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[PMID]:28976605
[Au] Autor:Manes M; Alberici A; Di Gregorio E; Boccone L; Premi E; Mitro N; Pasolini MP; Pani C; Paghera B; Perani D; Orsi L; Costanzi C; Ferrero M; Zoppo A; Tempia F; Caruso D; Grassi M; Padovani A; Brusco A; Borroni B
[Ad] Endereço:Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, Brescia.
[Ti] Título:Docosahexaenoic acid is a beneficial replacement treatment for spinocerebellar ataxia 38.
[So] Source:Ann Neurol;82(4):615-621, 2017 Oct.
[Is] ISSN:1531-8249
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: Spinocerebellar ataxia 38 (SCA38) is caused by mutations in the ELOVL5 gene, which encodes an elongase involved in the synthesis of polyunsaturated fatty acids, including docosahexaenoic acid (DHA). As a consequence, DHA is significantly reduced in the serum of SCA38 subjects. In the present study, we evaluated the safety of DHA supplementation, its efficacy for clinical symptoms, and changes of brain functional imaging in SCA38 patients. METHODS: We enrolled 10 SCA38 patients, and carried out a double-blind randomized placebo-controlled study for 16 weeks, followed by an open-label study with overall 40-week DHA treatment. At baseline and at follow-up visit, patients underwent standardized clinical assessment, brain 18-fluorodeoxyglucose positron emission tomography, electroneurography, and ELOVL5 expression analysis. RESULTS: After 16 weeks, we showed a significant pre-post clinical improvement in the DHA group versus placebo, using the Scale for the Assessment and Rating of Ataxia (SARA; mean difference [MD] = +2.70, 95% confidence interval [CI] = +0.13 to + 5.27, p = 0.042). At 40-week treatment, clinical improvement was found significant by both SARA (MD = +2.2, 95% CI = +0.93 to + 3.46, p = 0.008) and International Cooperative Ataxia Rating Scale (MD = +3.8, 95% CI = +1.39 to + 6.41, p = 0.02) scores; clinical data were corroborated by significant improvement of cerebellar hypometabolism (statistical parametric mapping analyses, false discovery rate corrected). We also showed a decreased expression of ELOVL5 in patients' blood at 40 weeks as compared to baseline. No side effect was recorded. INTERPRETATION: DHA supplementation is a safe and effective treatment for SCA38, showing an improvement of clinical symptoms and cerebellar hypometabolism. Ann Neurol 2017;82:615-621.
[Mh] Termos MeSH primário: Suplementos Nutricionais
Ácidos Docosa-Hexaenoicos/uso terapêutico
Ataxias Espinocerebelares/tratamento farmacológico
[Mh] Termos MeSH secundário: Adulto
Ataxinas/genética
Encéfalo/diagnóstico por imagem
Método Duplo-Cego
Eletromiografia
Feminino
Fluordesoxiglucose F18/farmacocinética
Seguimentos
Seres Humanos
Masculino
Meia-Idade
Mutação/genética
Avaliação de Resultados (Cuidados de Saúde)
Tomografia por Emissão de Pósitrons
Ataxias Espinocerebelares/diagnóstico por imagem
Ataxias Espinocerebelares/genética
Resultado do Tratamento
[Pt] Tipo de publicação:CLINICAL TRIAL, PHASE II; JOURNAL ARTICLE; RANDOMIZED CONTROLLED TRIAL
[Nm] Nome de substância:
0 (Ataxins); 0Z5B2CJX4D (Fluorodeoxyglucose F18); 25167-62-8 (Docosahexaenoic Acids)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171030
[Lr] Data última revisão:
171030
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171005
[St] Status:MEDLINE
[do] DOI:10.1002/ana.25059


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[PMID]:28216058
[Au] Autor:Montaut S; Apartis E; Chanson JB; Ewenczyk C; Renaud M; Guissart C; Muller J; Legrand AP; Durr A; Laugel V; Koenig M; Tranchant C; Anheim M
[Ad] Endereço:Département de Neurologie, Hôpital de Hautepierre, CHU de Strasbourg, Strasbourg, France; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Illkirch, France.
[Ti] Título:SCA13 causes dominantly inherited non-progressive myoclonus ataxia.
[So] Source:Parkinsonism Relat Disord;38:80-84, 2017 May.
[Is] ISSN:1873-5126
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:INTRODUCTION: Spinocerebellar ataxia 13 (SCA13) is a rare autosomal dominant cerebellar ataxia. To our knowledge, its association to movement disorders has never been described. We aimed at reporting 8 new SCA13 cases with a focus on movement disorders especially myoclonus. METHODS: We performed a detailed neurological examination and neurophysiological recording in 8 patients consecutively diagnosed with SCA13 between December 2013 and October 2015 and followed up in two French tertiary centers. RESULTS: We identified mild subcortical myoclonus in all patients, with a homogenous clinical and electrophysiological pattern. Myoclonus ataxia was very slowly progressive, like the other symptoms of the disease, whatever the age of onset. Patients with R423H mutation had an earlier age of onset than patients with R420H mutation. CONCLUSIONS: Myoclonus appears to be frequent in SCA13. SCA13 should be considered facing non-progressive autosomal dominant myoclonus ataxia, and polymyographic recording should be included in the diagnosis work.
[Mh] Termos MeSH primário: Ataxinas/genética
Mutação/genética
Mioclonia/etiologia
Ataxias Espinocerebelares/congênito
[Mh] Termos MeSH secundário: Adolescente
Adulto
Encéfalo/diagnóstico por imagem
Eletroencefalografia
Eletromiografia
Saúde da Família
Feminino
Seres Humanos
Masculino
Meia-Idade
Mioclonia/genética
Exame Neurológico
Ataxias Espinocerebelares/complicações
Ataxias Espinocerebelares/genética
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Ataxins)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170501
[Lr] Data última revisão:
170501
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170221
[St] Status:MEDLINE


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[PMID]:27220866
[Au] Autor:Sun YM; Lu C; Wu ZY
[Ad] Endereço:Department of Neurology and Institute of Neurology, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai, China.
[Ti] Título:Spinocerebellar ataxia: relationship between phenotype and genotype - a review.
[So] Source:Clin Genet;90(4):305-14, 2016 Oct.
[Is] ISSN:1399-0004
[Cp] País de publicação:Denmark
[La] Idioma:eng
[Ab] Resumo:Spinocerebellar ataxia (SCA) comprises a large group of heterogeneous neurodegenerative disorders inherited in an autosomal dominant fashion. It is characterized by progressive cerebellar ataxia with oculomotor dysfunction, dysarthria, pyramidal signs, extrapyramidal signs, pigmentary retinopathy, peripheral neuropathy, cognitive impairment and other symptoms. It is classified according to the clinical manifestations or genetic nosology. To date, 40 SCAs have been characterized, and include SCA1-40. The pathogenic genes of 28 SCAs were identified. In recent years, with the widespread clinical use of next-generation sequencing, the genes underlying SCAs, and the mutants as well as the affected phenotypes were identified. These advances elucidated the phenotype-genotype relationship in SCAs. We reviewed the recent clinical advances, genetic features and phenotype-genotype correlations involving each SCA and its differentiation. The heterogeneity of the disease and the genetic diagnosis might be attributed to the regional distribution and clinical characteristics. Therefore, recognition of the phenotype-genotype relationship facilitates genetic testing, prognosis and monitoring of symptoms.
[Mh] Termos MeSH primário: Estudos de Associação Genética
Ataxias Espinocerebelares/genética
[Mh] Termos MeSH secundário: Ataxinas/química
Ataxinas/genética
Diagnóstico Diferencial
Seres Humanos
Imagem por Ressonância Magnética
Mutação
Análise de Sequência de DNA
Ataxias Espinocerebelares/patologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Ataxins)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170724
[Lr] Data última revisão:
170724
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160526
[St] Status:MEDLINE
[do] DOI:10.1111/cge.12808


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[PMID]:26454745
[Au] Autor:Ramos A; Raposo M; Milà M; Bettencourt C; Houlden H; Cisneros B; Magaña JJ; Bettencourt BF; Bruges-Armas J; Santos C; Lima M
[Ad] Endereço:Department of Biology/CIRN, University of the Azores, Rua da Mãe de Deus - Apartado 1422, 9501-801, Ponta Delgada, Azores, Portugal. amanda.ramos.reche@gmail.com.
[Ti] Título:Verification of Inter-laboratorial Genotyping Consistency in the Molecular Diagnosis of Polyglutamine Spinocerebellar Ataxias.
[So] Source:J Mol Neurosci;58(1):83-7, 2016 Jan.
[Is] ISSN:1559-1166
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The polyglutamine spinocerebellar ataxias (SCAs) constitute a clinically and genetically heterogeneous group of rare late-onset neurodegenerative disorders, caused by CAG expansions in the coding region of the respective genes. Given their considerable clinical overlapping, differential diagnosis relies on molecular testing. Laboratory best practice guidelines for molecular genetic testing of the SCAs were released in 2010 by the European Molecular Genetics Quality Network, following the recognition of gross genotyping errors by some diagnostic laboratories. The main goal of this study was to verify the existence of inter-laboratorial consistency comparing genotypes for SCA1, SCA2, SCA3, SCA6 and SCA7 obtained by independent diagnostic laboratories. The individual impact of different methodological issues on the genotype for the several SCAs was also analysed. Four international collaborative diagnostic laboratories provided 79 samples and the respective SCA genotypes. Samples were genotyped in-house for all SCAs using an independent methodology; comparison of the allele size obtained with the one provided by the collaborative laboratories was performed. Globally, no significant differences were identified, a result which could be reflecting the fulfilment of recommendations for the molecular testing of SCAs and demonstrating an improvement in genotyping accuracy.
[Mh] Termos MeSH primário: Ataxinas/genética
Testes Genéticos/normas
Técnicas de Genotipagem/normas
Ataxias Espinocerebelares/genética
Expansão das Repetições de Trinucleotídeos/genética
[Mh] Termos MeSH secundário: Genótipo
Seres Humanos
Variações Dependentes do Observador
Peptídeos/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Ataxins); 0 (Peptides); 26700-71-0 (polyglutamine)
[Em] Mês de entrada:1610
[Cu] Atualização por classe:171108
[Lr] Data última revisão:
171108
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:151012
[St] Status:MEDLINE
[do] DOI:10.1007/s12031-015-0646-y


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[PMID]:26775375
[Au] Autor:Pazarci P; Kasap H; Koç AF; Altunbasak S; Erkoç MA
[Ti] Título:Mutation analysis of 6 spinocerebellar ataxia (SCA) types in patients from southern Turkey.
[So] Source:Turk J Med Sci;45(6):1228-33, 2015.
[Is] ISSN:1300-0144
[Cp] País de publicação:Turkey
[La] Idioma:eng
[Ab] Resumo:BACKGROUND/AIM: Spinocerebellar ataxias (SCAs) are complex clinical and genetically heterogeneous, mostly autosomal dominant neurodegenerative diseases. At present, more than 30 hereditary SCA types have been associated with different gene mutations. In this study, the frequency distribution of the 6 SCA types 1, 2, 3, 6, 7, and 17 in the Turkish population was investigated with respect to clinical features. MATERIALS AND METHODS: 159 patients who received a diagnosis of SCA and 42 healthy controls from Adana, Mersin, Gaziantep, Hatay, and Osmaniye provinces were included in the study. DNA samples were isolated from 2 mL blood samples and the number of trinucleotide repeats (TNRs) for each SCA type was detected using PCR-RFLP technique and sequencing. RESULTS: Of the 6 SCA types that were studied, 4 types, SCA 1, 3, 7, and 17, were positive and all heterozygous for expansions. SCA types 1 and 17 had higher frequencies, 4.4% and 3.8%, respectively, than SCA types 3 and 7. The clinical data of patients were also evaluated to correlate with the increased TNR numbers. CONCLUSION: This study, being the first mutation record of SCAs in this area, indicated that 9.4% of cases belonged to 4 types, SCA 1, 3, 7, and 17.
[Mh] Termos MeSH primário: Mutação
Ataxias Espinocerebelares/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Ataxinas/genética
Canais de Cálcio/genética
Estudos de Casos e Controles
Criança
Pré-Escolar
Consanguinidade
Seres Humanos
Meia-Idade
Proteína de Ligação a TATA-Box/genética
Repetições de Trinucleotídeos
Turquia
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Ataxins); 0 (CACNA1A protein, human); 0 (Calcium Channels); 0 (TATA-Box Binding Protein); 0 (TBP protein, human)
[Em] Mês de entrada:1602
[Cu] Atualização por classe:160118
[Lr] Data última revisão:
160118
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160119
[St] Status:MEDLINE


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[PMID]:26354989
[Au] Autor:Wang L; Aasly JO; Annesi G; Bardien S; Bozi M; Brice A; Carr J; Chung SJ; Clarke C; Crosiers D; Deutschländer A; Eckstein G; Farrer MJ; Goldwurm S; Garraux G; Hadjigeorgiou GM; Hicks AA; Hattori N; Klein C; Jeon B; Kim YJ; Lesage S; Lin JJ; Lynch T; Lichtner P; Lang AE; Mok V; Jasinska-Myga B; Mellick GD; Morrison KE; Opala G; Pihlstrøm L; Pramstaller PP; Park SS; Quattrone A; Rogaeva E; Ross OA; Stefanis L; Stockton JD; Silburn PA; Theuns J; Tan EK; Tomiyama H; Toft M; Van Broeckhoven C; Uitti RJ; Wirdefeldt K; Wszolek Z; Xiromerisiou G; Yueh KC; GEO-PD Consortium
[Ad] Endereço:Authors' affiliations are listed at the end of the article.
[Ti] Título:Large-scale assessment of polyglutamine repeat expansions in Parkinson disease.
[So] Source:Neurology;85(15):1283-92, 2015 Oct 13.
[Is] ISSN:1526-632X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVES: We aim to clarify the pathogenic role of intermediate size repeat expansions of SCA2, SCA3, SCA6, and SCA17 as risk factors for idiopathic Parkinson disease (PD). METHODS: We invited researchers from the Genetic Epidemiology of Parkinson's Disease Consortium to participate in the study. There were 12,346 cases and 8,164 controls genotyped, for a total of 4 repeats within the SCA2, SCA3, SCA6, and SCA17 genes. Fixed- and random-effects models were used to estimate the summary risk estimates for the genes. We investigated between-study heterogeneity and heterogeneity between different ethnic populations. RESULTS: We did not observe any definite pathogenic repeat expansions for SCA2, SCA3, SCA6, and SCA17 genes in patients with idiopathic PD from Caucasian and Asian populations. Furthermore, overall analysis did not reveal any significant association between intermediate repeats and PD. The effect estimates (odds ratio) ranged from 0.93 to 1.01 in the overall cohort for the SCA2, SCA3, SCA6, and SCA17 loci. CONCLUSIONS: Our study did not support a major role for definite pathogenic repeat expansions in SCA2, SCA3, SCA6, and SCA17 genes for idiopathic PD. Thus, results of this large study do not support diagnostic screening of SCA2, SCA3, SCA6, and SCA17 gene repeats in the common idiopathic form of PD. Likewise, this largest multicentered study performed to date excludes the role of intermediate repeats of these genes as a risk factor for PD.
[Mh] Termos MeSH primário: Frequência do Gene/genética
Predisposição Genética para Doença
Doença de Parkinson/genética
Peptídeos/genética
Expansão das Repetições de Trinucleotídeos/genética
[Mh] Termos MeSH secundário: Idoso
Ataxinas/genética
Ataxinas/metabolismo
Feminino
Seres Humanos
Masculino
Meia-Idade
Proteínas do Tecido Nervoso/genética
Proteínas Nucleares/genética
Proteínas Nucleares/metabolismo
Doença de Parkinson/epidemiologia
Fenótipo
Risco
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Ataxins); 0 (Nerve Tissue Proteins); 0 (Nuclear Proteins); 0 (Peptides); 26700-71-0 (polyglutamine)
[Em] Mês de entrada:1601
[Cu] Atualização por classe:170922
[Lr] Data última revisão:
170922
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:150911
[St] Status:MEDLINE
[do] DOI:10.1212/WNL.0000000000002016


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[PMID]:26269637
[Au] Autor:Dell'Orco JM; Wasserman AH; Chopra R; Ingram MA; Hu YS; Singh V; Wulff H; Opal P; Orr HT; Shakkottai VG
[Ad] Endereço:Department of Neurology, University of Michigan, Ann Arbor, Michigan 48109.
[Ti] Título:Neuronal Atrophy Early in Degenerative Ataxia Is a Compensatory Mechanism to Regulate Membrane Excitability.
[So] Source:J Neurosci;35(32):11292-307, 2015 Aug 12.
[Is] ISSN:1529-2401
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:UNLABELLED: Neuronal atrophy in neurodegenerative diseases is commonly viewed as an early event in a continuum that ultimately results in neuronal loss. In a mouse model of the polyglutamine disorder spinocerebellar ataxia type 1 (SCA1), we tested the hypothesis that cerebellar Purkinje neuron atrophy serves an adaptive role rather than being simply a nonspecific response to injury. In acute cerebellar slices from SCA1 mice, we find that Purkinje neuron pacemaker firing is initially normal but, with the onset of motor dysfunction, becomes disrupted, accompanied by abnormal depolarization. Remarkably, subsequent Purkinje cell atrophy is associated with a restoration of pacemaker firing. The early inability of Purkinje neurons to support repetitive spiking is due to unopposed calcium currents resulting from a reduction in large-conductance calcium-activated potassium (BK) and subthreshold-activated potassium channels. The subsequent restoration of SCA1 Purkinje neuron firing correlates with the recovery of the density of these potassium channels that accompanies cell atrophy. Supporting a critical role for BK channels, viral-mediated increases in BK channel expression in SCA1 Purkinje neurons improves motor dysfunction and partially restores Purkinje neuron morphology. Cerebellar perfusion of flufenamic acid, an agent that restores the depolarized membrane potential of SCA1 Purkinje neurons by activating potassium channels, prevents Purkinje neuron dendritic atrophy. These results suggest that Purkinje neuron dendritic remodeling in ataxia is an adaptive response to increases in intrinsic membrane excitability. Similar adaptive remodeling could apply to other vulnerable neuronal populations in neurodegenerative disease. SIGNIFICANCE STATEMENT: In neurodegenerative disease, neuronal atrophy has long been assumed to be an early nonspecific event preceding neuronal loss. However, in a mouse model of spinocerebellar ataxia type 1 (SCA1), we identify a previously unappreciated compensatory role for neuronal shrinkage. Purkinje neuron firing in these mice is initially normal, but is followed by abnormal membrane depolarization resulting from a reduction in potassium channels. Subsequently, these electrophysiological effects are counteracted by cell atrophy, which by restoring normal potassium channel membrane density, re-establishes pacemaker firing. Reversing the initial membrane depolarization improved motor function and Purkinje neuron morphology in the SCA1 mice. These results suggest that Purkinje neuron remodeling in ataxia is an active compensatory response that serves to normalize intrinsic membrane excitability.
[Mh] Termos MeSH primário: Cerebelo/patologia
Potenciais da Membrana/fisiologia
Células de Purkinje/patologia
Ataxias Espinocerebelares/patologia
[Mh] Termos MeSH secundário: Potenciais de Ação/fisiologia
Animais
Ataxina-1
Ataxinas
Atrofia/patologia
Atrofia/fisiopatologia
Cerebelo/fisiopatologia
Modelos Animais de Doenças
Camundongos
Camundongos Transgênicos
Proteínas do Tecido Nervoso/genética
Proteínas Nucleares/genética
Células de Purkinje/fisiologia
Ataxias Espinocerebelares/fisiopatologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Ataxin-1); 0 (Ataxins); 0 (Atxn1 protein, mouse); 0 (Nerve Tissue Proteins); 0 (Nuclear Proteins)
[Em] Mês de entrada:1511
[Cu] Atualização por classe:161019
[Lr] Data última revisão:
161019
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150814
[St] Status:MEDLINE
[do] DOI:10.1523/JNEUROSCI.1357-15.2015


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[PMID]:26156983
[Au] Autor:Li WC
[Ad] Endereço:School of Psychology and Neuroscience, the University of St. Andrews, Fife, KY16 9JP, Scotland, United Kingdom Wl21@st-andrews.ac.uk.
[Ti] Título:Selective Gating of Neuronal Activity by Intrinsic Properties in Distinct Motor Rhythms.
[So] Source:J Neurosci;35(27):9799-810, 2015 Jul 08.
[Is] ISSN:1529-2401
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Many neural circuits show fast reconfiguration following altered sensory or modulatory inputs to generate stereotyped outputs. In the motor circuit of Xenopus tadpoles, I study how certain voltage-dependent ionic currents affect firing thresholds and contribute to circuit reconfiguration to generate two distinct motor patterns, swimming and struggling. Firing thresholds of excitatory interneurons [i.e., descending interneurons (dINs)] in the swimming central pattern generator are raised by depolarization due to the inactivation of Na(+) currents. In contrast, the thresholds of other types of neurons active in swimming or struggling are raised by hyperpolarization from the activation of fast transient K(+) currents. The firing thresholds are then compared with the excitatory synaptic drives, which are revealed by blocking action potentials intracellularly using QX314 during swimming and struggling. During swimming, transient K(+) currents lower neuronal excitability and gate out neurons with weak excitation, whereas their inactivation by strong excitation in other neurons increases excitability and enables fast synaptic potentials to drive reliable firing. During struggling, continuous sensory inputs lead to high levels of network excitation. This allows the inactivation of Na(+) currents and suppression of dIN activity while inactivating transient K(+) currents, recruiting neurons that are not active in swimming. Therefore, differential expression of these currents between neuron types can explain why synaptic strength does not predict firing reliability/intensity during swimming and struggling. These data show that intrinsic properties can override fast synaptic potentials, mediate circuit reconfiguration, and contribute to motor-pattern switching.
[Mh] Termos MeSH primário: Geradores de Padrão Central/fisiologia
Locomoção/fisiologia
Inibição Neural/fisiologia
Periodicidade
Filtro Sensorial/efeitos dos fármacos
[Mh] Termos MeSH secundário: 4-Aminopiridina/farmacologia
Potenciais de Ação/efeitos dos fármacos
Potenciais de Ação/fisiologia
Anestésicos Locais/farmacologia
Animais
Ataxinas
Geradores de Padrão Central/efeitos dos fármacos
Potenciais Pós-Sinápticos Excitadores/efeitos dos fármacos
Feminino
Gonadotropinas/farmacologia
Seres Humanos
Lidocaína/análogos & derivados
Lidocaína/farmacologia
Locomoção/efeitos dos fármacos
Masculino
Proteínas do Tecido Nervoso/farmacologia
Inibição Neural/efeitos dos fármacos
Bloqueadores dos Canais de Potássio/farmacologia
Natação/fisiologia
Xenopus
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Anesthetics, Local); 0 (Ataxins); 0 (Gonadotropins); 0 (Nerve Tissue Proteins); 0 (Potassium Channel Blockers); 21306-56-9 (QX-314); 98PI200987 (Lidocaine); BH3B64OKL9 (4-Aminopyridine)
[Em] Mês de entrada:1509
[Cu] Atualização por classe:170220
[Lr] Data última revisão:
170220
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150710
[St] Status:MEDLINE
[do] DOI:10.1523/JNEUROSCI.0323-15.2015


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[PMID]:26077168
[Au] Autor:Clark LN; Ye X; Liu X; Mirzozoda K; Louis ED
[Ad] Endereço:Department of Pathology and Cell Biology, College of Physicians and Surgeons, Columbia University, New York, NY, USA; Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, NY, USA. Electronic address: lc654@cumc.col
[Ti] Título:Genetic analysis of ten common degenerative hereditary ataxia loci in patients with essential tremor.
[So] Source:Parkinsonism Relat Disord;21(8):943-7, 2015 Aug.
[Is] ISSN:1873-5126
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: To investigate the association of repeat expansion size in 10 common degenerative hereditary ataxia genes with essential tremor. These genes were spinocerebellar ataxia (SCA)-1 (ATXN1), SCA-2 (ATXN2), SCA-3 (ATXN3), SCA-6 (CACNA1A), SCA-7 (ATXN7), SCA-8 (ATXN8OS), SCA-10 (ATXN10), SCA-12 (PPP2R2B), SCA-17 (TBP) and dentatorubral-pallidolysian atrophy (DRPLA) (ATN1). METHODS: Genetic analysis of repeat size in 10 degenerative hereditary ataxia loci was performed in 323 essential tremor patients and 299 controls enrolled at Columbia University. To test for differences in the allele distribution between patients and controls, a CLUMP analysis was performed. RESULTS: None of the essential tremor patients had a repeat expansion in the intermediate or pathogenic range. Significant differences in the distribution of repeats in the 'normal' range for SCA2 and SCA8 (both p ≤ 0.02) were observed between essential tremor patients and controls. CONCLUSIONS: Our study suggests that pathogenic repeat expansions in SCA loci are not associated with essential tremor.
[Mh] Termos MeSH primário: Ataxinas/genética
Tremor Essencial/genética
Expansão das Repetições de Trinucleotídeos/genética
[Mh] Termos MeSH secundário: Adulto
Feminino
Loci Gênicos
Testes Genéticos
Seres Humanos
Masculino
Meia-Idade
Análise de Sequência de DNA
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Ataxins)
[Em] Mês de entrada:1605
[Cu] Atualização por classe:161019
[Lr] Data última revisão:
161019
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150617
[St] Status:MEDLINE


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[PMID]:25920043
[Au] Autor:Iwasaki Y; Mori K; Ito M; Mimuro M; Yoshida M
[Ad] Endereço:Department of Neuropathology, Institute for Medical Science of Aging, Aichi Medical University, Nagakute, Japan.
[Ti] Título:Presenile onset of spinocerebellar ataxia type 1 presenting with conspicuous psychiatric symptoms and widespread anti-expanded polyglutamine antibody- and fused in sarcoma antibody-immunopositive pathology.
[So] Source:Psychogeriatrics;15(3):212-7, 2015 Sep.
[Is] ISSN:1479-8301
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:A 50-year-old Japanese man showed slowly progressive gait disturbance and dysarthria. Neurological examination 5 years after onset revealed slow eye movement with nystagmus as well as limb and truncal ataxia. Magnetic resonance imaging showed atrophy of the cerebellum and brainstem. Because genetic examination revealed CAG repeat expansion of the ataxin-1 gene, the patient was diagnosed with spinocerebellar ataxia type 1. Ten years after onset, he showed psychiatric symptoms with cognitive impairment, and antipsychotic drugs were administered. As psychiatric symptoms gradually worsened, particularly with regard to resisting nursing care and shouting, the doses of the drugs were increased. Although the clinicopathologic findings were generally identical to previously reported spinocerebellar ataxia type 1 cases with the exception of the conspicuous psychiatric symptoms, there are two notable immunohistochemical findings. Firstly, numerous anti-expanded polyglutamine antibody-immunopositive neuronal inclusions were extensively observed, including in the cerebral cortex and limbic system, but not in the Purkinje cells. Secondly, anti-fused in sarcoma antibody-immunopositive intranuclear inclusions were extensively observed. We posit that the anti-expanded polyglutamine antibody-immunopositive neuronal inclusions and possibly the anti-fused in sarcoma antibody-immunopositive inclusions, particularly those in the neocortex and limbic system, may correspond to the psychiatric symptoms and cognitive impairment that were observed in the patient.
[Mh] Termos MeSH primário: Encéfalo/patologia
Peptídeos/metabolismo
Sarcoma/patologia
Ataxias Espinocerebelares/patologia
Expansão das Repetições de Trinucleotídeos
[Mh] Termos MeSH secundário: Ataxinas
Atrofia
Seres Humanos
Imuno-Histoquímica
Imagem por Ressonância Magnética
Masculino
Meia-Idade
Degeneração Neural/patologia
Neurônios/patologia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Ataxins); 0 (Peptides); 26700-71-0 (polyglutamine)
[Em] Mês de entrada:1601
[Cu] Atualização por classe:150915
[Lr] Data última revisão:
150915
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150429
[St] Status:MEDLINE
[do] DOI:10.1111/psyg.12122



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