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  1 / 1876 MEDLINE  
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[PMID]:28452906
[Au] Autor:Hsu CW; Lee Y; Lee CY; Lin PY
[Ad] Endereço:Department of Psychiatry, Kaohsiung Chang Gung Memorial Hospital and Chang Gung University College of Medicine, Kaohsiung, Taiwan.
[Ti] Título:Reversible Pisa Syndrome Induced by Rivastigmine in a Patient With Early-Onset Alzheimer Disease.
[So] Source:Clin Neuropharmacol;40(3):147-148, 2017 May/Jun.
[Is] ISSN:1537-162X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Pisa syndrome (PS) is a state of dystonic muscle contraction with a marked truncal deviation to one side. It is an uncommon adverse effect of antipsychotic drugs, but is rarely reported in patients receiving acetylcholinesterase inhibitors, especially rivastigmine. We present a 57-year-old female patient with Alzheimer disease who began to develop symptoms of dementia at the age of 51 years. She was observed to have symptoms of PS after continuous use of rivastigmine (9 mg/d) for nearly 2 years. The PS symptoms improved after the dose of rivastigmine was reduced but recurred when the dose was added back to 9 mg/d. Finally, after we decreased the dose to 4.5 mg/d, her PS symptoms were remitted. This report reminds us that clinicians need to be cautious about the risk of PS when prescribing rivastigmine in a patient with early-onset Alzheimer disease.
[Mh] Termos MeSH primário: Doença de Alzheimer/tratamento farmacológico
Inibidores da Colinesterase/efeitos adversos
Fármacos Neuroprotetores/efeitos adversos
Síndromes Neurotóxicas/terapia
Rivastigmina/efeitos adversos
[Mh] Termos MeSH secundário: Inibidores da Colinesterase/administração & dosagem
Inibidores da Colinesterase/uso terapêutico
Relação Dose-Resposta a Droga
Monitoramento de Medicamentos
Distúrbios Distônicos/etiologia
Distúrbios Distônicos/prevenção & controle
Feminino
Seres Humanos
Meia-Idade
Neuroimagem
Fármacos Neuroprotetores/administração & dosagem
Fármacos Neuroprotetores/uso terapêutico
Síndromes Neurotóxicas/diagnóstico por imagem
Síndromes Neurotóxicas/fisiopatologia
Rivastigmina/administração & dosagem
Rivastigmina/uso terapêutico
Resultado do Tratamento
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Cholinesterase Inhibitors); 0 (Neuroprotective Agents); PKI06M3IW0 (Rivastigmine)
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180306
[Lr] Data última revisão:
180306
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170429
[St] Status:MEDLINE
[do] DOI:10.1097/WNF.0000000000000215


  2 / 1876 MEDLINE  
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[PMID]:29219190
[Au] Autor:Blitzer A; Brin MF; Simonyan K; Ozelius LJ; Frucht SJ
[Ad] Endereço:Department of Otolaryngology-Head and Neck Surgery, Columbia University, College of Physicians and Surgeons, New York, New York.
[Ti] Título:Phenomenology, genetics, and CNS network abnormalities in laryngeal dystonia: A 30-year experience.
[So] Source:Laryngoscope;128 Suppl 1:S1-S9, 2018 Jan.
[Is] ISSN:1531-4995
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: Laryngeal dystonia (LD) is a functionally specific disorder of the afferent-efferent motor coordination system producing action-induced muscle contraction with a varied phenomenology. This report of long-term studies aims to review and better define the phenomenology and central nervous system abnormalities of this disorder and improve diagnosis and treatment. METHODS: Our studies categorized over 1,400 patients diagnosed with LD over the past 33 years, including demographic and medical history records and their phenomenological presentations. Patients were grouped on clinical phenotype (adductor or abductor) and genotype (sporadic and familial) and with DNA analysis and functional magnetic resonance imaging (fMRI) to investigate brain organization differences and characterize neural markers for genotype/phenotype categorization. A number of patients with alcohol-sensitive dystonia were also studied. RESULTS: A spectrum of LD phenomena evolved: adductor, abductor, mixed, singer's, dystonic tremor, and adductor respiratory dystonia. Patients were genetically screened for DYT (dystonia) 1, DYT4, DYT6, and DYT25 (GNAL)-and several were positive. The functional MRI studies showed distinct alterations within the sensorimotor network, and the LD patients with a family history had distinct cortical and cerebellar abnormalities. A linear discriminant analysis of fMRI findings showed a 71% accuracy in characterizing LD from normal and in characterizing adductor from abductor forms. CONCLUSION: Continuous studies of LD patients over 30 years has led to an improved understanding of the phenomenological characteristics of this neurological disorder. Genetic and fMRI studies have better characterized the disorder and raise the possibility of making objective rather than subjective diagnoses, potentially leading to new therapeutic approaches. Laryngoscope, 128:S1-S9, 2018.
[Mh] Termos MeSH primário: Sistema Nervoso Central/anormalidades
Distúrbios Distônicos/genética
Distúrbios Distônicos/fisiopatologia
Doenças da Laringe/genética
Doenças da Laringe/fisiopatologia
[Mh] Termos MeSH secundário: Mapeamento Encefálico
Sistema Nervoso Central/diagnóstico por imagem
Genótipo
Seres Humanos
Imagem por Ressonância Magnética
Fenótipo
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180109
[Lr] Data última revisão:
180109
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171209
[St] Status:MEDLINE
[do] DOI:10.1002/lary.27003


  3 / 1876 MEDLINE  
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[PMID]:27773588
[Au] Autor:Srivanitchapoom P; Shamim EA; Diomi P; Hattori T; Pandey S; Vorbach S; Park JE; Wu T; Auh S; Hallett M
[Ad] Endereço:Human Motor Control Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA; Division of Neurology, Department of Medicine, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand. Electronic address: prachaya.srivanitch
[Ti] Título:Differences in active range of motion measurements in the upper extremity of patients with writer's cramp compared with healthy controls.
[So] Source:J Hand Ther;29(4):489-495, 2016 Oct - Dec.
[Is] ISSN:1545-004X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:STUDY DESIGN: Exploratory case-control study. INTRODUCTION: Writer's cramp (WC) is a type of focal hand dystonia. The central nervous system plays a role in its pathophysiology, but abnormalities in the affected musculoskeletal components may also be relevant. PURPOSE OF THE STUDY: We compared the active range of motion (ROM) in patients with WC and healthy volunteers (HVs) and correlated the findings with disease duration and severity. METHODS: Affected limb joints were measured with goniometers. Patients were assessed at least 3 months after their last botulinum toxin (botulinum neurotoxin) injection, and strength was clinically normal. t tests were used to compare the ROMs of WC with matched HVs. The Spearman correlation coefficient assessed the relationship of active ROMs to the disease duration and handwriting subscore of the Dystonia Disability Scale. RESULTS: ROMs of D1 metacarpophalangeal (MCP) joint extension as well as D2 and D5 MCP flexion were significantly smaller in WC, and distal interphalangeal joint extension in D3 and D5 was significantly greater compared with HVs. There were negative correlations between D2 MCP flexion and disease duration and with Dystonia Disability Scale. DISCUSSION: Abnormalities in ROMs in WC were found. Severity and disease duration correlated with reduced D2 MCP flexion. This may be related to intrinsic biomechanical abnormalities, co-contraction of muscles, or a combination of subclinical weakness and atrophy from repeated botulinum neurotoxin injections. CONCLUSIONS: Hand biomechanical properties should not be ignored in the pathophysiology of WC. LEVEL OF EVIDENCE: 2c.
[Mh] Termos MeSH primário: Toxinas Botulínicas/uso terapêutico
Distúrbios Distônicos/tratamento farmacológico
Amplitude de Movimento Articular/fisiologia
[Mh] Termos MeSH secundário: Adulto
Fatores Etários
Estudos de Casos e Controles
Distúrbios Distônicos/diagnóstico
Distúrbios Distônicos/reabilitação
Articulação do Cotovelo/fisiopatologia
Feminino
Articulações dos Dedos/efeitos dos fármacos
Articulações dos Dedos/fisiopatologia
Seres Humanos
Injeções Intralesionais
Masculino
Meia-Idade
Amplitude de Movimento Articular/efeitos dos fármacos
Valores de Referência
Medição de Risco
Índice de Gravidade de Doença
Fatores Sexuais
Resultado do Tratamento
Articulação do Punho/fisiopatologia
[Pt] Tipo de publicação:COMPARATIVE STUDY; JOURNAL ARTICLE
[Nm] Nome de substância:
EC 3.4.24.69 (Botulinum Toxins)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171128
[Lr] Data última revisão:
171128
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161025
[St] Status:MEDLINE


  4 / 1876 MEDLINE  
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[PMID]:28972096
[Au] Autor:Meoni S; Fraix V; Castrioto A; Benabid AL; Seigneuret E; Vercueil L; Pollak P; Krack P; Chevrier E; Chabardes S; Moro E
[Ad] Endereço:Division of Neurology, CHU of Grenoble, Grenoble Alpes University, Grenoble, France.
[Ti] Título:Pallidal deep brain stimulation for dystonia: a long term study.
[So] Source:J Neurol Neurosurg Psychiatry;88(11):960-967, 2017 Nov.
[Is] ISSN:1468-330X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Pallidal deep brain stimulation (globus pallidus internus (GPi) DBS) is the best therapeutic option for disabling isolated idiopathic (IID) and inherited (INH) dystonia. Acquired dystonia (AD) may also benefit from GPi DBS. Efficacy and safety in the long-term remained to be established. OBJECTIVE: To retrospectively assess long-term clinical outcomes and safety in dystonic patients who underwent GPi DBS. METHODS: Patients were videotaped and assessed preoperatively and postoperatively (1-year and at last available follow-up) using the Burke-Fahn-Marsden Dystonia Rating Scale (motor score (BFMDRS-M); disability score (BFMDRS-D)). RESULTS: Sixty-one patients were included (follow-up 7.9±5.9 years; range 1-20.7). In IID and INH (n=37), the BFMDRS-M improved at first (20.4±24.5; p<0.00001) and last (22.2±18.2; p<0.001) follow-ups compared with preoperatively (50.5±28.0). In AD (n=19), the BFMDRS-M ameliorated at 1-year (40.8±26.5; p<0.02) and late follow-ups (44.3±24.3; p<0.04) compared with preoperatively (52.8±24.2). In INH dystonia with other neurological features (n=4) there was no motor benefit. In IID and INH, the BFMDRS-D improved at 1-year (9.5±7.5; p<0.0002) and late follow-ups (10.4±7.8; p<0.016) compared with preoperatively (13.3±6.9). In AD, the BFMDRS-D reduced at 1-year (12.0±8.1; p<0.01) and late follow-ups (12.7 ±6.1; p=0.2) compared with preoperatively (14.35±5.7). Most adverse events were hardware related. CONCLUSIONS: GPi DBS is an effective and safe treatment in most patients with dystonia.
[Mh] Termos MeSH primário: Estimulação Encefálica Profunda
Distúrbios Distônicos/terapia
Globo Pálido/fisiopatologia
[Mh] Termos MeSH secundário: Adulto
Distúrbios Distônicos/fisiopatologia
Feminino
Seguimentos
Seres Humanos
Masculino
Meia-Idade
Estudos Retrospectivos
Resultado do Tratamento
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171114
[Lr] Data última revisão:
171114
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171004
[St] Status:MEDLINE
[do] DOI:10.1136/jnnp-2016-315504


  5 / 1876 MEDLINE  
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[PMID]:28902876
[Au] Autor:Morishita T; Hilliard JD; Okun MS; Neal D; Nestor KA; Peace D; Hozouri AA; Davidson MR; Bova FJ; Sporrer JM; Oyama G; Foote KD
[Ad] Endereço:Department of Neurosurgery, Fukuoka University, Fukuoka, Japan.
[Ti] Título:Postoperative lead migration in deep brain stimulation surgery: Incidence, risk factors, and clinical impact.
[So] Source:PLoS One;12(9):e0183711, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:INTRODUCTION: Deep brain stimulation (DBS) is an effective treatment for multiple movement disorders and shows substantial promise for the treatment of some neuropsychiatric and other disorders of brain neurocircuitry. Optimal neuroanatomical lead position is a critical determinant of clinical outcomes in DBS surgery. Lead migration, defined as an unintended post-operative displacement of the DBS lead, has been previously reported. Despite several reports, however, there have been no systematic investigations of this issue. This study aimed to: 1) quantify the incidence of lead migration in a large series of DBS patients, 2) identify potential risk factors contributing to DBS lead migration, and 3) investigate the practical importance of this complication by correlating its occurrence with clinical outcomes. METHODS: A database of all DBS procedures performed at UF was queried for patients who had undergone multiple post-operative DBS lead localization imaging studies separated by at least two months. Bilateral DBS implantation has commonly been performed as a staged procedure at UF, with an interval of six or more months between sides. To localize the position of each DBS lead, a head CT is acquired ~4 weeks after lead implantation and fused to the pre-operative targeting MRI. The fused targeting images (MR + stereotactic CT) acquired in preparation for the delayed second side lead implantation provide an opportunity to repeat the localization of the first implanted lead. This paradigm offers an ideal patient population for the study of delayed DBS lead migration because it provides a large cohort of patients with localization of the same implanted DBS lead at two time points. The position of the tip of each implanted DBS lead was measured on both the initial post-operative lead localization CT and the delayed CT. Lead tip displacement, intracranial lead length, and ventricular indices were collected and analyzed. Clinical outcomes were characterized with validated rating scales for all cases, and a comparison was made between outcomes of cases with lead migration versus those where migration of the lead did not occur. RESULTS: Data from 138 leads in 132 patients with initial and delayed lead localization CT scans were analyzed. The mean distance between initial and delayed DBS lead tip position was 2.2 mm and the mean change in intracranial lead length was 0.45 mm. Significant delayed migration (>3 mm) was observed in 17 leads in 16 patients (12.3% of leads, 12.1% of patients). Factors associated with lead migration were: technical error, repetitive dystonic head movement, and twiddler's syndrome. Outcomes were worse in dystonia patients with lead migration (p = 0.035). In the PD group, worse clinical outcomes trended in cases with lead migration. CONCLUSIONS: Over 10% of DBS leads in this large single center cohort were displaced by greater than 3 mm on delayed measurement, adversely affecting outcomes. Multiple risk factors emerged, including technical error during implantation of the DBS pulse generator and failure of lead fixation at the burr hole site. We hypothesize that a change in surgical technique and a more effective lead fixation device might mitigate this problem.
[Mh] Termos MeSH primário: Estimulação Encefálica Profunda/efeitos adversos
Estimulação Encefálica Profunda/estatística & dados numéricos
Eletrodos Implantados/efeitos adversos
Migração de Corpo Estranho/epidemiologia
Complicações Pós-Operatórias/epidemiologia
[Mh] Termos MeSH secundário: Adulto
Idoso
Encéfalo/diagnóstico por imagem
Encéfalo/cirurgia
Estimulação Encefálica Profunda/instrumentação
Estimulação Encefálica Profunda/métodos
Distúrbios Distônicos/epidemiologia
Distúrbios Distônicos/terapia
Feminino
Migração de Corpo Estranho/etiologia
Seres Humanos
Incidência
Imagem por Ressonância Magnética
Masculino
Meia-Idade
Doença de Parkinson/epidemiologia
Doença de Parkinson/terapia
Complicações Pós-Operatórias/etiologia
Estudos Retrospectivos
Fatores de Risco
Resultado do Tratamento
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171031
[Lr] Data última revisão:
171031
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170914
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0183711


  6 / 1876 MEDLINE  
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[PMID]:28869676
[Au] Autor:Weissbach A; Werner E; Bally JF; Tunc S; Löns S; Timmann D; Zeuner KE; Tadic V; Brüggemann N; Lang A; Klein C; Münchau A; Bäumer T
[Ad] Endereço:Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
[Ti] Título:Alcohol improves cerebellar learning deficit in myoclonus-dystonia: A clinical and electrophysiological investigation.
[So] Source:Ann Neurol;82(4):543-553, 2017 Oct.
[Is] ISSN:1531-8249
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To characterize neurophysiological subcortical abnormalities in myoclonus-dystonia and their modulation by alcohol administration. METHODS: Cerebellar associative learning and basal ganglia-brainstem interaction were investigated in 17 myoclonus-dystonia patients with epsilon-sarcoglycan (SGCE) gene mutation and 21 age- and sex-matched healthy controls by means of classical eyeblink conditioning and blink reflex recovery cycle before and after alcohol intake resulting in a breath alcohol concentration of 0.08% (0.8g/l). The alcohol responsiveness of clinical symptoms was evaluated by 3 blinded raters with a standardized video protocol and clinical rating scales including the Unified Myoclonus Rating Scale and the Burke-Fahn-Marsden Dystonia Rating Scale. RESULTS: Patients showed a significantly reduced number of conditioned eyeblink responses before alcohol administration compared to controls. Whereas the conditioning response rate decreased under alcohol intake in controls, it increased in patients (analysis of variance: alcohol state × group, p = 0.004). Blink reflex recovery cycle before and after alcohol intake did not differ between groups. Myoclonus improved significantly after alcohol intake (p = 0.016). The severity of action myoclonus at baseline correlated negatively with the conditioning response in classical eyeblink conditioning in patients. INTERPRETATION: The combination of findings of reduced baseline acquisition of conditioned eyeblink responses and normal blink reflex recovery cycle in patients who improved significantly with alcohol intake suggests a crucial role of cerebellar networks in the generation of symptoms in these patients. Ann Neurol 2017;82:543-553.
[Mh] Termos MeSH primário: Piscadela/efeitos dos fármacos
Distúrbios Distônicos/complicações
Etanol/administração & dosagem
Etanol/farmacologia
Transtornos de Aprendizagem/tratamento farmacológico
Transtornos de Aprendizagem/etiologia
[Mh] Termos MeSH secundário: Administração por Inalação
Adolescente
Adulto
Estudos de Casos e Controles
Depressores do Sistema Nervoso Central/administração & dosagem
Depressores do Sistema Nervoso Central/farmacologia
Condicionamento Clássico/efeitos dos fármacos
Distúrbios Distônicos/genética
Eletromiografia
Feminino
Seres Humanos
Masculino
Meia-Idade
Mutação/genética
Sarcoglicanas/genética
Índice de Gravidade de Doença
Gravação em Vídeo
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Central Nervous System Depressants); 0 (SGCE protein, human); 0 (Sarcoglycans); 3K9958V90M (Ethanol)
[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:170905
[St] Status:MEDLINE
[do] DOI:10.1002/ana.25035


  7 / 1876 MEDLINE  
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[PMID]:28674168
[Au] Autor:Fuertinger S; Simonyan K
[Ad] Endereço:Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, New York 10029, and.
[Ti] Título:Connectome-Wide Phenotypical and Genotypical Associations in Focal Dystonia.
[So] Source:J Neurosci;37(31):7438-7449, 2017 Aug 02.
[Is] ISSN:1529-2401
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Isolated focal dystonia is a debilitating movement disorder of unknown pathophysiology. Early studies in focal dystonias have pointed to segregated changes in brain activity and connectivity. Only recently has the notion that dystonia pathophysiology may lie in abnormalities of large-scale brain networks appeared in the literature. Here, we outline a novel concept of functional connectome-wide alterations that are linked to dystonia phenotype and genotype. Using a neural community detection strategy and graph theoretical analysis of functional MRI data in human patients with the laryngeal form of dystonia (LD) and healthy controls (both males and females), we identified an abnormally widespread hub formation in LD, which particularly affected the primary sensorimotor and parietal cortices and thalamus. Left thalamic regions formed a delineated functional community that highlighted differences in network topology between LD patients with and without family history of dystonia. Conversely, marked differences in the topological organization of parietal regions were found between phenotypically different forms of LD. The interface between sporadic genotype and adductor phenotype of LD yielded four functional communities that were primarily governed by intramodular hub regions. Conversely, the interface between familial genotype and abductor phenotype was associated with numerous long-range hub nodes and an abnormal integration of left thalamus and basal ganglia. Our findings provide the first comprehensive atlas of functional topology across different phenotypes and genotypes of focal dystonia. As such, this study constitutes an important step toward defining dystonia as a large-scale network disorder, understanding its causative pathophysiology, and identifying disorder-specific markers. The architecture of the functional connectome in focal dystonia was analyzed in a large population of patients with laryngeal dystonia. Breaking with the empirical concept of dystonia as a basal ganglia disorder, we discovered large-scale alterations of neural communities that are significantly influenced by the disorder's clinical phenotype and genotype.
[Mh] Termos MeSH primário: Encéfalo/fisiopatologia
Conectoma/métodos
Distúrbios Distônicos/fisiopatologia
Doenças da Laringe/fisiopatologia
Rede Nervosa/fisiopatologia
Distúrbios da Fala/fisiopatologia
[Mh] Termos MeSH secundário: Distúrbios Distônicos/genética
Feminino
Estudos de Associação Genética
Predisposição Genética para Doença/genética
Genótipo
Seres Humanos
Doenças da Laringe/genética
Masculino
Meia-Idade
Vias Neurais/fisiopatologia
Fenótipo
Distúrbios da Fala/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; RANDOMIZED CONTROLLED TRIAL
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170822
[Lr] Data última revisão:
170822
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170705
[St] Status:MEDLINE
[do] DOI:10.1523/JNEUROSCI.0384-17.2017


  8 / 1876 MEDLINE  
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[PMID]:28667724
[Au] Autor:Goswami JN; Sankhyan N; Singhi PD
[Ad] Endereço:Pediatric Neurology and Neurodevelopment Unit, Department of Pediatrics, Advanced Pediatrics Centre, PGIMER, Chandigarh, India. Correspondence to: Prof. Pratibha Singhi, APC, PGIMER, Chandigarh 160 012, India. doctorpratibhasinghi@gmail.com.
[Ti] Título:An Indian Family with Tyrosine Hydroxylase Deficiency.
[So] Source:Indian Pediatr;54(6):499-501, 2017 Jun 15.
[Is] ISSN:0974-7559
[Cp] País de publicação:India
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Tyrosine Hydroxylase deficiency is a rare neurotransmitter disorder. CASE CHARACTERISTICS: An Indian family with the disorder. OBSERVATIONS: Phenotypic variation, elevated serum prolactin, genetic confirmation, and partial treatment-responsiveness. MESSAGE: Tyrosine Hydroxylase deficiency is a treatable inborn error of metabolism and serum prolactin assists in diagnosis.
[Mh] Termos MeSH primário: Distúrbios Distônicos/congênito
[Mh] Termos MeSH secundário: Dopaminérgicos/uso terapêutico
Feminino
Seres Humanos
Índia
Lactente
Levodopa/uso terapêutico
Masculino
Tirosina 3-Mono-Oxigenase/genética
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Dopamine Agents); 46627O600J (Levodopa); EC 1.14.16.2 (Tyrosine 3-Monooxygenase)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171017
[Lr] Data última revisão:
171017
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170702
[St] Status:MEDLINE


  9 / 1876 MEDLINE  
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[PMID]:28652522
[Au] Autor:Nakamura Y
[Ad] Endereço:Department of Neurology, Kindai University Sakai Hospital.
[Ti] Título:Botulinum toxin for treatment of the focal dystonia.
[So] Source:Rinsho Shinkeigaku;57(7):367-372, 2017 07 29.
[Is] ISSN:1882-0654
[Cp] País de publicação:Japan
[La] Idioma:jpn
[Ab] Resumo:Dystonia is defined as a movement disorder characterized by sustained or intermittent muscles contraction causing abnormal, often repetitive, movements, postures, or both. Dystonic movements are typically patterned and twisting, and may be tremulous. The precis diagnosis of dystonia is difficult for physicians because neurological brain imaging does not provide enough practical information. The diagnosis is depend on clinical experience of physicians. Botulinum toxin treatment is the accepted standard of care for patients with focal dystonia. Botulinum toxin treatment results in significant improvement of decreasing the symptom of dystonia. The success of treatment is dependent on muscle selection for treating involved muscles. Usually performance of botulinum toxin treatment is injected according to clinical experience of surface anatomy or clinical location method. However, the benefit of guidance of botulinum toxin treatment is improve outcome in dystonia. Injection techniques with ultra sound echogram or EMG guidance to identify dystonic muscles can be more benefit for patients.
[Mh] Termos MeSH primário: Toxinas Botulínicas/administração & dosagem
Distúrbios Distônicos/diagnóstico
Distúrbios Distônicos/tratamento farmacológico
[Mh] Termos MeSH secundário: Distúrbios Distônicos/classificação
Distúrbios Distônicos/diagnóstico por imagem
Eletromiografia
Seres Humanos
Injeções Intramusculares
Músculo Esquelético/diagnóstico por imagem
Resultado do Tratamento
Ultrassonografia
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
EC 3.4.24.69 (Botulinum Toxins)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171016
[Lr] Data última revisão:
171016
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170628
[St] Status:MEDLINE
[do] DOI:10.5692/clinicalneurol.cn-001018


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[PMID]:28558098
[Au] Autor:Lohmann K; Redin C; Tönnies H; Bressman SB; Subero JIM; Wiegers K; Hinrichs F; Hellenbroich Y; Rakovic A; Raymond D; Ozelius LJ; Schwinger E; Siebert R; Talkowski ME; Saunders-Pullman R; Klein C
[Ad] Endereço:Institute of Neurogenetics, University Lübeck, Lübeck, Germany.
[Ti] Título:Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia.
[So] Source:JAMA Neurol;74(7):806-812, 2017 Jul 01.
[Is] ISSN:2168-6157
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Importance: Chromosomal rearrangements are increasingly recognized to underlie neurologic disorders and are often accompanied by additional clinical signs beyond the gene-specific phenotypic spectrum. Objective: To elucidate the causal genetic variant in a large US family with co-occurrence of dopa-responsive dystonia as well as skeletal and eye abnormalities (ie, ptosis, myopia, and retina detachment). Design, Setting, and Participants: We examined 10 members of a family, including 5 patients with dopa-responsive dystonia and skeletal and/or eye abnormalities, from a US tertiary referral center for neurological diseases using multiple conventional molecular methods, including fluorescence in situ hybridization and array comparative genomic hybridization as well as large-insert whole-genome sequencing to survey multiple classes of genomic variations. Of note, there was a seemingly implausible transmission pattern in this family due to a mutation-negative obligate mutation carrier. Main Outcomes and Measures: Genetic diagnosis in affected family members and insight into the formation of large deletions. Results: Four members were diagnosed with definite and 1 with probable dopa-responsive dystonia. All 5 affected individuals carried a large heterozygous deletion encompassing all 6 exons of GCH1. Additionally, all mutation carriers had congenital ptosis requiring surgery, 4 had myopia, 2 had retinal detachment, and 2 showed skeletal abnormalities of the hands, ie, polydactyly or syndactyly or missing a hand digit. Two individuals were reported to be free of any disease. Analyses revealed complex chromosomal rearrangements on chromosome 14q21-22 in unaffected individuals that triggered the expansion to a larger deletion segregating with affection status. The expansion occurred recurrently, explaining the seemingly non-mendelian inheritance pattern. These rearrangements included a deletion of GCH1, which likely contributes to the dopa-responsive dystonia, as well as a deletion of BMP4 as a potential cause of digital and eye abnormalities. Conclusions and Relevance: Our findings alert neurologists to the importance of clinical red flags, ie, unexpected co-occurrence of clinical features that may point to the presence of chromosomal rearrangements as the primary disease cause. The clinical management and diagnostics of such patients requires an interdisciplinary approach in modern clinical-diagnostic care.
[Mh] Termos MeSH primário: Proteína Morfogenética Óssea 4/genética
Distúrbios Distônicos/genética
Anormalidades do Olho/genética
GTP Cicloidrolase/genética
Anormalidades Musculoesqueléticas/genética
[Mh] Termos MeSH secundário: Deleção Cromossômica
Seres Humanos
Linhagem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (BMP4 protein, human); 0 (Bone Morphogenetic Protein 4); EC 3.5.4.16 (GTP Cyclohydrolase)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170719
[Lr] Data última revisão:
170719
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170531
[St] Status:MEDLINE
[do] DOI:10.1001/jamaneurol.2017.0666



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