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[PMID]: 27276254 [Au] Autor: Eftekharzadeh B; Piai A; Chiesa G; Mungianu D; García J; Pierattelli R; Felli IC; Salvatella X [Ad] Endereço: Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, Barcelona, Spain. [Ti] Título: Sequence Context Influences the Structure and Aggregation Behavior of a PolyQ Tract. [So] Source: Biophys J;110(11):2361-2366, 2016 Jun 07. [Is] ISSN: 1542-0086 [Cp] País de publicação: United States [La] Idioma: eng [Ab] Resumo: Expansions of polyglutamine (polyQ) tracts in nine different proteins cause a family of neurodegenerative disorders called polyQ diseases. Because polyQ tracts are potential therapeutic targets for these pathologies there is great interest in characterizing the conformations that they adopt and in understanding how their aggregation behavior is influenced by the sequences flanking them. We used solution NMR to study at single-residue resolution a 156-residue proteolytic fragment of the androgen receptor that contains a polyQ tract associated with the disease spinobulbar muscular atrophy, also known as Kennedy disease. Our findings indicate that a Leu-rich region preceding the polyQ tract causes it to become α-helical and appears to protect the protein against aggregation, which represents a new, to our knowledge, mechanism by which sequence context can minimize the deleterious properties of these repetitive regions. Our results have implications for drug discovery for polyQ diseases because they suggest that the residues flanking these repetitive sequences may represent viable therapeutic targets. [Mh] Termos MeSH primário: Peptídeos/genética Peptídeos/metabolismo [Mh] Termos MeSH secundário: Sequência de Aminoácidos Atrofia Bulboespinal Ligada ao X/genética Atrofia Bulboespinal Ligada ao X/metabolismo Espectroscopia de Ressonância Magnética Nuclear de Carbono-13 Dicroísmo Circular Difusão Dinâmica da Luz Escherichia coli Seres Humanos Cinética Ressonância Magnética Nuclear Biomolecular Multimerização Proteica/genética Estrutura Secundária de Proteína/genética Espectroscopia de Prótons por Ressonância Magnética Receptores Androgênicos/genética Receptores Androgênicos/metabolismo [Pt] Tipo de publicação: JOURNAL ARTICLE [Nm] Nome de substância: 0 (Peptides); 0 (Receptors, Androgen); 26700-71-0 (polyglutamine) [Em] Mês de entrada: 1707 [Cu] Atualização por classe: 170922 [Lr] Data última revisão: 170922 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 160609 [St] Status: MEDLINE

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[PMID]: 26962150 [Au] Autor: Bott LC; Badders NM; Chen KL; Harmison GG; Bautista E; Shih CC; Katsuno M; Sobue G; Taylor JP; Dantuma NP; Fischbeck KH; Rinaldi C [Ad] Endereço: Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, Bethesda, MD 20892, USA, Department of Cell and Molecular Biology, Karolinska Institutet, 17177 Stockholm, Sweden, laura.bott@northwestern.edu. [Ti] Título: A small-molecule Nrf1 and Nrf2 activator mitigates polyglutamine toxicity in spinal and bulbar muscular atrophy. [So] Source: Hum Mol Genet;25(10):1979-1989, 2016 May 15. [Is] ISSN: 1460-2083 [Cp] País de publicação: England [La] Idioma: eng [Ab] Resumo: Spinal and bulbar muscular atrophy (SBMA, also known as Kennedy's disease) is one of nine neurodegenerative disorders that are caused by expansion of polyglutamine-encoding CAG repeats. Intracellular accumulation of abnormal proteins in these diseases, a pathological hallmark, is associated with defects in protein homeostasis. Enhancement of the cellular proteostasis capacity with small molecules has therefore emerged as a promising approach to treatment. Here, we characterize a novel curcumin analog, ASC-JM17, as an activator of central pathways controlling protein folding, degradation and oxidative stress resistance. ASC-JM17 acts on Nrf1, Nrf2 and Hsf1 to increase the expression of proteasome subunits, antioxidant enzymes and molecular chaperones. We show that ASC-JM17 ameliorates toxicity of the mutant androgen receptor (AR) responsible for SBMA in cell, fly and mouse models. Knockdown of the Drosophila Nrf1 and Nrf2 ortholog cap 'n' collar isoform-C, but not Hsf1, blocks the protective effect of ASC-JM17 on mutant AR-induced eye degeneration in flies. Our observations indicate that activation of the Nrf1/Nrf2 pathway is a viable option for pharmacological intervention in SBMA and potentially other polyglutamine diseases. [Mh] Termos MeSH primário: Atrofia Bulboespinal Ligada ao X/genética Curcumina/análogos & derivados Proteínas de Ligação a DNA/genética Proteínas de Drosophila/genética Transtornos Musculares Atróficos/genética Fator 1 Relacionado a NF-E2/genética Fator 2 Relacionado a NF-E2/genética Receptores Androgênicos/genética Fatores de Transcrição/genética Expansão das Repetições de Trinucleotídeos/genética [Mh] Termos MeSH secundário: Animais Atrofia Bulboespinal Ligada ao X/tratamento farmacológico Atrofia Bulboespinal Ligada ao X/patologia Curcumina/administração & dosagem Curcumina/química Modelos Animais de Doenças Drosophila melanogaster/genética Técnicas de Silenciamento de Genes Fatores de Transcrição de Choque Térmico Seres Humanos Camundongos Transtornos Musculares Atróficos/tratamento farmacológico Transtornos Musculares Atróficos/patologia Estresse Oxidativo/efeitos dos fármacos Peptídeos/genética Complexo de Endopeptidases do Proteassoma/efeitos dos fármacos Agregação Patológica de Proteínas/genética Dobramento de Proteína/efeitos dos fármacos Transdução de Sinais/efeitos dos fármacos Bibliotecas de Moléculas Pequenas/administração & dosagem [Pt] Tipo de publicação: JOURNAL ARTICLE [Nm] Nome de substância: 0 (AR protein, human); 0 (ASC-JM17); 0 (DNA-Binding Proteins); 0 (Drosophila Proteins); 0 (Heat Shock Transcription Factors); 0 (Hsf protein, Drosophila); 0 (NF-E2-Related Factor 1); 0 (NF-E2-Related Factor 2); 0 (Peptides); 0 (Receptors, Androgen); 0 (Small Molecule Libraries); 0 (Transcription Factors); 26700-71-0 (polyglutamine); EC 3.4.25.1 (Proteasome Endopeptidase Complex); IT942ZTH98 (Curcumin) [Em] Mês de entrada: 1707 [Cu] Atualização por classe: 171116 [Lr] Data última revisão: 171116 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 160311 [St] Status: MEDLINE

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[PMID]: 26875173 [Au] Autor: Pennuto M; Gozes I [Ad] Endereço: Dulbecco Telethon Institute Lab of Neurodegenerative Diseases, Centre for Integrative Biology (CIBIO), University of Trento, Via Sommarive 9, 38123, Trento, Italy. MPennuto@Dti.Telethon.it. [Ti] Título: Introduction to the Special Issue on Spinal and Bulbar Muscular Atrophy. [So] Source: J Mol Neurosci;58(3):313-6, 2016 Mar. [Is] ISSN: 1559-1166 [Cp] País de publicação: United States [La] Idioma: eng [Ab] Resumo: This special issue is dedicated to spinal and bulbar muscular atrophy (SBMA) and is based on the conference sponsored by the European Neuromuscular Centre (ENMC) held in March 2015. SBMA, also known as Kennedy's disease, is a neurodegenerative disease caused by an expansion of a repeat of the trinucleotide CAG encoding glutamine in the gene encoding androgen receptor (AR). Expansion of polyglutamine in the AR results in selective lower motor neuron degeneration and skeletal muscle atrophy. SBMA belongs to the family of polyglutamine diseases, which also includes Huntington's disease, dentatorubral-pallidoluysian atrophy, and spinocerebellar ataxia (SCA) types 1, 2, 3, 6, 7, and 17. Within the family of polyglutamine diseases, SBMA is unique in its gender-specificity, with full disease manifestation restricted to males. Since the disease is ligand (androgen)-dependent, SBMA manifests primarily in males which have high levels of circulating androgens in the serum; females are usually asymptomatic. Indeed, the polyglutamine-expanded AR is converted to a neurotoxic species upon binding to androgens. The mechanisms through which androgen binding triggers the disease are under investigation. Although several therapeutic strategies have been proposed to date, there is currently no effective therapy to arrest or delay disease progression in patients. [Mh] Termos MeSH primário: Atrofia Bulboespinal Ligada ao X/etiologia [Mh] Termos MeSH secundário: Atrofia Bulboespinal Ligada ao X/diagnóstico Atrofia Bulboespinal Ligada ao X/metabolismo Atrofia Bulboespinal Ligada ao X/terapia Seres Humanos [Pt] Tipo de publicação: EDITORIAL; INTRODUCTORY JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T [Em] Mês de entrada: 1612 [Cu] Atualização por classe: 171108 [Lr] Data última revisão: 171108 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 160215 [St] Status: MEDLINE [do] DOI: 10.1007/s12031-016-0720-0

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[PMID]: 26618536 [Au] Autor: Yuan M; Chen W; Zhou H; Xiao Z; Wang W; Wang W; Yin X; Xu L [Ad] Endereço: Department of Neurology, The Second Affiliated Hospital of Nanchang University, Nanchang, China. [Ti] Título: Kennedy Disease Misdiagnosed as Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal Gammopathy, and Skin Changes (POEMS) Syndrome: A Case Report. [So] Source: Med Princ Pract;25(3):286-9, 2016. [Is] ISSN: 1423-0151 [Cp] País de publicação: Switzerland [La] Idioma: eng [Ab] Resumo: OBJECTIVE: The aim of this paper was to report the first case of Kennedy disease misdiagnosed as polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes (POEMS) syndrome. CLINICAL PRESENTATION AND INTERVENTION: A 58-year-old Chinese man presented with limb numbness, progressive limb proximal weakness, lymph node and thyroid enlargement, edema, pigmentation in the lower limb, and obvious gynecomastia, which was initially diagnosed as POEMS syndrome and was treated with dexamethasone and small doses of cyclophosphamide without any improvement after 6 months. Finally, the patient diagnosis was confirmed as Kennedy disease (KD) by gene analysis. CONCLUSION: This case suggests that clinicians should pay more attention to the differential diagnosis between KD and POEMS syndrome. Gene analysis was helpful in detecting this rare confusing disease in this patient. [Mh] Termos MeSH primário: Atrofia Bulboespinal Ligada ao X/diagnóstico Síndrome POEMS/diagnóstico [Mh] Termos MeSH secundário: Grupo com Ancestrais do Continente Asiático China Diagnóstico Diferencial Seres Humanos Masculino [Pt] Tipo de publicação: CASE REPORTS; JOURNAL ARTICLE [Em] Mês de entrada: 1701 [Cu] Atualização por classe: 171102 [Lr] Data última revisão: 171102 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 151201 [St] Status: MEDLINE [do] DOI: 10.1159/000442822

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[PMID]: 26614347 [Au] Autor: Pennuto M; Basso M [Ad] Endereço: Dulbecco Telethon Institute Lab of Neurodegenerative Diseases, Centre for Integrative Biology (CIBIO), University of Trento, Via Sommarive 9, 38123, Trento, Italy. MPennuto@Dti.Telethon.it. [Ti] Título: In Vitro and In Vivo Modeling of Spinal and Bulbar Muscular Atrophy. [So] Source: J Mol Neurosci;58(3):365-73, 2016 Mar. [Is] ISSN: 1559-1166 [Cp] País de publicação: United States [La] Idioma: eng [Ab] Resumo: Spinal and bulbar muscular atrophy (SBMA) is an X-linked neuromuscular disease characterized by late-onset, progressive degeneration of lower motor neurons and skeletal muscle atrophy. SBMA is caused by expansions of a CAG trinucleotide repeat in the gene encoding the androgen receptor (AR). One striking feature of SBMA is sex specificity: SBMA fully manifests only in males, whereas females show subclinical or mild disease manifestations even when homozygous for the mutation. Since the identification of the mutation responsible for SBMA in 1991, several cell and animal models have been developed to recapitulate the main features of disease in vitro and in vivo. In this review, we describe the most widely used cellular and animal models of SBMA, highlighting advantages and disadvantages in the use of these models to gain mechanistic and therapeutic insights into SBMA. [Mh] Termos MeSH primário: Atrofia Bulboespinal Ligada ao X/genética Modelos Animais de Doenças Receptores Androgênicos/genética Expansão das Repetições de Trinucleotídeos [Mh] Termos MeSH secundário: Animais Atrofia Bulboespinal Ligada ao X/metabolismo Atrofia Bulboespinal Ligada ao X/patologia Feminino Seres Humanos Masculino Peptídeos/genética Cultura Primária de Células/métodos [Pt] Tipo de publicação: JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T; REVIEW [Nm] Nome de substância: 0 (Peptides); 0 (Receptors, Androgen); 26700-71-0 (polyglutamine) [Em] Mês de entrada: 1612 [Cu] Atualização por classe: 171108 [Lr] Data última revisão: 171108 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 151129 [St] Status: MEDLINE [do] DOI: 10.1007/s12031-015-0677-4

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[PMID]: 26585990 [Au] Autor: Dahlqvist JR; Vissing J [Ad] Endereço: Copenhagen Neuromuscular Center, Section 3342, Department of Neurology, Rigshospitalet, University of Copenhagen, Blegdamsvej 9, 2100, Copenhagen, Denmark. julia.rebecka.dahlqvist@regionh.dk. [Ti] Título: Exercise Therapy in Spinobulbar Muscular Atrophy and Other Neuromuscular Disorders. [So] Source: J Mol Neurosci;58(3):388-93, 2016 Mar. [Is] ISSN: 1559-1166 [Cp] País de publicação: United States [La] Idioma: eng [Ab] Resumo: There is no curative treatment for most neuromuscular disorders. Exercise, as a treatment for these diseases, has therefore received growing attention. When executed properly, exercise can maintain and improve health and reduce the risk of cardiovascular disease, obesity, and diabetes. In persons with muscle wasting due to neuromuscular conditions, however, a common belief has been that physical activity could accelerate degeneration of the diseased muscle and a careful approach to training has therefore been suggested. In this review, we describe the current knowledge about physical training in patients with neuromuscular diseases associated with weakness and wasting. We review studies that have investigated different types of exercise in both myopathies and motor neuron diseases, with particular emphasis on training of persons affected by spinobulbar muscular atrophy (SBMA). Finally, we provide suggestions for future investigations of training in this condition. [Mh] Termos MeSH primário: Atrofia Bulboespinal Ligada ao X/terapia Terapia por Exercício [Mh] Termos MeSH secundário: Atrofia Bulboespinal Ligada ao X/fisiopatologia Ensaios Clínicos como Assunto Seres Humanos Neurônios Motores/fisiologia Músculo Esquelético/inervação Músculo Esquelético/fisiopatologia [Pt] Tipo de publicação: JOURNAL ARTICLE; REVIEW [Em] Mês de entrada: 1612 [Cu] Atualização por classe: 171108 [Lr] Data última revisão: 171108 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 151121 [St] Status: MEDLINE [do] DOI: 10.1007/s12031-015-0686-3

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[PMID]: 26576772 [Au] Autor: Rinaldi C; Malik B; Greensmith L [Ad] Endereço: Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, OX1 3QX, UK. carlo.rinaldi@dpag.ox.ac.uk. [Ti] Título: Targeted Molecular Therapies for SBMA. [So] Source: J Mol Neurosci;58(3):335-42, 2016 Mar. [Is] ISSN: 1559-1166 [Cp] País de publicação: United States [La] Idioma: eng [Ab] Resumo: Spinal and bulbar muscular atrophy (SBMA) is a late-onset neuromuscular disease caused by a polyglutamine expansion in the androgen receptor gene which results in progressive spinal and bulbar motor neuron degeneration, and muscle atrophy. Although the causative genetic defect is known, until recently, the molecular pathogenesis of the disease was unclear, resulting in few, if any, targets for therapy development. However, over the past decade, our understanding of the pathomechanisms that play a role in SBMA has increased dramatically, and several of these pathways and mechanisms have now been investigated as possible therapeutic targets. In this review, we discuss some of the key pathomechanisms implicated in SBMA and describe some of the therapeutic strategies that have been tested in SBMA to date, which fall into four main categories: (i) gene silencing; (ii) protein quality control and/or increased protein degradation; (iii) androgen deprivation; and (iv) modulation of AR function. Finally, it is also now clear that in addition to a greater understanding of the molecular mechanisms that underlie disease, the development of an effective disease modifying therapy for SBMA will require the coordinated, collaborative effort of research teams with diverse areas of expertise, clinicians, pharmaceutical companies as well as patient groups. [Mh] Termos MeSH primário: Atrofia Bulboespinal Ligada ao X/terapia Terapia Genética/métodos Terapia de Alvo Molecular/métodos Receptores Androgênicos/genética [Mh] Termos MeSH secundário: Animais Atrofia Bulboespinal Ligada ao X/genética Seres Humanos Receptores Androgênicos/metabolismo [Pt] Tipo de publicação: JOURNAL ARTICLE; REVIEW [Nm] Nome de substância: 0 (Receptors, Androgen) [Em] Mês de entrada: 1612 [Cu] Atualização por classe: 171108 [Lr] Data última revisão: 171108 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 151119 [St] Status: MEDLINE [do] DOI: 10.1007/s12031-015-0676-5

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[PMID]: 26572537 [Au] Autor: Weydt P; Sagnelli A; Rosenbohm A; Fratta P; Pradat PF; Ludolph AC; Pareyson D [Ad] Endereço: Clinic of Neurology, Ulm University, Ulm, 89081, Germany. patrick.weydt@uni-ulm.de. [Ti] Título: Clinical Trials in Spinal and Bulbar Muscular Atrophy-Past, Present, and Future. [So] Source: J Mol Neurosci;58(3):379-87, 2016 Mar. [Is] ISSN: 1559-1166 [Cp] País de publicação: United States [La] Idioma: eng [Ab] Resumo: Spinal and Bulbar Muscular Atrophy (SBMA), also known as Kennedy's disease, is a rare adult-onset lower motor neuron disorder with a classic X-linked inheritance pattern. It is caused by the abnormal expansion of the CAG-repeat tract in the androgen receptor gene. Despite important progress in the understanding of the molecular pathogenesis and the availability of a broad set of model organisms, successful translation of these insights into clinical interventions remains elusive. Here we review the available information on clinical trials in SBMA and discuss the challenges and pitfalls that impede therapy development. Two important factors are the variability of the complex neuro-endocrinological phenotype and the comparatively low incidence of the disease that renders recruitment for clinical trials demanding. We propose that these challenges can be and need to be overcome by fostering closer collaborations between clinical research centers, the patient communities and the industry and non-industry sponsors of clinical trials. [Mh] Termos MeSH primário: Atrofia Bulboespinal Ligada ao X/tratamento farmacológico Ensaios Clínicos como Assunto/métodos [Mh] Termos MeSH secundário: Antagonistas de Androgênios/efeitos adversos Antagonistas de Androgênios/uso terapêutico Ensaios Clínicos como Assunto/normas Seres Humanos Fármacos Neuromusculares/efeitos adversos Fármacos Neuromusculares/uso terapêutico [Pt] Tipo de publicação: JOURNAL ARTICLE; REVIEW [Nm] Nome de substância: 0 (Androgen Antagonists); 0 (Neuromuscular Agents) [Em] Mês de entrada: 1612 [Cu] Atualização por classe: 171108 [Lr] Data última revisão: 171108 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 151118 [St] Status: MEDLINE [do] DOI: 10.1007/s12031-015-0682-7

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[PMID]: 26572535 [Au] Autor: Rusmini P; Crippa V; Cristofani R; Rinaldi C; Cicardi ME; Galbiati M; Carra S; Malik B; Greensmith L; Poletti A [Ad] Endereço: Dipartimento di Scienze Farmacologiche e Biomolecolari (DiSFeB), Centro di Eccellenza sulle Malattie Neurodegenerative, Università degli Studi di Milano, Via Balzaretti 9, 20133, Milan, Italy. [Ti] Título: The Role of the Protein Quality Control System in SBMA. [So] Source: J Mol Neurosci;58(3):348-64, 2016 Mar. [Is] ISSN: 1559-1166 [Cp] País de publicação: United States [La] Idioma: eng [Ab] Resumo: Spinal and bulbar muscular atrophy (SBMA) or Kennedy's disease is an X-linked disease associated with the expansion of the CAG triplet repeat present in exon 1 of the androgen receptor (AR) gene. This results in the production of a mutant AR containing an elongated polyglutamine tract (polyQ) in its N-terminus. Interestingly, the ARpolyQ becomes toxic only after its activation by the natural androgenic ligands, possibly because of aberrant androgen-induced conformational changes of the ARpolyQ, which generate misfolded species. These misfolded ARpolyQ species must be cleared from motoneurons and muscle cells, and this process is mediated by the protein quality control (PQC) system. Experimental evidence suggested that failure of the PQC pathways occurs in disease, leading to ARpolyQ accumulation and toxicity in the target cells. In this review, we summarized the overall impact of mutant and misfolded ARpolyQ on the PQC system and described how molecular chaperones and the degradative pathways (ubiquitin-proteasome system (UPS), the autophagy-lysosome pathway (ALP), and the unfolded protein response (UPR), which activates the endoplasmic reticulum-associated degradation (ERAD)) are differentially affected in SBMA. We also extensively and critically reviewed several molecular and pharmacological approaches proposed to restore a global intracellular activity of the PQC system. Collectively, these data suggest that the fine and delicate equilibrium existing among the different players of the PQC system could be restored in a therapeutic perspective by the synergic/additive activities of compounds designed to tackle sequential or alternative steps of the intracellular defense mechanisms triggered against proteotoxic misfolded species. [Mh] Termos MeSH primário: Atrofia Bulboespinal Ligada ao X/metabolismo Receptores Androgênicos/metabolismo Resposta a Proteínas não Dobradas [Mh] Termos MeSH secundário: Animais Atrofia Bulboespinal Ligada ao X/genética Seres Humanos Peptídeos/química Receptores Androgênicos/química Receptores Androgênicos/genética Expansão das Repetições de Trinucleotídeos [Pt] Tipo de publicação: JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T; REVIEW [Nm] Nome de substância: 0 (Peptides); 0 (Receptors, Androgen); 26700-71-0 (polyglutamine) [Em] Mês de entrada: 1612 [Cu] Atualização por classe: 171108 [Lr] Data última revisão: 171108 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 151118 [St] Status: MEDLINE [do] DOI: 10.1007/s12031-015-0675-6

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[PMID]: 26572533 [Au] Autor: Jokela ME; Udd B [Ad] Endereço: Division of Clinical Neurosciences, Turku University Hospital, and University of Turku, Kiinamyllynkatu 4-8, 20520, Turku, Finland. mejoke@utu.fi. [Ti] Título: Diagnostic Clinical, Electrodiagnostic and Muscle Pathology Features of Spinal and Bulbar Muscular Atrophy. [So] Source: J Mol Neurosci;58(3):330-4, 2016 Mar. [Is] ISSN: 1559-1166 [Cp] País de publicação: United States [La] Idioma: eng [Ab] Resumo: Kennedy's disease or spinal and bulbar muscular atrophy (SBMA) is a multi-system disorder affecting adult males, which is characterized by weakness of limbs and faciobulbar muscles primarily due to loss of lower motor neurons. Besides the obvious motor neuronopathy, additional findings in a substantial proportion of SBMA patients include sensory neuropathy and signs of androgen deficiency, such as poor sexual functioning and reduced fertility with gynaecomastia. The presence of elevated glucose, liver pathology or dyslipidaemia is less consistent features. We review the striking clinical, electrodiagnostic and muscle pathology features characteristic of Kennedy's disease, which has some peculiar and diagnostically useful features not observed in many other neuromuscular disorders. [Mh] Termos MeSH primário: Atrofia Bulboespinal Ligada ao X/diagnóstico [Mh] Termos MeSH secundário: Androgênios/metabolismo Atrofia Bulboespinal Ligada ao X/metabolismo Atrofia Bulboespinal Ligada ao X/fisiopatologia Seres Humanos Masculino Músculo Esquelético/patologia Músculo Esquelético/fisiopatologia Exame Neurológico [Pt] Tipo de publicação: JOURNAL ARTICLE; REVIEW [Nm] Nome de substância: 0 (Androgens) [Em] Mês de entrada: 1612 [Cu] Atualização por classe: 171108 [Lr] Data última revisão: 171108 [Sb] Subgrupo de revista: IM [Da] Data de entrada para processamento: 151118 [St] Status: MEDLINE [do] DOI: 10.1007/s12031-015-0684-5

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