Database : MEDLINE
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[PMID]: 29524658
[Au] Autor:Laurencin C; Sebbag L; Jousserand G; Demontes M; Campean L; Thivolet-Bejui F; Lebre AS; Thobois S
[Ad] Address:Hospices Civils de Lyon, Hôpital Neurologique Pierre Wertheimer, Service de Neurologie C, 69000 Lyon, France; Université de Lyon, CNRS, Institut des Sciences Cognitives Marc Jeannerod, UMR 5229, 69500 Bron, France; Université de Lyon, Université Claude Bernard Lyon 1, Faculté de médecine Lyon Sud Ch
[Ti] Title:Novel XK mutation in a McLeod patient diagnosed after heart transplant.
[So] Source:Clin Neurol Neurosurg;168:64-66, 2018 Mar 01.
[Is] ISSN:1872-6968
[Cp] Country of publication:Netherlands
[La] Language:eng
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180310
[Lr] Last revision date:180310
[St] Status:Publisher

  2 / 16267 MEDLINE  
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[PMID]: 29512295
[Au] Autor:Holley SM; Kamdjou T; Reidling JC; Fury B; Coleal-Bergum D; Bauer G; Thompson LM; Levine MS; Cepeda C
[Ad] Address:Intellectual and Developmental Disabilities Research Center, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, CA, USA.
[Ti] Title:Therapeutic effects of stem cells in rodent models of Huntington's disease: Review and electrophysiological findings.
[So] Source:CNS Neurosci Ther;, 2018 Mar 06.
[Is] ISSN:1755-5949
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:The principal symptoms of Huntington's disease (HD), chorea, cognitive deficits, and psychiatric symptoms are associated with the massive loss of striatal and cortical projection neurons. As current drug therapies only partially alleviate symptoms, finding alternative treatments has become peremptory. Cell replacement using stem cells is a rapidly expanding field that offers such an alternative. In this review, we examine recent studies that use mesenchymal cells, as well as pluripotent, cell-derived products in animal models of HD. Additionally, we provide further electrophysiological characterization of a human neural stem cell line, ESI-017, which has already demonstrated disease-modifying properties in two mouse models of HD. Overall, the field of regenerative medicine represents a viable and promising avenue for the treatment of neurodegenerative disorders including HD.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180310
[Lr] Last revision date:180310
[St] Status:Publisher
[do] DOI:10.1111/cns.12839

  3 / 16267 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 / 16267 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 / 16267 MEDLINE  
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[PMID]: 29511772
[Au] Autor:Reith W
[Ad] Address:Klinik für Diagnostische und Interventionelle Neuroradiologie, Universitätsklinikum des Saarlandes, Kirrberger Straße, 66424, Homburg-Saar, Deutschland. wolfgang.reith@uniklinikum-saarland.de.
[Ti] Title:Neurodegenerative Erkrankungen. [Neurodegenerative diseases].
[So] Source:Radiologe;58(3):241-258, 2018 Mar.
[Is] ISSN:1432-2102
[Cp] Country of publication:Germany
[La] Language:ger
[Ab] Abstract:Neurodegenerative diseases are sporadic and rare hereditary disorders of the central nervous system, which cause a slowly progressive loss of function of specific neuron populations and their connections. Severe impairments and care dependency can be the sequelae. Neurodegenerative disorders are diseases of older people; therefore, the demographic shift leads to an increase in the number of affected patients. Radiologists will also become more involved. For this reason important neurodegenerative diseases are presented in this article. In addition to Alzheimer's and Parkinson's diseases these also include frontotemporal lobar degeneration, Lewy body dementia, vascular dementia, Creutzfeldt-Jakob disease and Huntington's chorea. The clinical symptoms and diagnostics are described, whereby the focus lies on typical results of morphological imaging.
[Pt] Publication type:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180307
[Lr] Last revision date:180307
[St] Status:In-Data-Review
[do] DOI:10.1007/s00117-018-0363-y

  6 / 16267 MEDLINE  
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[PMID]: 29506749
[Au] Autor:Savitt D; Jankovic J
[Ad] Address:Parkinson's Disease and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, TX, United States.
[Ti] Title:Tardive syndromes.
[So] Source:J Neurol Sci;, 2018 Feb 05.
[Is] ISSN:1878-5883
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:Tardive syndromes are a group of hyperkinetic and hypokinetic movement disorders that occur after some delay following exposure to dopamine receptor blocking agents such as antipsychotic and anti-emetic drugs. The severity of these disorders ranges from mild to disabling or even life-threatening. There is a wide range of recognized tardive phenomenologies that may occur in isolation or in combination with each other. These phenomenologies include stereotypy, dystonia, chorea, akathisia, myoclonus, tremor, tics, gait disorders, parkinsonism, ocular deviations, respiratory dyskinesia, and a variety of sensory symptoms. Recognition of the various tardive phenomenologies may not only lead to early diagnosis but also to appropriate therapeutic intervention. This review focuses on the diagnosis and clinical course of tardive syndromes and how to distinguish between the various phenomenologies as well as how to differentiate them from other, similar but etiologically different, movement disorders.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1803
[Cu] Class update date: 180306
[Lr] Last revision date:180306
[St] Status:Publisher

  7 / 16267 MEDLINE  
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[PMID]: 29392776
[Au] Autor:Salpietro V; Perez-Dueñas B; Nakashima K; San Antonio-Arce V; Manole A; Efthymiou S; Vandrovcova J; Bettencourt C; Mencacci NE; Klein C; Kelly MP; Davies CH; Kimura H; Macaya A; Houlden H
[Ad] Address:Department of Molecular Neuroscience, University College of London, London, United Kingdom.
[Ti] Title:A homozygous loss-of-function mutation in PDE2A associated to early-onset hereditary chorea.
[So] Source:Mov Disord;33(3):482-488, 2018 Mar.
[Is] ISSN:1531-8257
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:BACKGROUND: We investigated a family that presented with an infantile-onset chorea-predominant movement disorder, negative for NKX2-1, ADCY5, and PDE10A mutations. METHODS: Phenotypic characterization and trio whole-exome sequencing was carried out in the family. RESULTS: We identified a homozygous mutation affecting the GAF-B domain of the 3',5'-cyclic nucleotide phosphodiesterase PDE2A gene (c.1439A>G; p.Asp480Gly) as the candidate novel genetic cause of chorea in the proband. PDE2A hydrolyzes cyclic adenosine/guanosine monophosphate and is highly expressed in striatal medium spiny neurons. We functionally characterized the p.Asp480Gly mutation and found that it severely decreases the enzymatic activity of PDE2A. In addition, we showed equivalent expression in human and mouse striatum of PDE2A and its homolog gene, PDE10A. CONCLUSIONS: We identified a loss-of-function homozygous mutation in PDE2A associated to early-onset chorea. Our findings possibly strengthen the role of cyclic adenosine monophosphate and cyclic guanosine monophosphate metabolism in striatal medium spiny neurons as a crucial pathophysiological mechanism in hyperkinetic movement disorders. © 2018 The Authors. Movement Disorders published by Wiley Periodicals, Inc. on behalf of International Parkinson and Movement Disorder Society.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180306
[Lr] Last revision date:180306
[St] Status:In-Data-Review
[do] DOI:10.1002/mds.27286

  8 / 16267 MEDLINE  
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[PMID]: 29503328
[Au] Autor:Badheka R; Barad NK; Sankhla CS
[Ad] Address:Department of Neurology, P D Hinduja National Hospital, Mumbai, Maharashtra, India.
[Ti] Title:Pediatric movement disorders.
[So] Source:Neurol India;66(Supplement):S59-S67, 2018 Mar-Apr.
[Is] ISSN:0028-3886
[Cp] Country of publication:India
[La] Language:eng
[Ab] Abstract:Pediatric movement disorders are commonly encountered clinical entities in the pediatric outpatient department. These disorders are a heterogenous group of disorders and may represent an underlying genetic disorder, a metabolic disorder or a hypoxic-ischemic insult during the perinatal period. Hyperkinetic movement disorders are more common as compared to hypokinetic disorders. This is unlike the situation in adult movement disorders where hypokinetic disorders are more often seen. A child's nervous system is more prone to hypoxic-ischemic insults due to its higher metabolic demands and the presence of an immature blood-brain barrier. The commonest movement disorders seen are tics, dystonia and chorea. Myoclonus is commonly associated with epilepsy syndromes. The aetiology of paediatric movement disorders depends on their course, their static or progressive nature, and whether an isolated symptom or an association with other neurological symptoms is present. The clue to the diagnosis is the proper recognition of the movement prevalent in the disorder.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1803
[Cu] Class update date: 180305
[Lr] Last revision date:180305
[St] Status:In-Data-Review
[do] DOI:10.4103/0028-3886.226447

  9 / 16267 MEDLINE  
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[PMID]: 29497277
[Au] Autor:Dean M; Sung VW
[Ad] Address:Department of Neurology, Division of Movement Disorders, University of Alabama at Birmingham, Birmingham, AL, USA.
[Ti] Title:Review of deutetrabenazine: a novel treatment for chorea associated with Huntington's disease.
[So] Source:Drug Des Devel Ther;12:313-319, 2018.
[Is] ISSN:1177-8881
[Cp] Country of publication:New Zealand
[La] Language:eng
[Ab] Abstract:Deutetrabenazine was recently approved for the treatment of chorea in Huntington's disease (HD) and is the first deuterated medication that has been US Food and Drug Administration (FDA)-approved for therapeutic use. In this article, we review deutetrabenazine's drug design, pharmacokinetics, drug interactions, efficacy, adverse events, comparison with tetrabenazine, dosage, and administration. Deutetrabenazine is a deuterated form of tetrabenazine and is a vesicular monoamine transporter 2 (VMAT2) inhibitor. The substitution of deuterium for hydrogen at key positions in the tetrabenazine molecule allows a longer drug half-life and less frequent daily dosing. Deutetrabenazine is administered twice daily up to a maximum daily dose of 48 mg, which corresponds to a similar daily dose of 100 mg of tetrabenazine. In a Phase III clinical trial (First-HD), there was a statistically significant improvement of chorea in HD subjects, as well as improvements in global impression of change as assessed by both patients and clinicians. This improvement was seen without significant adverse effects as the overall tolerability profile of deutetrabenazine was similar to placebo. Somnolence was the most commonly reported symptom in the deutetrabenazine group. In a study where subjects converted from tetrabenazine to deutetrabenazine in an open-label fashion (ARC-HD) and indirect comparison studies between tetrabenazine and deutetrabenazine, there is a suggestion that while efficacy for chorea is similar, the data may slightly favor tetrabenazine, but adverse effects and tolerability strongly favor deutetrabenazine. These data have not been replicated in true head-to-head studies. Current evidence supports that deutetrabenazine is an effective therapeutic treatment option for chorea in HD and may provide a more favorable adverse effect profile than tetrabenazine. However, more data are needed, particularly in the form of head-to-head studies between deutetrabenazine and other treatment options as well as longer term clinical experience with deutetrabenazine.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1803
[Cu] Class update date: 180304
[Lr] Last revision date:180304
[St] Status:In-Process
[do] DOI:10.2147/DDDT.S138828

  10 / 16267 MEDLINE  
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[PMID]: 29353725
[Au] Autor:Haider A; Spinelli F; Herde AM; Mu B; Keller C; Margelisch M; Weber M; Schibli R; Mu L; Ametamey SM
[Ad] Address:Institute of Pharmaceutical Sciences, ETH Zürich, 8093 Zürich, Switzerland.
[Ti] Title:Evaluation of 4-oxo-quinoline-based CB2 PET radioligands in R6/2 chorea huntington mouse model and human ALS spinal cord tissue.
[So] Source:Eur J Med Chem;145:746-759, 2018 Feb 10.
[Is] ISSN:1768-3254
[Cp] Country of publication:France
[La] Language:eng
[Ab] Abstract:The cannabinoid receptor 2 (CB2) has been implicated in a series of neurodegenerative disorders and has emerged as an interesting biological target for therapeutic as well as diagnostic purposes. In the present work, we describe an improved radiosynthetic approach to obtain the previously reported CB2-specific PET radioligand [ F]RS-126 in higher radiochemical yields and molar activities. Additionally, the study revealed that prolongation of the [ F]RS-126 fluoroalkyl side chain ultimately leads to an improved stability towards mouse liver enzymes but is accompanied by a reduction in selectivity over the cannabinoid receptor 1 (CB1). Huntington-related phenotypic changes as well as striatal D2R downregulation were confirmed for the transgenic R6/2 mouse model. CB2 upregulation in R6/2 Chorea Huntington mice was observed in hippocampus, cortex, striatum and cerebellum by qPCR, however, these results could not be confirmed at the protein level by PET imaging. Furthermore, we evaluated the utility of the newly developed [ C]RS-028, a potent [ F]RS-126 derivative with increased polarity and high selectivity over CB1 in post-mortem human ALS spinal cord and control tissue. Applying in vitro autoradiography, the translational relevance of CB2 imaging was demonstrated by the specific binding of [ C]RS-028 to post-mortem human ALS spinal cord tissue.
[Mh] MeSH terms primary: Amyotrophic Lateral Sclerosis/diagnostic imaging
Huntington Disease/diagnostic imaging
Quinolines/chemistry
Radiopharmaceuticals/chemistry
Receptor, Cannabinoid, CB2/metabolism
Spinal Cord/diagnostic imaging
[Mh] MeSH terms secundary: Animals
Disease Models, Animal
Dose-Response Relationship, Drug
Fluorine Radioisotopes
Humans
Mice
Mice, Inbred C57BL
Mice, Transgenic
Molecular Structure
Positron-Emission Tomography
Quinolines/chemical synthesis
Radiopharmaceuticals/chemical synthesis
Rats
Rats, Wistar
Structure-Activity Relationship
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (Fluorine Radioisotopes); 0 (Quinolines); 0 (Radiopharmaceuticals); 0 (Receptor, Cannabinoid, CB2); E66400VT9R (quinoline)
[Em] Entry month:1803
[Cu] Class update date: 180302
[Lr] Last revision date:180302
[Js] Journal subset:IM
[Da] Date of entry for processing:180123
[St] Status:MEDLINE


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