ArticleJournal of neurology, neurosurgery, and psychiatry2016
Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients.
Article in Journal of neurology, neurosurgery, and psychiatry, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT07443449 (Connecting SBMA National Registries/Databases), which is not on this map. Cited by 41 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.
Connecting SBMA National Registries/Databases: a Retrospective Study
Who cites it
41 citing papers in PubMed, 2 syntheses or guidelines pooled it, 79 citations in OpenAlex.
- 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
- Estimating the minimal clinically important difference of functional outcomes in spinal and bulbar muscular atrophy.Journal of neurology · 2026Article
- PGC-1α pathway dysregulation disrupts myofiber specification in a mouse model of SBMA.JCI insight · 2026Article
- Heterogeneous phenotype and cardiovascular comorbidities in Swedish patients with spinobulbar muscular atrophy.Journal of neurology · 2026Article
- Bone Fragility and Fracture Characteristics in Patients With Spinal and Bulbar Muscular Atrophy.European journal of neurology · 2025Article
- Targeting androgen receptor stability and degradation: approaches for developing a therapy for spinal and bulbar muscular atrophy.Cell communication and signaling : CCS · 2025Review
- Kennedy's disease from India: An Indian Cohort with multisystemic manifestations.Journal of neuromuscular diseases · 2025Article
- Hearing Function in Spinal and Bulbar Muscular Atrophy (SBMA): A Case Control Study From a Tertiary Referral Center.European journal of neurology · 2025Article
- Differentially disrupted spinal cord and muscle energy metabolism in spinal and bulbar muscular atrophy.JCI insight · 2024Article
- The value of serum creatinine as biomarker of disease progression in spinal and bulbar muscular atrophy (SBMA).Scientific reports · 2023Article
- Incidence and prevalence of Spinal and bulbar muscular atrophy in South Korea: a nationwide population-based study.Journal of neurology · 2023Article
- Review
- LSD1/PRMT6-targeting gene therapy to attenuate androgen receptor toxic gain-of-function ameliorates spinobulbar muscular atrophy phenotypes in flies and mice.Nature communications · 2023Article
- Kennedy's disease presented with mastication fatigue combined with positive titin antibody: a case report.BMC neurology · 2022Article
- The role of ubiquitination in spinal and bulbar muscular atrophy.Frontiers in molecular neuroscience · 2022Review
- Metabolic Dysfunction in Spinal Muscular Atrophy.International journal of molecular sciences · 2021Review
- Enhanced Neural Empathic Responses in Patients with Spino-Bulbar Muscular Atrophy: An Electrophysiological Study.Brain sciences · 2020Article
- The French national protocol for Kennedy's disease (SBMA): consensus diagnostic and management recommendations.Orphanet journal of rare diseases · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
23 authors at 5 institutions in 3 countries.
Funding
Abstract
objectiveTo carry out a deep characterisation of the main androgen-responsive tissues involved in spinal and bulbar muscular atrophy (SBMA).
methods73 consecutive Italian patients underwent a full clinical protocol including biochemical and hormonal analyses, genitourinary examination, bone metabolism and densitometry, cardiological evaluation and muscle pathology.
resultsCreatine kinase levels were slightly to markedly elevated in almost all cases (68 of the 73; 94%). 30 (41%) patients had fasting glucose above the reference limit, and many patients had total cholesterol (40; 54.7%), low-density lipoproteins cholesterol (29; 39.7%) and triglyceride (35; 48%) levels above the recommended values. Although testosterone, luteinising hormone and follicle-stimulating hormone values were generally normal, in one-third of cases we calculated an increased Androgen Sensitivity Index reflecting the presence of androgen resistance in these patients. According to the International Prostate Symptom Score (IPSS), 7/70 (10%) patients reported severe lower urinal tract symptoms (IPSS score >19), and 21/73 (30%) patients were moderately symptomatic (IPSS score from 8 to 19). In addition, 3 patients were carriers of an indwelling bladder catheter. Videourodynamic evaluation indicated that 4 of the 7 patients reporting severe urinary symptoms had an overt prostate-unrelated bladder outlet obstruction. Dual-energy X-ray absorptiometry scan data were consistent with low bone mass in 25/61 (41%) patients. Low bone mass was more frequent at the femoral than at the lumbar level. Skeletal muscle biopsy was carried out in 20 patients and myogenic changes in addition to the neurogenic atrophy were mostly observed.
conclusionsOur study provides evidence of a wide non-neural clinical phenotype in SBMA, suggesting the need for comprehensive multidisciplinary protocols for these patients.
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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.