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  1 / 1952 MEDLINE  
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[PMID]:29383373
[Au] Autor:Muth CC
[Ti] Título:ASO Therapy: Hope for Genetic Neurological Diseases.
[So] Source:JAMA;319(7):644-646, 2018 Feb 20.
[Is] ISSN:1538-3598
[Cp] País de publicação:United States
[La] Idioma:eng
[Mh] Termos MeSH primário: Atrofia Muscular Espinal/tratamento farmacológico
Doenças Neurodegenerativas/tratamento farmacológico
Oligonucleotídeos Antissenso/uso terapêutico
[Mh] Termos MeSH secundário: Animais
Modelos Animais de Doenças
Seres Humanos
Camundongos
Atrofia Muscular Espinal/genética
Distrofia Muscular de Duchenne/tratamento farmacológico
Distrofia Muscular de Duchenne/genética
Mutação
Doenças Neurodegenerativas/genética
Ataxias Espinocerebelares/tratamento farmacológico
[Pt] Tipo de publicação:NEWS
[Nm] Nome de substância:
0 (Oligonucleotides, Antisense)
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180302
[Lr] Data última revisão:
180302
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:180201
[St] Status:MEDLINE
[do] DOI:10.1001/jama.2017.18665


  2 / 1952 MEDLINE  
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Texto completo SciELO Brasil
[PMID]:29236819
[Au] Autor:Amarante TRP; Takeda SYM; Teive HAG; Zonta MB
[Ad] Endereço:Universidade Federal do Paraná, Programa de Residência Integrada Multiprofissional em Cuidados Hospitalares - Saúde para Adultos e Idosos, Curitiba PR, Brasil.
[Ti] Título:Impact of disease duration on functional status of patients with spinocerebellar ataxia type 2.
[So] Source:Arq Neuropsiquiatr;75(11):773-777, 2017 Nov.
[Is] ISSN:1678-4227
[Cp] País de publicação:Brazil
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To correlate disease duration in spinocerebellar ataxia type 2 (SCA2) with disease severity, balance and functionality. METHOD: Sixteen SCA2 patients were analyzed for: disease duration, disease severity (SARA score), balance (Berg balance scale score) and functionality (FIM and Lawton scores). RESULTS: Greater severity was correlated with worse functionality (Lawton: r = -0.0561, FIM: r = -0.6402) and balance (r = -0.7188). Longer disease duration was correlated with greater severity (p = 0.0002) and reduced functionality (FIM: p = 0.005; Lawton: p = 0.0402) and balance (p = 0.0036). A year increase in disease duration corresponded to a 0.8-point increase on the SARA scale, a 1.38-point decrease in FIM score, a 2.30-point decrease on the Berg balance scale and a 0.45-point decrease on the Lawton scale. CONCLUSION: Longer disease duration in this series of SCA2 patients was correlated with greater disease severity, worse balance and greater functional dependency.
[Mh] Termos MeSH primário: Atividades Cotidianas
Equilíbrio Postural/fisiologia
Ataxias Espinocerebelares/complicações
[Mh] Termos MeSH secundário: Adulto
Idoso
Estudos Transversais
Avaliação da Deficiência
Feminino
Seres Humanos
Masculino
Meia-Idade
Estudos Retrospectivos
Índice de Gravidade de Doença
Ataxias Espinocerebelares/fisiopatologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180129
[Lr] Data última revisão:
180129
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171214
[St] Status:MEDLINE


  3 / 1952 MEDLINE  
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Vargas, Fernando R
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[PMID]:28456900
[Au] Autor:Monte TL; Reckziegel ER; Augustin MC; Silva ASP; Locks-Coelho LD; Barsottini O; Pedroso JL; Vargas FR; Saraiva-Pereira ML; Leotti VB; Jardim LB; Rede Neurogenética
[Ad] Endereço:Serviço de Neurologia, Hospital de Clínicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil.
[Ti] Título:NESSCA Validation and Responsiveness of Several Rating Scales in Spinocerebellar Ataxia Type 2.
[So] Source:Cerebellum;16(4):852-858, 2017 Aug.
[Is] ISSN:1473-4230
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Spinocerebellar ataxia type 2 (SCA2), caused by a CAG expansion (CAGexp) at ATXN2, has a complex clinical picture. While validated ataxia scales are available, comprehensive instruments to measure all SCA2 neurological manifestations are required. This study aims to validate the Neurological Examination Score for the assessment of Spinocerebellar Ataxias (NESSCA) to be used in SCA2 and to compare its responsiveness to those obtained with other instruments. NESSCA, SARA, SCAFI, and CCFS scales were applied in symptomatic SCA2 patients. Correlations were done with age at onset, disease duration, CAGexp, and between scales. Responsiveness was estimated by comparing deltas of stable to worse patients after 12 months, according to Patient Global Impression of change, and the area under the curve (AUC) of the Receiver Operating Characteristics curve of scores range. Eighty-eight evaluations (49 patients) were obtained. NESSCA had an even distribution and correlated with disease duration (r = 0.55), SARA (r = 0.63), and CAGexp (rho = 0.32): both explained 44% of NESSCA variance. Deltas (95% CI) after 1 year in stable and worse patients were only significantly different for SARA. NESSCA, SARA, SCAFI, and CCFS AUC were 0.63, 0.81, 0.49, and 0.48, respectively. NESSCA is valid to be used in SCA2. However, the only instrument that presented good responsiveness to change in 1 year was SARA. We suggest that NESSCA can be used as a secondary outcome in future trials in SCA2 due to the burden of neurological disabilities related to disease progression.
[Mh] Termos MeSH primário: Exame Neurológico
Índice de Gravidade de Doença
Ataxias Espinocerebelares/diagnóstico
[Mh] Termos MeSH secundário: Adulto
Idade de Início
Idoso
Área Sob a Curva
Progressão da Doença
Feminino
Seguimentos
Heterozigoto
Seres Humanos
Masculino
Meia-Idade
Curva ROC
Ataxias Espinocerebelares/genética
Ataxias Espinocerebelares/fisiopatologia
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE; VALIDATION STUDIES
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180129
[Lr] Data última revisão:
180129
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170501
[St] Status:MEDLINE
[do] DOI:10.1007/s12311-017-0855-8


  4 / 1952 MEDLINE  
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[PMID]:29287867
[Au] Autor:Babanejad M; Adeli OA; Nikzat N; Beheshtian M; Azarafra H; Sadeghnia F; Mohseni M; Najmabadi H; Kahrizi K
[Ad] Endereço:Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
[Ti] Título:SLC52A2 mutations cause SCABD2 phenotype: A second report.
[So] Source:Int J Pediatr Otorhinolaryngol;104:195-199, 2018 Jan.
[Is] ISSN:1872-8464
[Cp] País de publicação:Ireland
[La] Idioma:eng
[Ab] Resumo:INTRODUCTION: Autosomal recessive cerebellar ataxias (ARCAs) are a large group of neurodegenerative disorders that manifest mainly in children and young adults. Most ARCAs are heterogeneous with respect to age at onset, severity of disease progression, and frequency of extracerebellar and systemic signs. METHODS: The phenotype of a consanguineous Iranian family was characterized using clinical testing and pedigree analysis. Whole-exome sequencing was used to identify the disease-causing gene in this family. RESULTS AND CONCLUSION: Using whole exome sequencing (WES), a novel missense mutation in SLC52A2 gene is reported in a consanguineous Iranian family with progressive severe hearing loss, optic atrophy and ataxia. This is the second report of the genotype-phenotype correlation between this syndrome named spinocerebellar ataxia with blindness and deafness type 2 (SCABD2) and SLC52A2 gene.
[Mh] Termos MeSH primário: Receptores Acoplados a Proteínas-G/genética
Ataxias Espinocerebelares/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Criança
Feminino
Estudos de Associação Genética
Perda Auditiva
Seres Humanos
Irã (Geográfico)
Masculino
Mutação de Sentido Incorreto
Linhagem
Fenótipo
Sequenciamento Completo do Exoma/métodos
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Receptors, G-Protein-Coupled); 0 (SLC52A2 protein, human)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180116
[Lr] Data última revisão:
180116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171231
[St] Status:MEDLINE


  5 / 1952 MEDLINE  
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[PMID]:29211771
[Au] Autor:Ferro A; Carbone E; Zhang J; Marzouk E; Villegas M; Siegel A; Nguyen D; Possidente T; Hartman J; Polley K; Ingram MA; Berry G; Reynolds TH; Possidente B; Frederick K; Ives S; Lagalwar S
[Ad] Endereço:Neuroscience Program, Skidmore College, Saratoga Springs, New York, United States of America.
[Ti] Título:Short-term succinic acid treatment mitigates cerebellar mitochondrial OXPHOS dysfunction, neurodegeneration and ataxia in a Purkinje-specific spinocerebellar ataxia type 1 (SCA1) mouse model.
[So] Source:PLoS One;12(12):e0188425, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Mitochondrial dysfunction plays a significant role in neurodegenerative disease including ataxias and other movement disorders, particularly those marked by progressive degeneration in the cerebellum. In this study, we investigate the role of mitochondrial oxidative phosphorylation (OXPHOS) deficits in cerebellar tissue of a Purkinje cell-driven spinocerebellar ataxia type 1 (SCA1) mouse. Using RNA sequencing transcriptomics, OXPHOS complex assembly analysis and oxygen consumption assays, we report that in the presence of mutant polyglutamine-expanded ataxin-1, SCA1 mice display deficits in cerebellar OXPHOS complex I (NADH-coenzyme Q oxidoreductase). Complex I genes are upregulated at the time of symptom onset and upregulation persists into late stage disease; yet, functional assembly of complex I macromolecules are diminished and oxygen respiration through complex I is reduced. Acute treatment of postsymptomatic SCA1 mice with succinic acid, a complex II (succinate dehydrogenase) electron donor to bypass complex I dysfunction, ameliorated cerebellar OXPHOS dysfunction, reduced cerebellar pathology and improved motor behavior. Thus, exploration of mitochondrial dysfunction and its role in neurodegenerative ataxias, and warrants further investigation.
[Mh] Termos MeSH primário: Cerebelo/metabolismo
Modelos Animais de Doenças
Mitocôndrias/metabolismo
Células de Purkinje/patologia
Ataxias Espinocerebelares/metabolismo
Ácido Succínico/administração & dosagem
[Mh] Termos MeSH secundário: Animais
Camundongos
Camundongos Transgênicos
Fosforilação Oxidativa
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
AB6MNQ6J6L (Succinic Acid)
[Em] Mês de entrada:1712
[Cu] Atualização por classe:171229
[Lr] Data última revisão:
171229
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171207
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0188425


  6 / 1952 MEDLINE  
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[PMID]:27779133
[Au] Autor:Hickey A; Gunn E; Alcock L; Del Din S; Godfrey A; Rochester L; Galna B
[Ad] Endereço:Institute of Neuroscience, Newcastle University, Newcastle, UK.
[Ti] Título:Validity of a wearable accelerometer to quantify gait in spinocerebellar ataxia type 6.
[So] Source:Physiol Meas;37(11):N105-N117, 2016 Nov.
[Is] ISSN:1361-6579
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Biomarkers are required to track disease progression and measure the effectiveness of interventions for people with spinocerebellar ataxia type-6 (SCA6). Gait is a potential biomarker that is sensitive to SCA6 which can be measured using wearable technology, reducing the need for expensive specialist facilities. However, algorithms used to calculate gait using data from wearables have not been validated in SCA6. This study sought to examine the validity of a single wearable for deriving 14 spatio-temporal gait characteristics in SCA6 and control cohorts. Participants performed eight intermittent walks along a 7 m instrumented walkway at their preferred walking pace while also wearing a single accelerometer-based wearable on L5. Gait algorithms previously validated in neurological populations and controls were used to derive gait characteristics. We assessed the bias, agreement and sensitivity of gait characteristics derived using the instrumented walkway and the wearable. Mean gait characteristics showed good to excellent agreement for both groups, although gait variability and asymmetry showed poor agreement between the two systems. Agreement improved considerably in the SCA6 group when people who used walking sticks were excluded from the analysis, suggesting poorer agreement in people with more severe gait impairment. Despite poor agreement for some characteristics, gait measured using the wearable was generally more sensitive to group differences than the instrumented walkway. Our findings indicate mean gait characteristics can be accurately measured using an accelerometer-based wearable in people SCA6 with mild-to-moderately severe gait impairment yet further development of algorithms are required for people with more severe symptoms.
[Mh] Termos MeSH primário: Acelerometria/instrumentação
Marcha
Monitorização Ambulatorial/instrumentação
Ataxias Espinocerebelares/fisiopatologia
Dispositivos Eletrônicos Vestíveis
[Mh] Termos MeSH secundário: Algoritmos
Feminino
Seres Humanos
Masculino
Meia-Idade
Reprodutibilidade dos Testes
Ataxias Espinocerebelares/diagnóstico
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171130
[Lr] Data última revisão:
171130
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161105
[St] Status:MEDLINE


  7 / 1952 MEDLINE  
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[PMID]:29053796
[Au] Autor:Nibbeling EAR; Duarri A; Verschuuren-Bemelmans CC; Fokkens MR; Karjalainen JM; Smeets CJLM; de Boer-Bergsma JJ; van der Vries G; Dooijes D; Bampi GB; van Diemen C; Brunt E; Ippel E; Kremer B; Vlak M; Adir N; Wijmenga C; van de Warrenburg BPC; Franke L; Sinke RJ; Verbeek DS
[Ad] Endereço:Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
[Ti] Título:Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia.
[So] Source:Brain;140(11):2860-2878, 2017 Nov 01.
[Is] ISSN:1460-2156
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:The autosomal dominant cerebellar ataxias, referred to as spinocerebellar ataxias in genetic nomenclature, are a rare group of progressive neurodegenerative disorders characterized by loss of balance and coordination. Despite the identification of numerous disease genes, a substantial number of cases still remain without a genetic diagnosis. Here, we report five novel spinocerebellar ataxia genes, FAT2, PLD3, KIF26B, EP300, and FAT1, identified through a combination of exome sequencing in genetically undiagnosed families and targeted resequencing of exome candidates in a cohort of singletons. We validated almost all genes genetically, assessed damaging effects of the gene variants in cell models and further consolidated a role for several of these genes in the aetiology of spinocerebellar ataxia through network analysis. Our work links spinocerebellar ataxia to alterations in synaptic transmission and transcription regulation, and identifies these as the main shared mechanisms underlying the genetically diverse spinocerebellar ataxia types.
[Mh] Termos MeSH primário: Redes Reguladoras de Genes/genética
Ataxias Espinocerebelares/genética
[Mh] Termos MeSH secundário: Animais
Células COS
Caderinas/genética
Cercopithecus aethiops
Proteína p300 Associada a E1A/genética
Exoma/genética
Feminino
Células HEK293
Seres Humanos
Cinesina/genética
Masculino
Linhagem
Fosfolipase D/genética
Plasmídeos
Reação em Cadeia da Polimerase em Tempo Real
Reação em Cadeia da Polimerase Via Transcriptase Reversa
Análise de Sequência de DNA
Transfecção
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Cadherins); 0 (FAT1 protein, human); 0 (FAT2 protein, human); EC 2.3.1.48 (E1A-Associated p300 Protein); EC 2.3.1.48 (EP300 protein, human); EC 3.1.4.4 (Phospholipase D); EC 3.1.4.4 (phospholipase D3, human); EC 3.6.1.- (KIF26B protein, human); EC 3.6.4.4 (Kinesin)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171107
[Lr] Data última revisão:
171107
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:171021
[St] Status:MEDLINE
[do] DOI:10.1093/brain/awx251


  8 / 1952 MEDLINE  
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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


  9 / 1952 MEDLINE  
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[PMID]:28923333
[Au] Autor:Cuello-Almarales DA; Almaguer-Mederos LE; Vázquez-Mojena Y; Almaguer-Gotay D; Zayas-Feria P; Laffita-Mesa JM; González-Zaldívar Y; Aguilera-Rodríguez R; Rodríguez-Estupiñán A; Velázquez-Pérez L
[Ad] Endereço:Department of Molecular Biology, Center for Research and Rehabilitation of Hereditary Ataxias (CIRAH), Holguín City, Cuba. Electronic address: cuellodany@gmail.com.
[Ti] Título:Buccal Cell Micronucleus Frequency Is Significantly Elevated in Patients with Spinocerebellar Ataxia Type 2.
[So] Source:Arch Med Res;48(3):297-302, 2017 Apr.
[Is] ISSN:1873-5487
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Spinocerebellar ataxia type 2 (SCA2) is part of a group of at least nine dominantly inherited disorders characterized by progressive degeneration of specific neuronal populations and a shared mutational mechanism involving the expansion of a CAG repeat tract in coding regions of novel genes. Efforts have been made to identify biomarkers of disease progression, which would allow timely preventive therapeutic interventions. In the present study was assessed the influence of several genome instability biomarkers on SCA2 clinical severity. A case-control design was applied on exfoliated epithelial buccal cells to determine micronuclei frequency and others nuclear anomalies, using 5% Giemsa stains. The slides were analyzed under 1000X magnification and nuclei morphological anomalies were identified according to Tolbert PE, et al. (1992) and Bolognesi C, et al. (2013) criteria. It was found a highly significant increase in micronuclei frequency in cases related to age and sex-matched healthy controls (p <0.001). There was a trend for karyolytic, pyknotic and condensed chromatin cells to be increased in SCA2 cases, and a significant association was found between binucleated cells and disease duration (r = 0.46; p = 0.027). Nor the CAG repeat length neither the age at onset correlated significantly with any of the studied markers (p >0.05). Our results are consistent with report previous in similar neurodegenerative diseases, and suggest that micronuclei and binucleated cells constitute potential peripheral biomarkers for SCA2. These results should be validated by other studies.
[Mh] Termos MeSH primário: Micronúcleos com Defeito Cromossômico
Mucosa Bucal/ultraestrutura
Ataxias Espinocerebelares/patologia
[Mh] Termos MeSH secundário: Adulto
Idade de Início
Estudos de Casos e Controles
Progressão da Doença
Feminino
Instabilidade Genômica
Seres Humanos
Masculino
Testes para Micronúcleos
Meia-Idade
Mutação
Ataxias Espinocerebelares/genética
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[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:170920
[St] Status:MEDLINE


  10 / 1952 MEDLINE  
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[PMID]:28886343
[Au] Autor:Watson LM; Bamber E; Schnekenberg RP; Williams J; Bettencourt C; Lickiss J; Jayawant S; Fawcett K; Clokie S; Wallis Y; Clouston P; Sims D; Houlden H; Becker EBE; Németh AH
[Ad] Endereço:Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford OX1 3PT, UK.
[Ti] Título:Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44.
[So] Source:Am J Hum Genet;101(3):451-458, 2017 Sep 07.
[Is] ISSN:1537-6605
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The metabotropic glutamate receptor 1 (mGluR1) is abundantly expressed in the mammalian central nervous system, where it regulates intracellular calcium homeostasis in response to excitatory signaling. Here, we describe heterozygous dominant mutations in GRM1, which encodes mGluR1, that are associated with distinct disease phenotypes: gain-of-function missense mutations, linked in two different families to adult-onset cerebellar ataxia, and a de novo truncation mutation resulting in a dominant-negative effect that is associated with juvenile-onset ataxia and intellectual disability. Crucially, the gain-of-function mutations could be pharmacologically modulated in vitro using an existing FDA-approved drug, Nitazoxanide, suggesting a possible avenue for treatment, which is currently unavailable for ataxias.
[Mh] Termos MeSH primário: Regulação da Expressão Gênica/efeitos dos fármacos
Mutação de Sentido Incorreto/genética
Receptores de Glutamato Metabotrópico/genética
Ataxias Espinocerebelares/genética
Tiazóis/farmacologia
[Mh] Termos MeSH secundário: Antiparasitários/farmacologia
Feminino
Células HEK293
Seres Humanos
Masculino
Linhagem
Transdução de Sinais/efeitos dos fármacos
Ataxias Espinocerebelares/patologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Antiparasitic Agents); 0 (Receptors, Metabotropic Glutamate); 0 (Thiazoles); SOA12P041N (nitazoxanide)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171125
[Lr] Data última revisão:
171125
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170909
[St] Status:MEDLINE



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