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[PMID]:29340519
[Au] Autor:Barboza LA; Ghisi NC
[Ad] Endereço:Laboratório de Biologia Molecular, Universidade Tecnológica Federal do Paraná, Dois Vizinhos, PR, Brasil.
[Ti] Título:Evaluating the current state of the art of Huntington disease research: a scientometric analysis.
[So] Source:Braz J Med Biol Res;51(3):e6299, 2018 Jan 11.
[Is] ISSN:1414-431X
[Cp] País de publicação:Brazil
[La] Idioma:eng
[Ab] Resumo:Huntington disease (HD) is an incurable neurodegenerative disorder caused by a dominant mutation on the 4th chromosome. We aim to present a scientometric analysis of the extant scientific undertakings devoted to better understanding HD. Therefore, a quantitative study was performed to examine the current state-of-the-art approaches that foster researchers' understandings of the current knowledge, research trends, and research gaps regarding this disorder. We performed literature searches of articles that were published up to September 2016 in the "ISI Web of Science™" (http://apps.webofknowledge.com/). The keyword used was "Huntington disease". Of the initial 14,036 articles that were obtained, 7732 were eligible for inclusion in the study according to their relevance. Data were classified according to language, country of publication, year, and area of concentration. The country leader regarding the number of studies published on HD is the United States, accounting for nearly 30% of all publications, followed by England and Germany, who have published 10 and 7% of all publications, respectively. Regarding the language in which the articles were written, 98% of publications were in English. The first publication to be found on HD was published in 1974. A surge of publications on HD can be seen from 1996 onward. In relation to the various knowledge areas that emerged, most publications were in the fields of neuroscience and neurology, likely because HD is a neurodegenerative disorder. Publications written in areas such as psychiatry, genetics, and molecular biology also predominated.
[Mh] Termos MeSH primário: Pesquisa Biomédica/estatística & dados numéricos
Doença de Huntington/genética
[Mh] Termos MeSH secundário: Brasil
Coreia/genética
Seres Humanos
Doença de Huntington/diagnóstico
Doença de Huntington/terapia
Internacionalidade
Linguagem
Complexo Mediador/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (MED12 protein, human); 0 (Mediator Complex)
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180301
[Lr] Data última revisão:
180301
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180118
[St] Status:MEDLINE


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[PMID]:28979614
[Au] Autor:Bouchal S; Ouali O; Belahsen MF
[Ad] Endereço:Service de Neurologie, CHU Hassan II, Fès, Maroc.
[Ti] Título:[Exceptionally good response to sodium valproate in patients with recurrent Sydenham's chorea].
[Ti] Título:Réponse spectaculaire au valproate de sodium d'une chorée de Sydenham récurrente..
[So] Source:Pan Afr Med J;27:212, 2017.
[Is] ISSN:1937-8688
[Cp] País de publicação:Uganda
[La] Idioma:fre
[Ab] Resumo:Sydenham's chorea is the most common acquired cause of chorea in the third world. We report a case of recurrent chorea successfully treated with sodium valproate. Miss A.C, aged 16, with a history of recurrent angina reported an episode of choreic movements 2 years before requiring treatment with haloperidol and prevention of rheumatic fever. The patient interrupted her treatment with occurrence of a relapse a few months later. Brain MRI and transthoracic ultrasound were normal. Preventive treatment with extencilline and haloperidol was restarted without any improvement, hence the treatment with sodium valproate. The patient responded very well after 2 months of treatment, without recurrence at 3 years' follow-up. The treatment of Sydenham's chorea was based on neuroleptics. Recent studies advocate the use of other more effective and better tolerated molecules.
[Mh] Termos MeSH primário: Anticonvulsivantes/uso terapêutico
Coreia/tratamento farmacológico
Ácido Valproico/uso terapêutico
[Mh] Termos MeSH secundário: Adolescente
Coreia/fisiopatologia
Feminino
Seguimentos
Haloperidol/uso terapêutico
Seres Humanos
Recidiva
Febre Reumática/prevenção & controle
Resultado do Tratamento
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Anticonvulsants); 614OI1Z5WI (Valproic Acid); J6292F8L3D (Haloperidol)
[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:171006
[St] Status:MEDLINE
[do] DOI:10.11604/pamj.2017.27.212.11383


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[PMID]:28692723
[Au] Autor:Frank S; Stamler D; Kayson E; Claassen DO; Colcher A; Davis C; Duker A; Eberly S; Elmer L; Furr-Stimming E; Gudesblatt M; Hunter C; Jankovic J; Kostyk SK; Kumar R; Loy C; Mallonee W; Oakes D; Scott BL; Sung V; Goldstein J; Vaughan C; Testa CM; Huntington Study Group/Alternatives for Reducing Chorea in Huntington Disease Investigators
[Ad] Endereço:Department of Neurology, Harvard Medical School, Boston, Massachusetts.
[Ti] Título:Safety of Converting From Tetrabenazine to Deutetrabenazine for the Treatment of Chorea.
[So] Source:JAMA Neurol;74(8):977-982, 2017 Aug 01.
[Is] ISSN:2168-6157
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Importance: Tetrabenazine is efficacious for chorea control; however, tolerability concerns exist. Deutetrabenazine, a novel molecule that reduces chorea, was well tolerated in a double-blind, placebo-controlled study. Objectives: To evaluate the safety and explore the efficacy of conversion from tetrabenazine to deutetrabenazine in patients with chorea associated with Huntington disease (HD). Design, Setting, and Participants: In this ongoing, open-label, single-arm study that started on December 21, 2013, 37 patients at 13 Huntington Study Group sites in the United States and Australia who were taking stable doses of tetrabenazine that provided a therapeutic benefit were switched overnight to deutetrabenazine therapy. After week 1, the deutetrabenazine dose was titrated on a weekly basis for optimal chorea control. Interventions: Deutetrabenazine administration at a dosage thought to provide comparable systemic exposure to the active metabolites of the prior, stable tetrabenazine regimen. Main Outcomes and Measures: Safety measures included adverse events (AEs), clinical laboratory tests, vital signs, electrocardiograms, and validated scales. Changes in the Unified Huntington's Disease Rating Scale total maximal chorea score and total motor score were efficacy end points. Results: Of the 53 patients with HD screened for the study, 37 ambulatory patients with manifest HD (mean [SD] age, 52.4 [11.5] years; 22 [59%] male and 15 [41%] female; 36 white [97.3%]) were enrolled. Deutetrabenazine was generally well tolerated, with low rates of neuropsychiatric AEs. Safety scales did not reveal subclinical toxicity with deutetrabenazine treatment. Rates of dose reduction or suspension attributable to AEs were also low. Chorea control, as measured by the total maximal chorea score, was maintained at week 1 and significantly improved at week 8 (mean [SD] change from baseline, 2.1 [3.2]; P < .001). Conclusions and Relevance: In patients with chorea, overnight conversion to deutetrabenazine therapy provided a favorable safety profile and effectively maintained chorea control.
[Mh] Termos MeSH primário: Inibidores da Captação Adrenérgica/uso terapêutico
Coreia/tratamento farmacológico
Substituição de Medicamentos/métodos
Tetrabenazina/análogos & derivados
Tetrabenazina/uso terapêutico
[Mh] Termos MeSH secundário: Austrália
Feminino
Seguimentos
Seres Humanos
Masculino
Meia-Idade
Índice de Gravidade de Doença
Resultado do Tratamento
Estados Unidos
[Pt] Tipo de publicação:JOURNAL ARTICLE; MULTICENTER STUDY
[Nm] Nome de substância:
0 (Adrenergic Uptake Inhibitors); 0 (deutetrabenazine); Z9O08YRN8O (Tetrabenazine)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:171113
[Lr] Data última revisão:
171113
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170711
[St] Status:MEDLINE
[do] DOI:10.1001/jamaneurol.2017.1352


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[PMID]:28532905
[Au] Autor:Mulders AEP; Leentjens AFG; Schruers K; Duits A; Ackermans L; Temel Y
[Ad] Endereço:Department of Neurosurgery, Maastricht University Medical Center, Maastricht, the Netherlands; Department of Psychiatry and Neuropsychology, Maastricht University Medical Center, Maastricht, the Netherlands; Department of Neuroscience, Maastricht University Medical Center, Maastricht, the Netherland
[Ti] Título:Choreatic Side Effects of Deep Brain Stimulation of the Anteromedial Subthalamic Nucleus for Treatment-Resistant Obsessive-Compulsive disorder.
[So] Source:World Neurosurg;104:1048.e9-1048.e13, 2017 Aug.
[Is] ISSN:1878-8769
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Patients with treatment-resistant obsessive-compulsive disorder (OCD) are potential candidates for deep brain stimulation (DBS). The anteromedial subthalamic nucleus (STN) is among the most commonly used targets for DBS in OCD. CASE DESCRIPTION: We present a patient with a 30-year history of treatment-resistant OCD who underwent anteromedial STN-DBS. Despite a clear mood-enhancing effect, stimulation caused motor side effects, including bilateral hyperkinesia, dyskinesias, and sudden large amplitude choreatic movements of arms and legs when stimulating at voltages greater than approximately 1.5 V. DBS at lower amplitudes and at other contact points failed to result in a significant reduction of obsessions and compulsions without inducing motor side effects. Because of this limitation in programming options, we decided to reoperate and target the ventral capsule/ventral striatum (VC/VS), which resulted in a substantial reduction in key obsessive and compulsive symptoms without serious side effects. CONCLUSIONS: Choreatic movements and hemiballismus have previously been linked to STN dysfunction and have been incidentally reported as side effects of DBS of the dorsolateral STN in Parkinson disease (PD). However, in PD, these side effects were usually transient, and they rarely interfered with DBS programming. In our patient, the motor side effects were persistent, and they made optimal DBS programming impossible. To our knowledge, such severe and persistent motor side effects have not been described previously for anteromedial STN-DBS.
[Mh] Termos MeSH primário: Coreia/etiologia
Estimulação Encefálica Profunda/efeitos adversos
Hipercinese/etiologia
Transtorno Obsessivo-Compulsivo/terapia
Núcleo Subtalâmico
Estriado Ventral
[Mh] Termos MeSH secundário: Discinesias/etiologia
Feminino
Seres Humanos
Meia-Idade
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170925
[Lr] Data última revisão:
170925
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170524
[St] Status:MEDLINE


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[PMID]:28485494
[Au] Autor:Stewart K; Harvey A; Johnston LM
[Ad] Endereço:Kids Rehab, The Children's Hospital at Westmead, Sydney, NSW, Australia.
[Ti] Título:A systematic review of scales to measure dystonia and choreoathetosis in children with dyskinetic cerebral palsy.
[So] Source:Dev Med Child Neurol;59(8):786-795, 2017 Aug.
[Is] ISSN:1469-8749
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:AIM: To identify and systematically review the psychometric properties and clinical utility of dystonia and choreoathetosis scales reported for children with cerebral palsy (CP). METHOD: Six electronic databases were searched for dystonia and choreoathetosis scales with original psychometric data for children with CP aged 0 to 18 years. RESULTS: Thirty-four papers met the inclusion criteria, which contained six scales purported to measure dystonia and/or choreoathetosis in children with CP: the Burke-Fahn-Marsden Dystonia Rating Scale; Barry-Albright Dystonia Scale; Unified Dystonia Rating Scale; Movement Disorder-Childhood Rating Scale; Movement Disorder-Childhood Rating Scale 0-3 Years; and the Dyskinesia Impairment Scale. INTERPRETATION: Each scale provides useful information about dyskinesia, with most focusing on dystonia. The Barry-Albright Dystonia Scale, which was designed for CP, is the most commonly reported scale and least complex to use clinically. The Dyskinesia Impairment Scale is the only tool to consider both dystonia and choreoathetosis in CP. All tools are designed to classify movement disorders at the level of body functions and structures, rather than activity limitations or participation restrictions, although many provide some insight into the impact of dystonia on activities. Further studies are required to fully examine the validity, reliability, responsiveness, and clinical utility of each scale specifically for children with CP.
[Mh] Termos MeSH primário: Atetose/diagnóstico
Paralisia Cerebral/diagnóstico
Coreia/diagnóstico
Distúrbios Distônicos/diagnóstico
Índice de Gravidade de Doença
[Mh] Termos MeSH secundário: Adolescente
Atetose/etiologia
Paralisia Cerebral/complicações
Criança
Pré-Escolar
Coreia/etiologia
Distúrbios Distônicos/etiologia
Seres Humanos
Lactente
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170719
[Lr] Data última revisão:
170719
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170510
[St] Status:MEDLINE
[do] DOI:10.1111/dmcn.13452


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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]:28324302
[Au] Autor:Wyant KJ; Ridder AJ; Dayalu P
[Ad] Endereço:Department of Neurology, University of Michigan, 1324 Taubman Center, SPC 5322, 1500 E. Medical Center Drive, Ann Arbor, 48109-5322, USA. wyantk@med.umich.edu.
[Ti] Título:Huntington's Disease-Update on Treatments.
[So] Source:Curr Neurol Neurosci Rep;17(4):33, 2017 Apr.
[Is] ISSN:1534-6293
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Huntington's disease (HD) is an autosomal dominantly inherited neurodegenerative disease characterized by progressive motor, behavioral, and cognitive decline, ending in death. Despite the discovery of the underlying genetic mutation more than 20 years ago, treatment remains focused on symptomatic management. Chorea, the most recognizable symptom, responds to medication that reduces dopaminergic neurotransmission. Psychiatric symptoms such as depression and anxiety may also respond well to symptomatic therapies. Unfortunately, many other symptoms do not respond to current treatments. Furthermore, high-quality evidence for treatment of HD in general remains limited. To date, there has been minimal success with identifying a disease-modifying therapy based upon molecular models. However, one of the emerging gene silencing techniques may provide a breakthrough in treating this devastating disease.
[Mh] Termos MeSH primário: Doença de Huntington/terapia
[Mh] Termos MeSH secundário: Animais
Ansiedade/etiologia
Comportamento
Coreia/etiologia
Transtornos Cognitivos/etiologia
Depressão/etiologia
Seres Humanos
Doença de Huntington/complicações
Doença de Huntington/diagnóstico
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1708
[Cu] Atualização por classe:171107
[Lr] Data última revisão:
171107
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170322
[St] Status:MEDLINE
[do] DOI:10.1007/s11910-017-0739-9


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[PMID]:28286255
[Au] Autor:Kharbanda M; Hermanns P; Jones J; Pohlenz J; Horrocks I; Donaldson M
[Ad] Endereço:West of Scotland Department of Clinical Genetics, Level 2A Laboratory Medicine Building, Queen Elizabeth University Hospital, Glasgow, UK. Electronic address: mira.kharbanda@nhs.net.
[Ti] Título:A further case of brain-lung-thyroid syndrome with deletion proximal to NKX2-1.
[So] Source:Eur J Med Genet;60(5):257-260, 2017 May.
[Is] ISSN:1878-0849
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Brain-lung-thyroid syndrome (OMIM #610978) is associated with mutations in the NK2 homeobox 1 (NKX2-1) gene, a transcription factor important in development. 50% of patients are affected by the full triad, comprising congenital hypothyroidism, benign hereditary chorea and infant respiratory distress syndrome. Four cases have previously been reported where a patient has features consistent with brain-lung-thyroid syndrome and a chromosome 14q13 deletion adjacent to, but not disrupting, NKX2-1. We present a patient who has a phenotype consistent with brain-lung-thyroid syndrome, featuring congenital hypothyroidism and choreoathetoid movements with gross motor delay. Thyroid ultrasound showed a small-normal gland and spontaneous resolution of hypothyroidism. Array CGH revealed a de novo 14q13.2-3 deletion adjacent to but not directly involving NKX2-1. Sequencing of NKX2-1 was normal. This report highlights a further case of chromosomal deletion adjacent to NXK2-1 in a patient with a phenotype consistent with brain-lung-thyroid syndrome, and confirms that array-CGH is a useful test in the investigation of congenital hypothyroidism. Deletion of the adjacent gene MBIP in most reported cases so far may be relevant to the pathogenesis of brain-lung-thyroid syndrome. Deletion of nearby promoter or enhancer elements acting on NKX2-1 could also be an important factor. However, further work is needed to elucidate the pathogenesis of the brain-lung-thyroid phenotype in such cases.
[Mh] Termos MeSH primário: Atetose/genética
Coreia/genética
Hipotireoidismo Congênito/genética
Deleção de Genes
Proteínas Nucleares/genética
Síndrome do Desconforto Respiratório do Recém-Nascido/genética
Fatores de Transcrição/genética
[Mh] Termos MeSH secundário: Criança
Feminino
Seres Humanos
Fator Nuclear 1 de Tireoide
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Nuclear Proteins); 0 (Thyroid Nuclear Factor 1); 0 (Transcription Factors)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170314
[St] Status:MEDLINE


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[PMID]:28202424
[Au] Autor:Arya R; Spaeth C; Gilbert DL; Leach JL; Holland KD
[Ad] Endereço:Comprehensive Epilepsy Center, Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
[Ti] Título:GNAO1-associated epileptic encephalopathy and movement disorders: c.607G>A variant represents a probable mutation hotspot with a distinct phenotype.
[So] Source:Epileptic Disord;19(1):67-75, 2017 Mar 01.
[Is] ISSN:1950-6945
[Cp] País de publicação:France
[La] Idioma:eng
[Ab] Resumo:We describe a case of GNAO1-associated epilepsy and chorea in a patient with a de novo pathogenic mutation. This patient is unique in being the first reported male with this phenotype, and we propose that this genetic variant may represent a mutation hotspot that characterizes a unique phenotype. This 5.2-years-old boy presented with seizures, chorea, and severe global developmental delay. Brain imaging showed progressive diffuse cerebral atrophy. EEG monitoring revealed multifocal and diffuse discharges, along with generalized-onset seizures. Genetic testing found a de novo pathogenic variant in the GNAO1 gene (c.607G>A; p.Gly203Arg). A review of the literature showed two other patients with similar phenotype and the same genetic variant. In contrast, other patients with neurological involvement had private mutations in the GNAO1 gene. The neurological phenotypes associated with GNAO1 mutations appear to lie on a spectrum, and it is possible that the c.607G>A (p.Gly203Arg) variant characterizes a phenotype with both severe epilepsy and chorea. [Published with video sequence on www.epilepticdisorders.com].
[Mh] Termos MeSH primário: Coreia/genética
Deficiências do Desenvolvimento/genética
Subunidades alfa Gi-Go de Proteínas de Ligação ao GTP/genética
Convulsões
[Mh] Termos MeSH secundário: Atrofia/patologia
Pré-Escolar
Coreia/fisiopatologia
Deficiências do Desenvolvimento/fisiopatologia
Seres Humanos
Masculino
Mutação
Fenótipo
Convulsões/genética
Convulsões/patologia
Convulsões/fisiopatologia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (GNAO1 protein, human); EC 3.6.5.1 (GTP-Binding Protein alpha Subunits, Gi-Go)
[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:170217
[St] Status:MEDLINE
[do] DOI:10.1684/epd.2017.0888


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[PMID]:28190498
[Au] Autor:Lowrie M; Garosi L
[Ad] Endereço:Dovecote Veterinary Hospital, 5 Delven Lane, Castle Donington, Derby DE74 2LJ, UK. Electronic address: mark.lowrie@dovecoteveterinaryhospital.co.uk.
[Ti] Título:Classification of involuntary movements in dogs: Paroxysmal dyskinesias.
[So] Source:Vet J;220:65-71, 2017 Feb.
[Is] ISSN:1532-2971
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Paroxysmal dyskinesias (PDs) are a group of hyperkinetic movement disorders characterised by circumscribed episodes of disturbed movement, superimposed on a background state in which such abnormality is absent. There is no loss of consciousness. Episodes can last seconds, minutes or hours, and the beginning and end of the movement disturbance are abrupt. Neurological examination is typically normal between episodes. PDs are associated with a broad spectrum of clinical presentations, encompassing various aetiologies. In humans, three main groups of PDs are distinguished, based on precipitating events rather than phenomenology: (1) paroxysmal kinesigenic dyskinesia (PKD); (2) paroxysmal nonkinesigenic dyskinesia (PNKD); and (3) paroxysmal exertion-induced dyskinesia (PED). In recent years, there has been an expansion of the spectrum of manifestations of PD due to the identification of genes associated with PD in humans (PRRT1, MR-1, SLC2A1 and KCNMA1) and dogs (BCAN and PIGN). The precise pathophysiological mechanism underlying the clinical manifestations of these reported mutations remains to be elucidated. Progress is also being made in the field of immunology, and links to gluten hypersensitivity in Border terriers with so-called canine epileptoid cramping syndrome (CECS) have been reported. This review aims to synthesise a classification scheme for veterinary PDs by reviewing human systems and applying them to veterinary examples. However, it is anticipated that genetic advancement will greatly aid in future stratification and therapy for PDs in dogs. Therefore, classification systems should be viewed as works in progress that should be modified as necessary.
[Mh] Termos MeSH primário: Coreia/veterinária
Doenças do Cão/classificação
[Mh] Termos MeSH secundário: Animais
Coreia/classificação
Coreia/etiologia
Doenças do Cão/etiologia
Cães
Seres Humanos
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170627
[Lr] Data última revisão:
170627
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170214
[St] Status:MEDLINE



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