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X-linked spinomuscular atrophy: a kindred with associated abnormal androgen receptor binding
C L Warner1, J E Griffin, J D Wilson
1Department of Neurology, SUNY, Buffalo.
Neurology
|November 1, 1992
Summary
Androgen receptor function is abnormal in some patients with spinal and bulbar muscular atrophy (SBMA), also known as Kennedy's syndrome. This dysfunction may link the neuromuscular and endocrine symptoms observed in affected individuals.
Area of Science:
- Neuroscience
- Endocrinology
- Genetics
Background:
- X-linked spinal and bulbar muscular atrophy (SBMA), or Kennedy's syndrome, is a progressive neuromuscular disorder.
- The role of androgen receptor (AR) function in SBMA pathogenesis is not fully understood.
- SBMA presents with both neuromuscular and endocrine manifestations.
Purpose of the Study:
- To investigate androgen receptor function in fibroblasts from SBMA patients.
- To determine if AR dysfunction correlates with disease severity or specific patient subgroups.
- To explore the relationship between neuromuscular and endocrine features in SBMA.
Main Methods:
- Cultured scrotal skin fibroblasts were obtained from eight subjects with SBMA across four families.
- High-affinity dihydrotestosterone (DHT) binding (Bmax) was measured in fibroblast cultures.
- Neuromuscular and endocrine features of the patients were clinically assessed.
Main Results:
- Decreased Bmax was observed in three SBMA patients from one family, consistent with androgen resistance.
- Normal Bmax levels were found in five SBMA patients from three other families.
- A correlation was noted between the severity of neuromuscular and endocrine dysfunction.
Conclusions:
- This study provides direct evidence for abnormal androgen receptor function in a subset of SBMA patients.
- Androgen receptor dysfunction may contribute to the clinical manifestations of SBMA.
- The findings support a link between AR function and the observed neuromuscular and endocrine phenotypes in SBMA.