ArticleJournal of neurology2018
The metabolic and endocrine characteristics in spinal and bulbar muscular atrophy.
Article in Journal of neurology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
23 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Guideline
- Best practice recommendations for the clinical care of spinal bulbar muscular atrophy.CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne · 2025Guideline
- Beyond the brain: Polyglutamine disease pathology outside the nervous system.Neurobiology of disease · 2026Review
- Blood Glucose Homeostasis is Preserved in Patients with Mild-to-moderate Spinocerebellar Ataxia Type 2.Cerebellum (London, England) · 2026Article
- Clinical Significance of Plasma Sphingosine-1-Phosphate Decline in Progression of Spinal and Bulbar Muscular Atrophy.Journal of clinical neurology (Seoul, Korea) · 2026Article
- Heterogeneous phenotype and cardiovascular comorbidities in Swedish patients with spinobulbar muscular atrophy.Journal of neurology · 2026Article
- Acetylcholine receptor antibody-positive myasthenia gravis and Kennedy's disease overlap syndrome: a case report and literature review.Frontiers in immunology · 2026Review
- Kennedy's disease from India: An Indian Cohort with multisystemic manifestations.Journal of neuromuscular diseases · 2025Article
- Kennedy Disease in Latin America: Two New Mexican Cases and a Systematic Review of Regional Reports.Cureus · 2025Article
- Differentially disrupted spinal cord and muscle energy metabolism in spinal and bulbar muscular atrophy.JCI insight · 2024Article
- A systematic review of the association between the age of onset of spinal bulbar muscular atrophy (Kennedy's disease) and the length of CAG repeats in the androgen receptor gene.eNeurologicalSci · 2024Review
- A phenotypically robust model of spinal and bulbar muscular atrophy in Drosophila.Journal of neuroscience research · 2024Article
- Review
- The Role of Sphingomyelin and Ceramide in Motor Neuron Diseases.Journal of personalized medicine · 2022Review
- Metabolic Dysfunction in Spinal Muscular Atrophy.International journal of molecular sciences · 2021Review
- Late-onset hypogonadism: Clinical evidence, biological aspects and evolutionary considerations.Ageing research reviews · 2021Review
- The French national protocol for Kennedy's disease (SBMA): consensus diagnostic and management recommendations.Orphanet journal of rare diseases · 2020Article
- Article
- Clinical Phenotyping and Biomarkers in Spinal and Bulbar Muscular Atrophy.Frontiers in neurology · 2020Article
- Molecular Mechanisms and Therapeutics for SBMA/Kennedy's Disease.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2019Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
20 authors.
Funding
Abstract
objectiveSpinal 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.
methodsWe 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.
resultsAlmost 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%).
conclusionsMetabolic 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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.