. ; Jacobs, L. D. ; Murray, K. R. ; Fischbeck, K. H. ; Dickoff, D. ; Griggs, R. C. / X-linked spinomuscular atrophy : A kindred with associated abnormal androgen receptor binding. In: Neurology. 1992 ; Vol. 42, No. 11. pp. 2181-2184.
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