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

doi:10.1212/wnl.42.11.2181

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 journal › Article › peer-review

65 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 (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.

Original language	English (US)
Pages (from-to)	2181-2184
Number of pages	4
Journal	Neurology
Volume	42
Issue number	11
DOIs	https://doi.org/10.1212/wnl.42.11.2181
State	Published - Nov 1992

ASJC Scopus subject areas

Clinical Neurology

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title = "X–linked spinomuscular atrophy: A kindred with associated abnormal androgen receptor binding",

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.",

author = "Warner, {C. L.} and {Griffin III}, Jim and Wilson, {J. D.} and Jacobs, {L. D.} and Murray, {K. R.} and Fischbeck, {K. H.} and D. Dickoff and Griggs, {R. C.}",

year = "1992",

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TY - JOUR

T1 - X–linked spinomuscular atrophy

T2 - A kindred with associated abnormal androgen receptor binding

AU - Warner, C. L.

AU - Griffin III, Jim

AU - Wilson, J. D.

AU - Jacobs, L. D.

AU - Murray, K. R.

AU - Fischbeck, K. H.

AU - Dickoff, D.

AU - Griggs, R. C.

PY - 1992/11

Y1 - 1992/11

N2 - 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.

AB - 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.

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JO - Neurology

JF - Neurology

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

Abstract

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