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[PMID]: 29520331
[Au] Autor:Oterdoom DLM; van Egmond ME; Ascencao LC; van Dijk JMC; Saryyeva A; Beudel M; Runge J; de Koning TJ; Abdallat M; Eggink H; Tijssen MAJ; Krauss JK
[Ad] Address:Department of Neurosurgery, University of Groningen, University Medical Center Groningen, the Netherlands.
[Ti] Title:Reversal of Status Dystonicus after Relocation of Pallidal Electrodes in DYT6 Generalized Dystonia.
[So] Source:Tremor Other Hyperkinet Mov (N Y);8:530, 2018.
[Is] ISSN:2160-8288
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Background: DYT6 dystonia can have an unpredictable clinical course and the result of deep brain stimulation (DBS) of the internal part of the globus pallidus (GPi) is known to be less robust than in other forms of autosomal dominant dystonia. Patients who had previous stereotactic surgery with insufficient clinical benefit form a particular challenge with very limited other treatment options available. Case Report: A pediatric DYT6 patient unexpectedly deteriorated to status dystonicus 1 year after GPi DBS implantation with good initial clinical response. After repositioning the DBS electrodes the status dystonicus resolved. Discussion: This case study demonstrates that medication-resistant status dystonicus in DYT6 dystonia can be reversed by relocation of pallidal electrodes. This case highlights that repositioning of DBS electrodes may be considered in patients with status dystonicus, especially when the electrode position is not optimal, even after an initial clinical response to DBS.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180311
[Lr] Last revision date:180311
[St] Status:In-Data-Review
[do] DOI:10.7916/D82F90DX

  2 / 17235 MEDLINE  
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[PMID]: 28454738
[Au] Autor:Miksys S; Wadji FB; Tolledo EC; Remington G; Nobrega JN; Tyndale RF
[Ad] Address:Centre for Addiction and Mental Health, Campbell Family Mental Health Research Institute, Toronto, Canada; Department of Pharmacology and Toxicology, University of Toronto, Canada. Electronic address: s.miksys@utoronto.ca.
[Ti] Title:Rat brain CYP2D enzymatic metabolism alters acute and chronic haloperidol side-effects by different mechanisms.
[So] Source:Prog Neuropsychopharmacol Biol Psychiatry;78:140-148, 2017 Aug 01.
[Is] ISSN:1878-4216
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Risk for side-effects after acute (e.g. parkinsonism) or chronic (e.g. tardive dyskinesia) treatment with antipsychotics, including haloperidol, varies substantially among people. CYP2D can metabolize many antipsychotics and variable brain CYP2D metabolism can influence local drug and metabolite levels sufficiently to alter behavioral responses. Here we investigated a role for brain CYP2D in acutely and chronically administered haloperidol levels and side-effects in a rat model. Rat brain, but not liver, CYP2D activity was irreversibly inhibited with intracerebral propranolol and/or induced by seven days of subcutaneous nicotine pre-treatment. The role of variable brain CYP2D was investigated in rat models of acute (catalepsy) and chronic (vacuous chewing movements, VCMs) haloperidol side-effects. Selective inhibition and induction of brain, but not liver, CYP2D decreased and increased catalepsy after acute haloperidol, respectively. Catalepsy correlated with brain, but not hepatic, CYP2D enzyme activity. Inhibition of brain CYP2D increased VCMs after chronic haloperidol; VCMs correlated with brain, but not hepatic, CYP2D activity, haloperidol levels and lipid peroxidation. Baseline measures, hepatic CYP2D activity and plasma haloperidol levels were unchanged by brain CYP2D manipulations. Variable rat brain CYP2D alters side-effects from acute and chronic haloperidol in opposite directions; catalepsy appears to be enhanced by a brain CYP2D-derived metabolite while the parent haloperidol likely causes VCMs. These data provide novel mechanistic evidence for brain CYP2D altering side-effects of haloperidol and other antipsychotics metabolized by CYP2D, suggesting that variation in human brain CYP2D may be a risk factor for antipsychotic side-effects.
[Mh] MeSH terms primary: Brain/drug effects
Brain/enzymology
Cytochrome P450 Family 2/metabolism
Haloperidol/adverse effects
[Mh] MeSH terms secundary: Animals
Brain/metabolism
Catalepsy/chemically induced
Haloperidol/blood
Liver/enzymology
Male
Microinjections
Nicotine/administration & dosage
Nicotine/pharmacology
Propranolol/administration & dosage
Propranolol/pharmacology
Rats
Tardive Dyskinesia/chemically induced
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:6M3C89ZY6R (Nicotine); 9Y8NXQ24VQ (Propranolol); EC 1.14.14.1 (Cytochrome P450 Family 2); J6292F8L3D (Haloperidol)
[Em] Entry month:1803
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[Js] Journal subset:IM
[Da] Date of entry for processing:170430
[St] Status:MEDLINE

  3 / 17235 MEDLINE  
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[PMID]: 29519947
[Au] Autor:Raucci U; Parisi P; Vanacore N; Garone G; Bondone C; Palmieri A; Calistri L; Suppiej A; Falsaperla R; Capuano A; Ferro V; Urbino AF; Tallone R; Montemaggi A; Sartori S; Pavone P; Mancardi M; Melani F; Ilvento L; Pelizza MF; Reale A
[Ad] Address:Pediatric Emergency Department, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
[Ti] Title:Acute hyperkinetic movement disorders in Italian paediatric emergency departments.
[So] Source:Arch Dis Child;, 2018 Mar 08.
[Is] ISSN:1468-2044
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:INTRODUCTION: Limited data exist on epidemiology, clinical presentation and management of acute hyperkinetic movement disorders (AHMD) in paediatric emergency departments (pED). METHODS: We retrospectively analysed a case series of 256 children (aged 2 months to 17 years) presenting with AHMD to the pEDs of six Italian tertiary care hospitals over a 2-year period (January 2012 to December 2013). RESULTS: The most common type of AHMD was tics (44.5%), followed by tremors (21.1%), chorea (13.7%), dystonia (10.2%), myoclonus (6.3%) and stereotypies (4.3%).Neuropsychiatric disorders (including tic disorders, psychogenic movement disorders and idiopathic stereotypies) were the most represented cause (51.2%). Inflammatory conditions (infectious and immune-mediated neurological disorders) accounted for 17.6% of the cases whereas non-inflammatory disorders (including drug-induced AHMDs, genetic/metabolic diseases, paroxysmal non-epileptic movements and idiopathic AHMDs) accounted for 31.2%. Neuropsychiatric disorders prevailed among preschoolers and schoolers (51.9% and 25.2%, respectively), non-inflammatory disorders were more frequent in infants and toddlers (63.8%), whereas inflammatory conditions were more often encountered among schoolers (73.3%). In 5 out of 36 Sydenham's chorea (SC) cases, tics were the presentation symptom on admission to emergency department (ED), highlighting the difficulties in early diagnosis of SC. Inflammatory disorders were associated with a longer hospital stay and a greater need of neuroimaging test compared with other disorders. CONCLUSIONS: This study provides the first large sample of paediatric patients presenting to the ED for AHMDs, helping to elucidate the epidemiology, aetiology and clinical presentation of these disorders.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[St] Status:Publisher

  4 / 17235 MEDLINE  
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[PMID]: 29518281
[Au] Autor:Gauthier J; Meijer IA; Lessel D; Mencacci NE; Krainc D; Hempel M; Tsiakas K; Prokisch H; Rossignol E; Helm MH; Rodan LH; Karamchandani J; Carecchio M; Lubbe SJ; Telegrafi A; Henderson LB; Lorenzo K; Wallace SE; Glass IA; Hamdan FF; Michaud JL; Rouleau GA; Campeau PM
[Ad] Address:Molecular Diagnostic Laboratory and Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine, Montreal, Canada.
[Ti] Title:Recessive mutations in VPS13D cause childhood-onset movement disorders.
[So] Source:Ann Neurol;, 2018 Mar 08.
[Is] ISSN:1531-8249
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:VPS13 protein family members, VPS13A through VPS13C, have been associated with various recessive movement disorders. We describe the first disease association of rare recessive VPS13D variants including a frameshift, missense and a partial duplication with a novel complex, hyperkinetic neurological disorder. The clinical features include developmental delay, a childhood onset movement disorder (chorea, dystonia or tremor) and progressive spastic ataxia or paraparesis. Characteristic brain MRI shows basal ganglia or diffuse white matter T2 hyperintensities as seen in Leigh syndrome and chorea-acanthocytosis. Muscle biopsy in one case showed mitochondrial aggregates and lipidosis, suggesting mitochondrial dysfunction. These findings underline the importance of the VPS13 complex in neurological disease and a possible role in mitochondrial function. This article is protected by copyright. All rights reserved.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:Publisher
[do] DOI:10.1002/ana.25204

  5 / 17235 MEDLINE  
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[PMID]: 29460980
[Au] Autor:Morris AE; Norris SA; Perlmutter JS; Mink JW
[Ad] Address:Medical Scientist Training Program, University of Rochester, Rochester, New York, USA.
[Ti] Title:Quantitative, clinically relevant acoustic measurements of focal embouchure dystonia.
[So] Source:Mov Disord;33(3):449-458, 2018 Mar.
[Is] ISSN:1531-8257
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:BACKGROUND: Focal embouchure dystonia impairs orofacial motor control in wind musicians and causes professional disability. A paucity of quantitative measures or rating scales impedes the objective assessment of treatment efficacy. OBJECTIVES: We quantified specific features of focal embouchure dystonia using acoustic measures and developed a metric to assess severity across multiple domains of symptomatic impairment. METHODS: We recruited 9 brass musicians with and 6 without embouchure dystonia. The following 4 domains of symptomatic dysfunction in focal embouchure dystonia were identified: pitch inaccuracy, sound instability and tremor, sound breaks, and timing variability. Musicians performed sustained tones and sequences, and then acoustic variables within each domain were quantified. A composite brass acoustic severity score composed of these variables was validated against clinical global impressions of severity. RESULTS: Musicians with dystonia performed worse in acoustic domains of pitch inaccuracy (median: dystonia = 100%, control = 62%), instability (median shimmer: dystonia = 3%, control = 2%), and breaks (median: dystonia = 0.34%, control = 0.05%). Tremor in embouchure dystonia was 5 to 8 Hz, intermittent, and variable in amplitude. Rhythmic variability did not differ between groups. Participants with embouchure dystonia had different patterns of impairment across variables. Composite severity scores strongly predicted clinical global impression of severity (R = 0.95). CONCLUSIONS: Acoustic variables distinguish musicians with embouchure dystonia from controls and reflect different types of symptomatic impairments. Our composite acoustic severity score predicts severity of clinical global impression for musicians with different patterns of symptomatic impairment and may provide a foundation for developing a clinical rating scale. © 2018 International Parkinson and Movement Disorder Society.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[St] Status:In-Data-Review
[do] DOI:10.1002/mds.27298

  6 / 17235 MEDLINE  
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[PMID]: 29517110
[Au] Autor:van de Velde SK; Cashin M; Johari R; Blackshaw R; Khot A; Graham HK
[Ad] Address:Orthopaedic Department, The Royal Children's Hospital, Parkville, Victoria, Australia.
[Ti] Title:Symptomatic hallux valgus and dorsal bunion in adolescents with cerebral palsy: clinical and biomechanical factors.
[So] Source:Dev Med Child Neurol;, 2018 Mar 08.
[Is] ISSN:1469-8749
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:AIM: The prevalence of severely symptomatic deformities of the first metatarsophalangeal (MTP) joint in adolescents with cerebral palsy (CP) requiring arthrodesis is unknown. Recent literature regarding these deformities is limited. We studied the presentation of severe, symptomatic deformities of the first ray in a large population of children and adolescents with CP and their association with gross motor function, CP subtype, and other musculoskeletal deformities. METHOD: We identified 41 patients with CP and a symptomatic deformity of the first MTP joint, managed by arthrodesis, from a large population based database over a 21-year period. Information recorded included demographics, CP subtype, Gross Motor Function Classification System (GMFCS), clinical presentation, and radiological features. RESULTS: Adolescents with spastic diplegia, at GMFCS levels II and III, were the most common group to develop symptomatic hallux valgus. In contrast, non-ambulant adolescents, at GMFCS levels IV and V, with dystonia or mixed tone, more commonly had dorsal bunions. INTERPRETATION: The type of first MTP joint deformity in patients with CP may be predicted by the type and distribution of movement disorder, and by GMFCS level. Specific patterns of associated musculoskeletal deformities may contribute to the development of these disorders and may provide a guide to surgical management. WHAT THIS PAPER ADDS: The prevalence of severe bunions requiring fusion surgery was 2%. The two types of bunion were hallux valgus and dorsal bunion. The type of bunion can be identified on both clinical and radiological grounds. The cerebral palsy subtype is predictive of the type of bunion.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:Publisher
[do] DOI:10.1111/dmcn.13724

  7 / 17235 MEDLINE  
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[PMID]: 29412426
[Au] Autor:Nicolini-Panisson RD; Tedesco AP; Folle MR; Donadio MVF
[Ad] Address:Pontifícia Universidade Católica do Rio Grande do Sul, Porto Alegre, RS, Brasil.
[Ti] Title:RIZOTOMIA DORSAL SELETIVA NA PARALISIA CEREBRAL: CRITÉRIOS DE INDICAÇÃO E PROTOCOLOS DE REABILITAÇÃO FISIOTERAPÊUTICA PÓS-OPERATÓRIA. SELECTIVE DORSAL RHIZOTOMY IN CEREBRAL PALSY: SELECTION CRITERIA AND POSTOPERATIVE PHYSICAL THERAPY PROTOCOLS.
[So] Source:Rev Paul Pediatr;36(1):9, 2018 Jan-Mar.
[Is] ISSN:1984-0462
[Cp] Country of publication:Brazil
[La] Language:eng; por
[Ab] Abstract:OBJECTIVE: To identify selection criteria for selective dorsal rhizotomy (SDR) in cerebral palsy, to analyze the instruments used for evaluation, and to describe the characteristics of physical therapy in postoperative protocols. DATA SOURCES: Integrative review performed in the following databases: SciELO, PEDro, Cochrane Library, and PubMed. The terms in both Portuguese and English for "cerebral palsy", "selective dorsal rhizotomy", and "physical therapy" were used in the search. Studies whose samples enrolled individuals with cerebral palsy who had attended physical therapy sessions for selective dorsal rhizotomy according to protocols and describing such protocols' characteristics were included. Literature reviews were excluded and there was no restriction as to period of publication. DATA SYNTHESIS: Eighteen papers were selected, most of them being prospective cohort studies with eight-month to ten-year follow-ups. In most studies, the instruments of assessment encompassed the domains of functions, body structure, and activity. The percentage of posterior root sections was close to 50%. Primary indications for SDR included ambulatory spastic diplegia, presence of spasticity that interfered with mobility, good strength of lower limbs and trunk muscles, no musculoskeletal deformities, dystonia, ataxia or athetosis, and good cognitive function. Postoperative physical therapy is part of SDR treatment protocols and should be intensive and specific, being given special emphasis in the first year. CONCLUSIONS: The studies underline the importance of appropriate patient selection to obatin success in the SDR. Postoperative physical therapy should be intensive and long-term, and must necessarily include strategies to modify the patient's former motor pattern.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:In-Process

  8 / 17235 MEDLINE  
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[PMID]: 29511323
[Au] Autor:Low KJ; Stals K; Caswell R; Wakeling M; Clayton-Smith J; Donaldson A; Foulds N; Norman A; Splitt M; Urankar K; Vijayakumar K; Majumdar A; Study D; Ellard S; Smithson SF
[Ad] Address:Department of Clinical Genetics, St Michaels Hospital, Bristol, UK.
[Ti] Title:Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy.
[So] Source:Eur J Hum Genet;, 2018 Mar 06.
[Is] ISSN:1476-5438
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:CHN is genetically heterogeneous and its genetic basis is difficult to determine on features alone. CNTNAP1 encodes CASPR, integral in the paranodal junction high molecular mass complex. Nineteen individuals with biallelic variants have been described in association with severe congenital hypomyelinating neuropathy, respiratory compromise, profound intellectual disability and death within the first year. We report 7 additional patients ascertained through exome sequencing. We identified 9 novel CNTNAP1 variants in 6 families: three missense variants, four nonsense variants, one frameshift variant and one splice site variant. Significant polyhydramnios occurred in 6/7 pregnancies. Severe respiratory compromise was seen in 6/7 (tracheostomy in 5). A complex neurological phenotype was seen in all patients who had marked brain hypomyelination/demyelination and profound developmental delay. Additional neurological findings included cranial nerve compromise: orobulbar dysfunction in 5/7, facial nerve weakness in 4/7 and vocal cord paresis in 5/7. Dystonia occurred in 2/7 patients and limb contractures in 5/7. All had severe gastroesophageal reflux, and a gastrostomy was required in 5/7. In contrast to most previous reports, only one patient died in the first year of life. Protein modelling was performed for all detected CNTNAP1 variants. We propose a genotype-phenotype correlation, whereby hypomorphic missense variants partially ameliorate the phenotype, prolonging survival. This study suggests that biallelic variants in CNTNAP1 cause a distinct recognisable syndrome, which is not caused by other genes associated with CHN. Neonates presenting with this phenotype will benefit from early genetic definition to inform clinical management and enable essential genetic counselling for their families.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180307
[Lr] Last revision date:180307
[St] Status:Publisher
[do] DOI:10.1038/s41431-018-0110-x

  9 / 17235 MEDLINE  
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[PMID]: 29483592
[Au] Autor:Sadnicka A; Stevenson A; Bhatia KP; Rothwell JC; Edwards MJ; Galea JM
[Ad] Address:Sobell Department for Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, 33 Queen Square, London, WC1N 3BG, UK. a.sadnicka@ucl.ac.uk.
[Ti] Title:High motor variability in DYT1 dystonia is associated with impaired visuomotor adaptation.
[So] Source:Sci Rep;8(1):3653, 2018 Feb 26.
[Is] ISSN:2045-2322
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:For the healthy motor control system, an essential regulatory role is maintaining the equilibrium between keeping unwanted motor variability in check whilst allowing informative elements of motor variability. Kinematic studies in children with generalised dystonia (due to mixed aetiologies) show that movements are characterised by increased motor variability. In this study, the mechanisms by which high motor variability may influence movement generation in dystonia were investigated. Reaching movements in the symptomatic arm of 10 patients with DYT1 dystonia and 12 age-matched controls were captured using a robotic manipulandum and features of motor variability were extracted. Given that task-relevant variability and sensorimotor adaptation are related in health, markers of variability were then examined for any co-variance with performance indicators during an error-based learning visuomotor adaptation task. First, we confirmed that motor variability on a trial-by-trial basis was selectively increased in the homogenous and prototypical dystonic disorder DYT1 dystonia. Second, high baseline variability predicted poor performance in the subsequent visuomotor adaptation task offering insight into the rules which appear to govern dystonic motor control. The potential mechanisms behind increased motor variability and its corresponding implications for the rehabilitation of patients with DYT1 dystonia are highlighted.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180307
[Lr] Last revision date:180307
[St] Status:In-Data-Review
[do] DOI:10.1038/s41598-018-21545-0

  10 / 17235 MEDLINE  
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[PMID]: 29290055
[Au] Autor:Lin JJ; Lu CS; Tsai CH
[Ad] Address:Department of Neurology, Chushang Show-Chwan Hospital, No. 75, Sec. 2, Chi-Shang Rd, Chushang Jenn, 557, Nantou county, Taiwan, ROC. jameslin29@gmail.com.
[Ti] Title:Variability of presynaptic nigrostriatal dopaminergic function and clinical heterogeneity in a dopa-responsive dystonia family with GCH-1 gene mutation.
[So] Source:J Neurol;265(3):478-485, 2018 Mar.
[Is] ISSN:1432-1459
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:We studied the presynaptic nigrostriatal dopaminergic function using single photon emission computed tomography (SPECT) imaging of a Tc-TRODAT-1 (TRODAT) scan in a dopa-responsive dystonia (DRD) family with the guanosine triphosphate cyclohydrolase 1 (GCH-1) gene mutation. Clinically, there was presentation of intrafamilial variability in the DRD family. The index patient was a 10-year-old girl with classic DRD and normal presynaptic nigrostriatal dopaminergic function. However, her grandmother, a 79-year-old woman, presented with slowly progressive Parkinson's disease (PD) without dystonic symptoms and excellent response to dopaminergic therapy for 21 years. Her brain TRODAT SPECT imaging revealed a markedly and asymmetrically reduced uptake of dopamine transporter at the bilateral striatum. Her father, a 54-year-old man, was an asymptomatic gene carrier and his brain TRODAT SPECT imaging revealed asymmetrically reduced nigrostriatal dopaminergic transmission in the bilateral striatum. We conclude variability of presynaptic nigrostriatal dopaminergic function in patients with DRD is related to their clinical heterogeneity. Significantly, impairment of presynaptic dopamine function actually occurs in the asymptomatic gene carrier.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180307
[Lr] Last revision date:180307
[St] Status:In-Process
[do] DOI:10.1007/s00415-017-8723-5


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