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The metabolic and endocrine characteristics in spinal and bulbar muscular atrophy.

Abstract：

OBJECTIVE:Spinal and bulbar muscular atrophy (SBMA) is caused by an abnormal expansion of the CAG repeat in the androgen receptor gene. This study aimed to systematically phenotype a German SBMA cohort (n = 80) based on laboratory markers for neuromuscular, metabolic, and endocrine status, and thus provide a basis for the selection of biomarkers for future therapeutic trials. METHODS:We assessed a panel of 28 laboratory parameters. The clinical course and blood biomarkers were correlated with disease duration and CAG repeat length. A subset of 11 patients was evaluated with body fat MRI. RESULTS:Almost all patients reported muscle weakness (99%), followed by dysphagia (77%), tremor (76%), and gynecomastia (75%) as major complaints. Creatine kinase was the most consistently elevated (94%) serum marker, which, however, did not relate with either the disease duration or the CAG repeat length. Paresis duration and CAG repeat length correlated with dehydroepiandrosterone sulfate after correction for body mass index and age. The androgen insensitivity index was elevated in nearly half of the participants (48%). CONCLUSIONS:Metabolic alterations in glucose homeostasis (diabetes) and fat metabolism (combined hyperlipidemia), and sex hormone abnormalities (androgen insensitivity) could be observed among SBMA patients without association with the neuromuscular phenotype. Dehydroepiandrosterone sulfate was the only biomarker that correlated strongly with both weakness duration and the CAG repeat length after adjusting for age and BMI, indicating its potential as a biomarker for both disease severity and duration and, therefore, its possible use as a reliable outcome measure in future therapeutic studies.

journal_name

J Neurol

journal_title

Journal of neurology

authors

Rosenbohm A,Hirsch S,Volk AE,Grehl T,Grosskreutz J,Hanisch F,Herrmann A,Kollewe K,Kress W,Meyer T,Petri S,Prudlo J,Wessig C,Müller HP,Dreyhaupt J,Weishaupt J,Kubisch C,Kassubek J,Weydt P,Ludolph AC

doi

10.1007/s00415-018-8790-2

subject

Has Abstract

pub_date

2018-05-01 00:00:00

pages

1026-1036

issue

eissn

0340-5354

issn

1432-1459

pii

10.1007/s00415-018-8790-2

journal_volume

265

pub_type

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The metabolic and endocrine characteristics in spinal and bulbar muscular atrophy.