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The metabolic and endocrine characteristics in spinal and bulbar muscular atrophy

Journal of Neurology Mar 04, 2018

Rosenbohm A, et al. - Researchers aspired to systematically phenotype a German spinal and bulbar muscular atrophy (SBMA) cohort (n = 80) based on laboratory markers for neuromuscular, metabolic, and endocrine status, thereby offering a basis for the selection of biomarkers. Findings brought to light the possible metabolic alterations in glucose homeostasis (diabetes) and fat metabolism (combined hyperlipidemia), and sex hormone abnormalities (androgen insensitivity) among SBMA patients without a correlation with the neuromuscular phenotype. It was determined that dehydroepiandrosterone sulfate was the only biomarker which exhibited a strong connection with both weakness duration and the CAG repeat length after adjusting for age and BMI. Therefore, its potential was illustrated as a biomarker for disease severity and duration.
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