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[PMID]:28542381
[Au] Autor:Totenhagen JW; Bernstein A; Yoshimaru ES; Erickson RP; Trouard TP
[Ad] Endereço:Biomedical Engineering Program, University of Arizona, Tucson, Arizona, United States of America.
[Ti] Título:Quantitative magnetic resonance imaging of brain atrophy in a mouse model of Niemann-Pick type C disease.
[So] Source:PLoS One;12(5):e0178179, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:In vivo magnetic resonance imaging (MRI) was used to investigate regional and global brain atrophy in the neurodegenerative Niemann Pick Type C1 (NPC1) disease mouse model. Imaging experiments were conducted with the most commonly studied mouse model of NPC1 disease at early and late disease states. High-resolution in vivo images were acquired at early and late stages of the disease and analyzed with atlas-based registration to obtain measurements of twenty brain region volumes. A two-way ANOVA analysis indicated eighteen of these regions were different due to genotype and thirteen showed a significant interaction with age and genotype. The ability to measure in vivo neurodegeneration evidenced by brain atrophy adds to the ability to monitor disease progression and treatment response in the mouse model.
[Mh] Termos MeSH primário: Encéfalo/diagnóstico por imagem
Doença de Niemann-Pick Tipo C/diagnóstico por imagem
[Mh] Termos MeSH secundário: Animais
Atrofia/diagnóstico por imagem
Atrofia/patologia
Encéfalo/patologia
Modelos Animais de Doenças
Transtornos Heredodegenerativos do Sistema Nervoso/diagnóstico por imagem
Transtornos Heredodegenerativos do Sistema Nervoso/patologia
Seres Humanos
Imagem por Ressonância Magnética
Camundongos
Camundongos Knockout
Neuroimagem
Doença de Niemann-Pick Tipo C/patologia
Proteínas/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Npc1 protein, mouse); 0 (Proteins)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170918
[Lr] Data última revisão:
170918
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170526
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0178179


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[PMID]:28339400
[Au] Autor:Anderson DG; Walker RH; Connor M; Carr J; Margolis RL; Krause A
[Ad] Endereço:The University of the Witwatersrand Donald Gordon Medical Centre, Neurology, Johannesburg, South Africa.
[Ti] Título:A Systematic Review of the Huntington Disease-Like 2 Phenotype.
[So] Source:J Huntingtons Dis;6(1):37-46, 2017.
[Is] ISSN:1879-6400
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Huntington Disease-like 2 (HDL2) is a neurodegenerative disorder similar to Huntington Disease (HD) in its clinical phenotype, genetic characteristics, neuropathology and longitudinal progression. Proposed specific differences include an exclusive African ancestry, lack of eye movement abnormalities, increased Parkinsonism, and acanthocytes in HDL2. OBJECTIVE: The objective was to determine the similarities and differences between HD and HDL2 by establishing the clinical phenotype of HDL2 with the published cases. METHODS: A literature review of all clinically described cases of HDL2 until the end of 2016 was performed and a descriptive analysis was carried out. RESULTS: Sixty-nine new cases were described between 2001 and 2016. All cases had likely African ancestry, and most were found in South Africa and the USA. Many features were found to be similar to HD, including a strong negative correlation between repeat length and age of onset. Chorea was noted in 48/57 cases (84%). Dementia was reported in 74% patients, and Parkinsonism in 37%. Psychiatric features were reported in 44 out of 47 cases. Patients with chorea had lower expanded repeat lengths compared to patients without chorea. Eye movements were described in 19 cases, 8 were abnormal. Acanthocytes were detected in 4 of the 13 patients tested. Nineteen out of 20 MRIs were reported as abnormal with findings similar to HD. CONCLUSION: This review clarifies some aspects of the HDL2 phenotype and highlights others which require further investigation. Features that are unique to HDL2 have been documented in a minority of subjects and require prospective validation.
[Mh] Termos MeSH primário: Coreia/genética
Coreia/fisiopatologia
Transtornos Cognitivos/genética
Transtornos Cognitivos/fisiopatologia
Demência/genética
Demência/fisiopatologia
Transtornos Heredodegenerativos do Sistema Nervoso/genética
Transtornos Heredodegenerativos do Sistema Nervoso/fisiopatologia
[Mh] Termos MeSH secundário: Coreia/diagnóstico por imagem
Transtornos Cognitivos/diagnóstico por imagem
Demência/diagnóstico por imagem
Transtornos Heredodegenerativos do Sistema Nervoso/diagnóstico por imagem
Seres Humanos
Doença de Huntington/diagnóstico por imagem
Doença de Huntington/genética
Doença de Huntington/fisiopatologia
Fenótipo
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171023
[Lr] Data última revisão:
171023
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170325
[St] Status:MEDLINE
[do] DOI:10.3233/JHD-160232


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[PMID]:28334956
[Au] Autor:Zollo M; Ahmed M; Ferrucci V; Salpietro V; Asadzadeh F; Carotenuto M; Maroofian R; Al-Amri A; Singh R; Scognamiglio I; Mojarrad M; Musella L; Duilio A; Di Somma A; Karaca E; Rajab A; Al-Khayat A; Mohan Mohapatra T; Eslahi A; Ashrafzadeh F; Rawlins LE; Prasad R; Gupta R; Kumari P; Srivastava M; Cozzolino F; Kumar Rai S; Monti M; Harlalka GV; Simpson MA; Rich P; Al-Salmi F; Patton MA; Chioza BA; Efthymiou S; Granata F; Di Rosa G; Wiethoff S; Borgione E; Scuderi C; Mankad K; Hanna MG; Pucci P; Houlden H; Lupski JR; Crosby AH; Baple EL
[Ad] Endereço:Dipartimento di Medicina Molecolare e Biotecnologie Mediche DMMBM, Università di Napoli Federico II, Via Sergio Pansini 5, Naples, 80131, Italy.
[Ti] Título:PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment.
[So] Source:Brain;140(4):940-952, 2017 Apr 01.
[Is] ISSN:1460-2156
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:PRUNE is a member of the DHH (Asp-His-His) phosphoesterase protein superfamily of molecules important for cell motility, and implicated in cancer progression. Here we investigated multiple families from Oman, India, Iran and Italy with individuals affected by a new autosomal recessive neurodevelopmental and degenerative disorder in which the cardinal features include primary microcephaly and profound global developmental delay. Our genetic studies identified biallelic mutations of PRUNE1 as responsible. Our functional assays of disease-associated variant alleles revealed impaired microtubule polymerization, as well as cell migration and proliferation properties, of mutant PRUNE. Additionally, our studies also highlight a potential new role for PRUNE during microtubule polymerization, which is essential for the cytoskeletal rearrangements that occur during cellular division and proliferation. Together these studies define PRUNE as a molecule fundamental for normal human cortical development and define cellular and clinical consequences associated with PRUNE mutation.
[Mh] Termos MeSH primário: Encéfalo/crescimento & desenvolvimento
Proteínas de Transporte/genética
Deficiências do Desenvolvimento/genética
Microcefalia/genética
[Mh] Termos MeSH secundário: Adolescente
Diferenciação Celular/genética
Movimento Celular/genética
Córtex Cerebral/crescimento & desenvolvimento
Criança
Pré-Escolar
Citoesqueleto/genética
Citoesqueleto/ultraestrutura
Feminino
Genes Recessivos
Transtornos Heredodegenerativos do Sistema Nervoso/genética
Seres Humanos
Lactente
Masculino
Microtúbulos/genética
Microtúbulos/ultraestrutura
Mutação/genética
Linhagem
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Carrier Proteins); 0 (PRUNE protein, human)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170610
[Lr] Data última revisão:
170610
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170324
[St] Status:MEDLINE
[do] DOI:10.1093/brain/awx014


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[PMID]:28334843
[Au] Autor:Lopez A; Lee SE; Wojta K; Ramos EM; Klein E; Chen J; Boxer AL; Gorno-Tempini ML; Geschwind DH; Schlotawa L; Ogryzko NV; Bigio EH; Rogalski E; Weintraub S; Mesulam MM; Fleming A; Coppola G; Miller BL; Rubinsztein DC; Tauopathy Genetics Consortium
[Ad] Endereço:Department of Medical Genetics, University of Cambridge, Cambridge Institute for Medical Research, Addenbrooke's Hospital, Hills Road, Cambridge, CB2 0XY, UK.
[Ti] Título:A152T tau allele causes neurodegeneration that can be ameliorated in a zebrafish model by autophagy induction.
[So] Source:Brain;140(4):1128-1146, 2017 Apr 01.
[Is] ISSN:1460-2156
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Mutations in the gene encoding tau (MAPT) cause frontotemporal dementia spectrum disorders. A rare tau variant p.A152T was reported as a risk factor for frontotemporal dementia spectrum and Alzheimer's disease in an initial case-control study. Such findings need replication in an independent cohort. We analysed an independent multinational cohort comprising 3100 patients with neurodegenerative disease and 4351 healthy control subjects and found p.A152T associated with significantly higher risk for clinically defined frontotemporal dementia and progressive supranuclear palsy syndrome. To assess the functional and biochemical consequences of this variant, we generated transgenic zebrafish models expressing wild-type or A152T-tau, where A152T caused neurodegeneration and proteasome compromise. Impaired proteasome activity may also enhance accumulation of other proteins associated with this variant. We increased A152T clearance kinetics by both pharmacological and genetic upregulation of autophagy and ameliorated the disease pathology observed in A152T-tau fish. Thus, autophagy-upregulating therapies may be a strategy for the treatment for tauopathies.
[Mh] Termos MeSH primário: Autofagia
Transtornos Heredodegenerativos do Sistema Nervoso/genética
Transtornos Heredodegenerativos do Sistema Nervoso/terapia
Paralisia Supranuclear Progressiva/genética
Paralisia Supranuclear Progressiva/terapia
Tauopatias/genética
Tauopatias/terapia
Peixe-Zebra
Proteínas tau/genética
[Mh] Termos MeSH secundário: Alelos
Animais
Proteína 5 Relacionada à Autofagia
Comportamento Animal
Modelos Animais de Doenças
Embrião não Mamífero
Demência Frontotemporal/genética
Seres Humanos
Cinética
Polimorfismo de Nucleotídeo Único
Complexo de Endopeptidases do Proteassoma/genética
RNA/biossíntese
RNA/genética
Tauopatias/psicologia
Proteínas de Peixe-Zebra
Proteínas tau/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Atg5 protein, zebrafish); 0 (Autophagy-Related Protein 5); 0 (Zebrafish Proteins); 0 (tau Proteins); 63231-63-0 (RNA); EC 3.4.25.1 (Proteasome Endopeptidase Complex)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170527
[Lr] Data última revisão:
170527
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170324
[St] Status:MEDLINE
[do] DOI:10.1093/brain/awx005


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[PMID]:28131164
[Au] Autor:Vasconcellos LF; Macêdo PJ; Franck JB; Tumas V; Marques Júnior W; Spitz M
[Ad] Endereço:Hospital Federal dos Servidores do Estado, Rio de Janeiro, Brazil; Institute of Neurology, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil. Electronic address: luizneurol@terra.com.br.
[Ti] Título:Huntington's Disease like 2 presenting with isolated Parkinsonism.
[So] Source:J Neurol Sci;373:105-106, 2017 Feb 15.
[Is] ISSN:1878-5883
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Mh] Termos MeSH primário: Coreia/complicações
Coreia/diagnóstico
Transtornos Cognitivos/complicações
Transtornos Cognitivos/diagnóstico
Demência/complicações
Demência/diagnóstico
Transtornos Heredodegenerativos do Sistema Nervoso/complicações
Transtornos Heredodegenerativos do Sistema Nervoso/diagnóstico
Transtornos Parkinsonianos/diagnóstico
Transtornos Parkinsonianos/etiologia
[Mh] Termos MeSH secundário: Adulto
Grupo com Ancestrais do Continente Africano/genética
Coreia/genética
Coreia/fisiopatologia
Transtornos Cognitivos/genética
Transtornos Cognitivos/fisiopatologia
Demência/genética
Demência/fisiopatologia
Diagnóstico Diferencial
Transtornos Heredodegenerativos do Sistema Nervoso/genética
Transtornos Heredodegenerativos do Sistema Nervoso/fisiopatologia
Seres Humanos
Masculino
Transtornos Parkinsonianos/genética
Transtornos Parkinsonianos/fisiopatologia
Linhagem
Fenótipo
[Pt] Tipo de publicação:CASE REPORTS; LETTER
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170817
[Lr] Data última revisão:
170817
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170130
[St] Status:MEDLINE


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[PMID]:27709457
[Au] Autor:Scott EY; Penedo MC; Murray JD; Finno CJ
[Ad] Endereço:Department of Animal Science, University of California, Davis, USA.
[Ti] Título:Defining Trends in Global Gene Expression in Arabian Horses with Cerebellar Abiotrophy.
[So] Source:Cerebellum;16(2):462-472, 2017 Apr.
[Is] ISSN:1473-4230
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Equine cerebellar abiotrophy (CA) is a hereditary neurodegenerative disease that affects the Purkinje neurons of the cerebellum and causes ataxia in Arabian foals. Signs of CA are typically first recognized either at birth to any time up to 6 months of age. CA is inherited as an autosomal recessive trait and is associated with a single nucleotide polymorphism (SNP) on equine chromosome 2 (13074277G>A), located in the fourth exon of TOE1 and in proximity to MUTYH on the antisense strand. We hypothesize that unraveling the functional consequences of the CA SNP using RNA-seq will elucidate the molecular pathways underlying the CA phenotype. RNA-seq (100 bp PE strand-specific) was performed in cerebellar tissue from four CA-affected and five age-matched unaffected horses. Three pipelines for differential gene expression (DE) analysis were used (Tophat2/Cuffdiff2, Kallisto/EdgeR, and Kallisto/Sleuth) with 151 significant DE genes identified by all three pipelines in CA-affected horses. TOE1 (Log (foldchange) = 0.92, p = 0.66) and MUTYH (Log (foldchange) = 1.13, p = 0.66) were not differentially expressed. Among the major pathways that were differentially expressed, genes associated with calcium homeostasis and specifically expressed in Purkinje neurons, CALB1 (Log (foldchange) = -1.7, p < 0.01) and CA8 (Log (foldchange) = -0.97, p < 0.01), were significantly down-regulated, confirming loss of Purkinje neurons. There was also a significant up-regulation of markers for microglial phagocytosis, TYROBP (Log (foldchange) = 1.99, p < 0.01) and TREM2 (Log (foldchange) = 2.02, p < 0.01). These findings reaffirm a loss of Purkinje neurons in CA-affected horses along with a potential secondary loss of granular neurons and activation of microglial cells.
[Mh] Termos MeSH primário: Cerebelo/metabolismo
Transtornos Heredodegenerativos do Sistema Nervoso/veterinária
Doenças dos Cavalos/genética
Transcriptoma
[Mh] Termos MeSH secundário: Animais
Cerebelo/crescimento & desenvolvimento
Análise por Conglomerados
DNA Glicosilases/genética
DNA Glicosilases/metabolismo
Feminino
Expressão Gênica
Transtornos Heredodegenerativos do Sistema Nervoso/genética
Transtornos Heredodegenerativos do Sistema Nervoso/metabolismo
Doenças dos Cavalos/metabolismo
Cavalos
Masculino
Reação em Cadeia da Polimerase
Polimorfismo de Nucleotídeo Único
Aprendizado de Máquina não Supervisionado
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 3.2.2.- (DNA Glycosylases); EC 3.2.2.- (mutY adenine glycosylase)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170922
[Lr] Data última revisão:
170922
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161007
[St] Status:MEDLINE
[do] DOI:10.1007/s12311-016-0823-8


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[PMID]:27470939
[Au] Autor:Jiang B; Glover JN; Weinfeld M
[Ad] Endereço:Department of Oncology, University of Alberta, Cross Cancer Institute, 11560 University Avenue, Edmonton, Alberta, T6G 1Z2, Canada. Electronic address: bj@ualberta.ca.
[Ti] Título:Neurological disorders associated with DNA strand-break processing enzymes.
[So] Source:Mech Ageing Dev;161(Pt A):130-140, 2017 Jan.
[Is] ISSN:1872-6216
[Cp] País de publicação:Ireland
[La] Idioma:eng
[Ab] Resumo:The termini of DNA strand breaks induced by reactive oxygen species or by abortive DNA metabolic intermediates require processing to enable subsequent gap filling and ligation to proceed. The three proteins, tyrosyl DNA-phosphodiesterase 1 (TDP1), aprataxin (APTX) and polynucleotide kinase/phosphatase (PNKP) each act on a discrete set of modified strand-break termini. Recently, a series of neurodegenerative and neurodevelopmental disorders have been associated with mutations in the genes coding for these proteins. Mutations in TDP1 and APTX have been linked to Spinocerebellar ataxia with axonal neuropathy (SCAN1) and Ataxia-ocular motor apraxia 1 (AOA1), respectively, while mutations in PNKP are considered to be responsible for Microcephaly with seizures (MCSZ) and Ataxia-ocular motor apraxia 4 (AOA4). Here we present an overview of the mechanisms of these proteins and how their impairment may give rise to their respective disorders.
[Mh] Termos MeSH primário: Quebras de DNA de Cadeia Dupla
Enzimas Reparadoras do DNA
Proteínas de Ligação a DNA
Transtornos Heredodegenerativos do Sistema Nervoso
Mutação
Transtornos do Neurodesenvolvimento
Proteínas Nucleares
Diester Fosfórico Hidrolases
Fosfotransferases (Aceptor do Grupo Álcool)
[Mh] Termos MeSH secundário: Enzimas Reparadoras do DNA/genética
Enzimas Reparadoras do DNA/metabolismo
Proteínas de Ligação a DNA/genética
Proteínas de Ligação a DNA/metabolismo
Transtornos Heredodegenerativos do Sistema Nervoso/genética
Transtornos Heredodegenerativos do Sistema Nervoso/metabolismo
Seres Humanos
Transtornos do Neurodesenvolvimento/genética
Transtornos do Neurodesenvolvimento/metabolismo
Proteínas Nucleares/genética
Proteínas Nucleares/metabolismo
Diester Fosfórico Hidrolases/genética
Diester Fosfórico Hidrolases/metabolismo
Fosfotransferases (Aceptor do Grupo Álcool)/genética
Fosfotransferases (Aceptor do Grupo Álcool)/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (APTX protein, human); 0 (DNA-Binding Proteins); 0 (Nuclear Proteins); EC 2.7.1.- (PNKP protein, human); EC 2.7.1.- (Phosphotransferases (Alcohol Group Acceptor)); EC 3.1.4.- (Phosphoric Diester Hydrolases); EC 3.1.4.- (TDP1 protein, human); EC 6.5.1.- (DNA Repair Enzymes)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170807
[Lr] Data última revisão:
170807
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160730
[St] Status:MEDLINE


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[PMID]:28209105
[Au] Autor:Bitting CP; Hanson JA
[Ti] Título:Navajo Neurohepatopathy : A Case Report and Literature Review Emphasizing Clinicopathologic Diagnosis.
[So] Source:Acta Gastroenterol Belg;79(4):463-469, 2016 Sep-Dec.
[Is] ISSN:1784-3227
[Cp] País de publicação:Belgium
[La] Idioma:eng
[Ab] Resumo:Navajo Neurohepatopathy (NNH) is a rare hepatocerebral mitochondrial DNA (mtDNA) depletion syndrome (MDS) with nonspecific clinical or pathologic features aside from Navajo ancestry. Because of the rarity of NNH, diagnosis rests on close clinicopathologic correlation and appropriate tissue triage for quantitative mtDNA analysis. We present a new case of NNH in which the clinical presentation and H&E liver biopsy histology indicated the need for NNH workup. Quantitative analysis of mtDNA in liver tissue was significantly reduced, and mutational analysis of the MPV17 gene confirmed homozygosity for the NNH-associated missense mutation, R50Q. The patient is now one year post liver transplant and continues to have normal liver function tests but suffers multiple immunosuppression-associated co-morbidities. A comprehensive literature review is provided to assist in diagnosis and management of NNH. (Acta gastroenterol. belg., 2016, 79, 463-469).
[Mh] Termos MeSH primário: Insuficiência de Crescimento/diagnóstico
Transtornos Heredodegenerativos do Sistema Nervoso
Hepatopatias
Transplante de Fígado/métodos
Fígado/patologia
Proteínas de Membrana/genética
Doenças Mitocondriais
Proteínas Mitocondriais/genética
Doenças do Sistema Nervoso Periférico
[Mh] Termos MeSH secundário: Biópsia/métodos
Diagnóstico Diferencial
Gerenciamento Clínico
Insuficiência de Crescimento/etiologia
Transtornos Heredodegenerativos do Sistema Nervoso/diagnóstico
Transtornos Heredodegenerativos do Sistema Nervoso/genética
Transtornos Heredodegenerativos do Sistema Nervoso/fisiopatologia
Transtornos Heredodegenerativos do Sistema Nervoso/terapia
Seres Humanos
Recém-Nascido
Hepatopatias/diagnóstico
Hepatopatias/genética
Hepatopatias/fisiopatologia
Hepatopatias/terapia
Masculino
Doenças Mitocondriais/diagnóstico
Doenças Mitocondriais/genética
Doenças Mitocondriais/fisiopatologia
Doenças Mitocondriais/terapia
Mutação de Sentido Incorreto
Doenças do Sistema Nervoso Periférico/diagnóstico
Doenças do Sistema Nervoso Periférico/genética
Doenças do Sistema Nervoso Periférico/fisiopatologia
Doenças do Sistema Nervoso Periférico/terapia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (MPV17 protein, human); 0 (Membrane Proteins); 0 (Mitochondrial Proteins)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170403
[Lr] Data última revisão:
170403
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170218
[St] Status:MEDLINE


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[PMID]:28001265
[Au] Autor:Joaquim AF; Ghizoni E; Tedeschi H; Hsu WK; Patel AA
[Ad] Endereço:MD, PhD. Department of Neurology, Neurosurgery Division, Universidade Estadual de Campinas (Unicamp), Campinas, SP, Brazil.
[Ti] Título:Management of degenerative cervical myelopathy - An update.
[So] Source:Rev Assoc Med Bras (1992);62(9):886-894, 2016 Dec.
[Is] ISSN:1806-9282
[Cp] País de publicação:Brazil
[La] Idioma:eng
[Ab] Resumo:Introduction: Degenerative cervical myelopathy (DCM) is the most common cause of spinal cord dysfunction in adult patients. Patients generally present with a slow, progressive neurological decline or a stepwise deterioration pattern. In this paper, we discuss the most important factors involved in the management of DCM, including a discussion about the surgical approaches. Method: The authors performed an extensive review of the peer-reviewed literature addressing the aforementioned objectives. Results: Although the diagnosis is clinical, magnetic resonance imaging (MRI) is the study of choice to confirm stenosis and also to exclude the differential diagnosis. The severity the clinical symptoms of DCM are evaluated by different scales, but the modified Japanese Orthopedic Association (mJOA) and the Nürick scale are probably the most commonly used. Spontaneous clinical improvement is rare and surgery is the main treatment form in an attempt to prevent further neurological deterioration and, potentially, to provide some improvement in symptoms and function. Anterior, posterior or combined cervical approaches are used to decompress the spinal cord, with adjunctive fusion being commonly performed. The choice of one approach over the other depends on patient characteristics (such as number of involved levels, site of compression, cervical alignment, previous surgeries, bone quality, presence of instability, among others) as well as surgeon preference and experience. Conclusion: Spine surgeons must understand the advantages and disadvantages of all surgical techniques to choose the best procedure for their patients. Further comparative studies are necessary to establish the superiority of one approach over the other when multiple options are available.
[Mh] Termos MeSH primário: Transtornos Heredodegenerativos do Sistema Nervoso/cirurgia
Doenças da Medula Espinal/cirurgia
[Mh] Termos MeSH secundário: Vértebras Cervicais/cirurgia
Descompressão Cirúrgica/métodos
Transtornos Heredodegenerativos do Sistema Nervoso/diagnóstico
Seres Humanos
Laminectomia/métodos
Índice de Gravidade de Doença
Doenças da Medula Espinal/diagnóstico
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170721
[Lr] Data última revisão:
170721
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161222
[St] Status:MEDLINE


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[PMID]:27618835
[Au] Autor:Roussel BD; Lomas DA; Crowther DC
[Ad] Endereço:Wolfson Institute for Biomedical Research, UCL, London, UK, Inserm U919, GIP CYCERON, University Caen Basse Normandie, Caen, France.
[Ti] Título:Progressive myoclonus epilepsy associated with neuroserpin inclusion bodies (neuroserpinosis).
[So] Source:Epileptic Disord;18(S2):103-110, 2016 Sep 01.
[Is] ISSN:1950-6945
[Cp] País de publicação:France
[La] Idioma:eng
[Ab] Resumo:Familial encephalopathy with neuroserpin inclusion bodies (FENIB) is a conformational proteinopathy characterised by neuronal inclusion bodies composed of the serine protease inhibitor (SERPIN), neuroserpin. Presenting clinically as a familial dementia-epilepsy syndrome, the molecular mechanism of the pathogenic abnormalities in neuroserpin has been characterised at atomic resolution. There is a remarkable genotype-phenotype correlation between the degree of molecular destabilisation of the several variants of the neuroserpin protein, their propensity to self-associate and the age of onset of the dementia-epilepsy complex. As with other serpinopathies there appears to be a mix of cell-autonomous toxicity, due to neuronal accumulation of neuroserpin, and non-cell autonomous toxicity, caused by loss of protease inhibition, in this case the dysregulated protease is likely to be tissue plasminogen activator (tPA). FENIB should be considered in cases of progressive myoclonic epilepsy and dementia particularly where there is family history of neuropsychiatric disease.
[Mh] Termos MeSH primário: Epilepsias Mioclônicas/genética
Epilepsias Mioclônicas/fisiopatologia
Transtornos Heredodegenerativos do Sistema Nervoso/genética
Transtornos Heredodegenerativos do Sistema Nervoso/fisiopatologia
[Mh] Termos MeSH secundário: Seres Humanos
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170922
[Lr] Data última revisão:
170922
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160914
[St] Status:MEDLINE



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