ArticleNeurology2017
Nonalcoholic fatty liver disease in spinal and bulbar muscular atrophy.
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Article in Neurology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 2 of them syntheses that pooled it.
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24citing papers in PubMed, 2 pooled it
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Who cites it
24 citing papers in PubMed, 2 syntheses or guidelines pooled it, 39 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
- Signs and symptoms of carriers of non-Journal of neuromuscular diseases · 2025Article
- Association of serum Spp1 levels with disease progression in ALS and SBMA.Annals of clinical and translational neurology · 2024Article
- Article
- Differentially disrupted spinal cord and muscle energy metabolism in spinal and bulbar muscular atrophy.JCI insight · 2024Article
- Incidence and prevalence of Spinal and bulbar muscular atrophy in South Korea: a nationwide population-based study.Journal of neurology · 2023Article
- Article
- X-linked SBMA model mice display relevant non-neurological phenotypes and their expression of mutant androgen receptor protein in motor neurons is not required for neuromuscular disease.Acta neuropathologica communications · 2023Article
- 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
- Nonalcoholic Fatty Liver Disease in Patients with Inherited and Sporadic Motor Neuron Degeneration.Genes · 2022Article
- Metabolic Dysfunction in Spinal Muscular Atrophy.International journal of molecular sciences · 2021Review
- Molecular pathogenesis of spinal bulbar muscular atrophy (Kennedy's disease) and avenues for treatment.Current opinion in neurology · 2020Review
- Linking epigenetic dysregulation, mitochondrial impairment, and metabolic dysfunction in SBMA motor neurons.JCI insight · 2020Article
- Article
- Clinical Phenotyping and Biomarkers in Spinal and Bulbar Muscular Atrophy.Frontiers in neurology · 2020Article
- Genetic approaches to the treatment of inherited neuromuscular diseases.Human molecular genetics · 2019Review
- Molecular Mechanisms and Therapeutics for SBMA/Kennedy's Disease.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2019Review
- Kennedy's disease (spinal and bulbar muscular atrophy): a clinically oriented review of a rare disease.Journal of neurology · 2019Review
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Authors and funding
15 authors at 4 institutions in 2 countries.
Robert D GuberFrom the Neurogenetics Branch (R.D.G., A.K., D.A.F., I.K., D.B., K.H.F., C.G.), National Institute of Neurological Disorders and Stroke; Liver Diseases Branch (V.T., H.A., Y.R.), National Institute of Diabetes and Digestive and Kidney Diseases; Cardiovascular and Pulmonary Branch (A.T.R.), National Heart Lung & Blood Institute; Laboratory of Pathology (S.M.H., D.E.K.), National Cancer Institute; Radiology and Imaging Sciences (C.-Y.L.), Clinical Center, National Institute of Allergy and Infectious Diseases; and NIH (C.H.), Bethesda, MD.
Varun TakyarFrom the Neurogenetics Branch (R.D.G., A.K., D.A.F., I.K., D.B., K.H.F., C.G.), National Institute of Neurological Disorders and Stroke; Liver Diseases Branch (V.T., H.A., Y.R.), National Institute of Diabetes and Digestive and Kidney Diseases; Cardiovascular and Pulmonary Branch (A.T.R.), National Heart Lung & Blood Institute; Laboratory of Pathology (S.M.H., D.E.K.), National Cancer Institute; Radiology and Imaging Sciences (C.-Y.L.), Clinical Center, National Institute of Allergy and Infectious Diseases; and NIH (C.H.), Bethesda, MD.
Angela KokkinisFrom the Neurogenetics Branch (R.D.G., A.K., D.A.F., I.K., D.B., K.H.F., C.G.), National Institute of Neurological Disorders and Stroke; Liver Diseases Branch (V.T., H.A., Y.R.), National Institute of Diabetes and Digestive and Kidney Diseases; Cardiovascular and Pulmonary Branch (A.T.R.), National Heart Lung & Blood Institute; Laboratory of Pathology (S.M.H., D.E.K.), National Cancer Institute; Radiology and Imaging Sciences (C.-Y.L.), Clinical Center, National Institute of Allergy and Infectious Diseases; and NIH (C.H.), Bethesda, MD.
Derrick A FoxFrom the Neurogenetics Branch (R.D.G., A.K., D.A.F., I.K., D.B., K.H.F., C.G.), National Institute of Neurological Disorders and Stroke; Liver Diseases Branch (V.T., H.A., Y.R.), National Institute of Diabetes and Digestive and Kidney Diseases; Cardiovascular and Pulmonary Branch (A.T.R.), National Heart Lung & Blood Institute; Laboratory of Pathology (S.M.H., D.E.K.), National Cancer Institute; Radiology and Imaging Sciences (C.-Y.L.), Clinical Center, National Institute of Allergy and Infectious Diseases; and NIH (C.H.), Bethesda, MD.
Hawwa AlaoFrom the Neurogenetics Branch (R.D.G., A.K., D.A.F., I.K., D.B., K.H.F., C.G.), National Institute of Neurological Disorders and Stroke; Liver Diseases Branch (V.T., H.A., Y.R.), National Institute of Diabetes and Digestive and Kidney Diseases; Cardiovascular and Pulmonary Branch (A.T.R.), National Heart Lung & Blood Institute; Laboratory of Pathology (S.M.H., D.E.K.), National Cancer Institute; Radiology and Imaging Sciences (C.-Y.L.), Clinical Center, National Institute of Allergy and Infectious Diseases; and NIH (C.H.), Bethesda, MD.
Ilona KatsFrom the Neurogenetics Branch (R.D.G., A.K., D.A.F., I.K., D.B., K.H.F., C.G.), National Institute of Neurological Disorders and Stroke; Liver Diseases Branch (V.T., H.A., Y.R.), National Institute of Diabetes and Digestive and Kidney Diseases; Cardiovascular and Pulmonary Branch (A.T.R.), National Heart Lung & Blood Institute; Laboratory of Pathology (S.M.H., D.E.K.), National Cancer Institute; Radiology and Imaging Sciences (C.-Y.L.), Clinical Center, National Institute of Allergy and Infectious Diseases; and NIH (C.H.), Bethesda, MD.
Dara BakarFrom the Neurogenetics Branch (R.D.G., A.K., D.A.F., I.K., D.B., K.H.F., C.G.), National Institute of Neurological Disorders and Stroke; Liver Diseases Branch (V.T., H.A., Y.R.), National Institute of Diabetes and Digestive and Kidney Diseases; Cardiovascular and Pulmonary Branch (A.T.R.), National Heart Lung & Blood Institute; Laboratory of Pathology (S.M.H., D.E.K.), National Cancer Institute; Radiology and Imaging Sciences (C.-Y.L.), Clinical Center, National Institute of Allergy and Infectious Diseases; and NIH (C.H.), Bethesda, MD.
Alan T RemaleyFrom the Neurogenetics Branch (R.D.G., A.K., D.A.F., I.K., D.B., K.H.F., C.G.), National Institute of Neurological Disorders and Stroke; Liver Diseases Branch (V.T., H.A., Y.R.), National Institute of Diabetes and Digestive and Kidney Diseases; Cardiovascular and Pulmonary Branch (A.T.R.), National Heart Lung & Blood Institute; Laboratory of Pathology (S.M.H., D.E.K.), National Cancer Institute; Radiology and Imaging Sciences (C.-Y.L.), Clinical Center, National Institute of Allergy and Infectious Diseases; and NIH (C.H.), Bethesda, MD.
Stephen M HewittFrom the Neurogenetics Branch (R.D.G., A.K., D.A.F., I.K., D.B., K.H.F., C.G.), National Institute of Neurological Disorders and Stroke; Liver Diseases Branch (V.T., H.A., Y.R.), National Institute of Diabetes and Digestive and Kidney Diseases; Cardiovascular and Pulmonary Branch (A.T.R.), National Heart Lung & Blood Institute; Laboratory of Pathology (S.M.H., D.E.K.), National Cancer Institute; Radiology and Imaging Sciences (C.-Y.L.), Clinical Center, National Institute of Allergy and Infectious Diseases; and NIH (C.H.), Bethesda, MD.
David E KleinerFrom the Neurogenetics Branch (R.D.G., A.K., D.A.F., I.K., D.B., K.H.F., C.G.), National Institute of Neurological Disorders and Stroke; Liver Diseases Branch (V.T., H.A., Y.R.), National Institute of Diabetes and Digestive and Kidney Diseases; Cardiovascular and Pulmonary Branch (A.T.R.), National Heart Lung & Blood Institute; Laboratory of Pathology (S.M.H., D.E.K.), National Cancer Institute; Radiology and Imaging Sciences (C.-Y.L.), Clinical Center, National Institute of Allergy and Infectious Diseases; and NIH (C.H.), Bethesda, MD.
Chia-Ying LiuFrom the Neurogenetics Branch (R.D.G., A.K., D.A.F., I.K., D.B., K.H.F., C.G.), National Institute of Neurological Disorders and Stroke; Liver Diseases Branch (V.T., H.A., Y.R.), National Institute of Diabetes and Digestive and Kidney Diseases; Cardiovascular and Pulmonary Branch (A.T.R.), National Heart Lung & Blood Institute; Laboratory of Pathology (S.M.H., D.E.K.), National Cancer Institute; Radiology and Imaging Sciences (C.-Y.L.), Clinical Center, National Institute of Allergy and Infectious Diseases; and NIH (C.H.), Bethesda, MD.
Colleen HadiganFrom the Neurogenetics Branch (R.D.G., A.K., D.A.F., I.K., D.B., K.H.F., C.G.), National Institute of Neurological Disorders and Stroke; Liver Diseases Branch (V.T., H.A., Y.R.), National Institute of Diabetes and Digestive and Kidney Diseases; Cardiovascular and Pulmonary Branch (A.T.R.), National Heart Lung & Blood Institute; Laboratory of Pathology (S.M.H., D.E.K.), National Cancer Institute; Radiology and Imaging Sciences (C.-Y.L.), Clinical Center, National Institute of Allergy and Infectious Diseases; and NIH (C.H.), Bethesda, MD.
Kenneth H FischbeckFrom the Neurogenetics Branch (R.D.G., A.K., D.A.F., I.K., D.B., K.H.F., C.G.), National Institute of Neurological Disorders and Stroke; Liver Diseases Branch (V.T., H.A., Y.R.), National Institute of Diabetes and Digestive and Kidney Diseases; Cardiovascular and Pulmonary Branch (A.T.R.), National Heart Lung & Blood Institute; Laboratory of Pathology (S.M.H., D.E.K.), National Cancer Institute; Radiology and Imaging Sciences (C.-Y.L.), Clinical Center, National Institute of Allergy and Infectious Diseases; and NIH (C.H.), Bethesda, MD.
Yaron RotmanFrom the Neurogenetics Branch (R.D.G., A.K., D.A.F., I.K., D.B., K.H.F., C.G.), National Institute of Neurological Disorders and Stroke; Liver Diseases Branch (V.T., H.A., Y.R.), National Institute of Diabetes and Digestive and Kidney Diseases; Cardiovascular and Pulmonary Branch (A.T.R.), National Heart Lung & Blood Institute; Laboratory of Pathology (S.M.H., D.E.K.), National Cancer Institute; Radiology and Imaging Sciences (C.-Y.L.), Clinical Center, National Institute of Allergy and Infectious Diseases; and NIH (C.H.), Bethesda, MD.
Christopher GrunseichFrom the Neurogenetics Branch (R.D.G., A.K., D.A.F., I.K., D.B., K.H.F., C.G.), National Institute of Neurological Disorders and Stroke; Liver Diseases Branch (V.T., H.A., Y.R.), National Institute of Diabetes and Digestive and Kidney Diseases; Cardiovascular and Pulmonary Branch (A.T.R.), National Heart Lung & Blood Institute; Laboratory of Pathology (S.M.H., D.E.K.), National Cancer Institute; Radiology and Imaging Sciences (C.-Y.L.), Clinical Center, National Institute of Allergy and Infectious Diseases; and NIH (C.H.), Bethesda, MD. christopher.grunseich@nih.gov.
National Cancer Institute · MYNational Institute of Allergy and Infectious Diseases · USNational Institute of Diabetes and Digestive and Kidney Diseases · USNational Heart Lung and Blood Institute · US
Funding
Studies of Hereditary Neurological Disease: Disease MechanismsZIANS003038 · NINDS · NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE · PI FISCHBECK, KENNETH · 2009 to 2023
$19.5MNonalcoholic Steatohepatitis: Natural History, Pathogenesis and TherapyZIADK075013 · NIDDK · NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES · PI ROTMAN, YARON · 2009 to 2025
$19.1MAbstract
objectiveTo determine the prevalence and features of fatty liver disease in spinal and bulbar muscular atrophy (SBMA).
methodsTwo groups of participants with SBMA were evaluated. In the first group, 22 participants with SBMA underwent laboratory analysis and liver imaging. In the second group, 14 participants with SBMA were compared to 13 female carriers and 23 controls. Liver biopsies were done in 4 participants with SBMA.
resultsEvidence of fatty liver disease was detected by magnetic resonance spectroscopy in all participants with SBMA in the first group, with an average dome intrahepatic triacylglycerol of 27% (range 6%-66%, ref ≤5.5%). Liver dome magnetic resonance spectroscopy measurements were significantly increased in participants with SBMA in the second group relative to age- and sex-matched controls, with average disease and male control measurements of 17% and 3%, respectively. Liver biopsies were consistent with simple steatosis in 2 participants and nonalcoholic steatohepatitis in 2 others.
conclusionsWe observed evidence of nonalcoholic liver disease in nearly all of the participants with SBMA evaluated. These observations expand the phenotypic spectrum of the disease and provide a potential biomarker that can be monitored in future studies.
Indexed as
AdultAgedBiopsyCase-Control StudiesFemaleGene ExpressionHeterozygoteHumansLiverMagnetic Resonance SpectroscopyMaleMiddle AgedMuscular Disorders, AtrophicNon-alcoholic Fatty Liver DiseasePrevalenceReceptors, AndrogenReceptors, AndrogenTriglycerides
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