当前期刊: Movement Disorders Go to current issue    加入关注   
显示样式:        排序: 导出
  • Factor Analysis and Clustering of the Movement Disorder Society–Non‐Motor Rating Scale
    Mov. Disord. (IF 8.061) Pub Date : 2020-03-27
    Pablo Martinez‐Martin; Jose Manuel Rojo‐Abuín; Daniel Weintraub; Kallol Ray Chaudhuri; Carmen Rodriguez‐Blázquez; Alexandra Rizos; Anette Schrag

    The primary validation of the Movement Disorder Society Non‐Motor Rating Scale was recently published, but 2 important structural analyses were not included. The objective of this study was to examine the structural characteristics of the Movement Disorder Society Non‐Motor Rating Scale by factor and cluster analyses.

  • Progressive Supranuclear Palsy and Statin Use
    Mov. Disord. (IF 8.061) Pub Date : 2020-03-27
    Ece Bayram; Connie Marras; David G. Standaert; Benzi M. Kluger; Yvette M. Bordelon; David R. Shprecher; Irene Litvan;

    Statins were proposed to be neuroprotective; however, the effects are unknown in progressive supranuclear palsy (PSP), a pure tauopathy.

  • A Phase 2a Trial Investigating the Safety and Tolerability of the Novel Cortical Enhancer IRL752 in Parkinson's Disease Dementia
    Mov. Disord. (IF 8.061) Pub Date : 2020-03-21
    Per Svenningsson; Per Odin; Nil Dizdar; Anders Johansson; Sotirios Grigoriou; Panagiota Tsitsi; Klas Wictorin; Filip Bergquist; Dag Nyholm; Juha Rinne; Fredrik Hansson; Clas Sonesson; Joakim Tedroff;

    IRL752 is a novel small‐molecule compound that acts to regioselectively enhance norepinephrine, dopamine, and acetylcholine neurotransmission in the cerebral cortex.

  • Defective Human Motion Perception in Cervical Dystonia Correlates with Coexisting Tremor
    Mov. Disord. (IF 8.061) Pub Date : 2020-03-21
    Davide Martino; Gaia Bonassi; Giovanna Lagravinese; Elisa Pelosin; Giovanni Abbruzzese; Laura Avanzino

    The ability to predict temporal outcome of body movement is abnormal in idiopathic dystonia and can be altered by cerebellar neuromodulation. Tremor in cervical dystonia might be associated with performance on motion perception tasks.

  • MRI of Motor and Nonmotor Therapy‐Induced Complications in Parkinson's Disease
    Mov. Disord. (IF 8.061) Pub Date : 2020-03-17
    Giulia Donzuso; Federica Agosta; Elisa Canu; Massimo Filippi

    Levodopa therapy remains the most effective drug for the treatment of Parkinson's disease, and it is associated with the greatest improvement in motor function as assessed by the Unified Parkinson's Disease Rating Scale. Dopamine agonists have also proven their efficacy as monotherapy in early Parkinson's disease but also as adjunct therapy. However, the chronic use of dopaminergic therapy is associated

  • Semiquantitative Scale for Assessing Brain MRI Abnormalities in Wilson Disease: A Validation Study
    Mov. Disord. (IF 8.061) Pub Date : 2020-03-17
    Petr Dusek; Lukasz Smolinski; Barbara Redzia‐Ogrodnik; Marek Golebiowski; Marta Skowronska; Aurelia Poujois; Chloe Laurencin; Iwona Jastrzebska‐Kurkowska; Tomasz Litwin; Anna Członkowska

    MRI is a sensitive method for the assessment of brain abnormalities in Wilson disease, that is, T2 hyperintensities, T2 hypointensities, and atrophy, but a validated scoring system for the classification of radiological severity is lacking. The objective of this study was to develop and validate a brain MRI visual rating scale for Wilson disease.

  • Re‐emergent Tremor in Parkinson's Disease: The Role of the Motor Cortex
    Mov. Disord. (IF 8.061) Pub Date : 2020-03-16
    Giorgio Leodori; Daniele Belvisi; Maria I. De Bartolo; Andrea Fabbrini; Matteo Costanzo; Felipe Vial; Antonella Conte; Mark Hallett; Alfredo Berardelli

    Parkinson's disease patients may show a tremor that appears after a variable delay while the arms are kept outstretched (re‐emergent tremor). The objectives of this study were to investigate re‐emergent tremor pathophysiology by studying the role of the primary motor cortex in this tremor and making a comparison with rest tremor.

  • Striatal Dopamine Denervation Impairs Gait Automaticity in Drug‐Naïve Parkinson's Disease Patients
    Mov. Disord. (IF 8.061) Pub Date : 2020-03-12
    Kosei Hirata; Takaaki Hattori; Satoko Kina; Qingmeng Chen; Masahiro Ohara; Takanori Yokota

    Gait automaticity, which is impaired in patients with Parkinson's disease (PD), can be quantified by gait variability analysis. Among the 3 regions of the striatum (sensorimotor, executive, and limbic), the sensorimotor region may play a crucial role in motor automaticity in healthy individuals. However, neural correlates of impaired gait automaticity are poorly investigated in PD.

  • Dopamine Transporter, Age, and Motor Complications in Parkinson's Disease: A Clinical and Single‐Photon Emission Computed Tomography Study
    Mov. Disord. (IF 8.061) Pub Date : 2020-03-10
    Giovanni Palermo; Sara Giannoni; Daniela Frosini; Riccardo Morganti; Duccio Volterrani; Ubaldo Bonuccelli; Nicola Pavese; Roberto Ceravolo

    Previous molecular imaging studies comparing dopamine function in vivo between early‐onset PD and late‐onset PD patients have shown contradictory results, presumably attributable to the aging‐related decline in nigrostriatal function.

  • Plasma Short‐Chain Fatty Acids in Patients With Parkinson's Disease
    Mov. Disord. (IF 8.061) Pub Date : 2020-03-10
    Chaewon Shin; Yunsook Lim; Hyewon Lim; Tae‐Beom Ahn

    Short‐chain fatty acids are exclusively produced by gut microbiota and are reduced in feces of patients with Parkinson's disease (PD). The objective of this study was to conduct a case–control study on peripheral concentration of short‐chain fatty acids based on evidence of pathologic changes in the blood–brain barrier in PD and the possible role of short‐chain fatty acids in blood–brain barrier permeability

  • Aromatic L‐Amino Acid Decarboxylase Gene Therapy Enhances Levodopa Response in Parkinson's Disease
    Mov. Disord. (IF 8.061) Pub Date : 2020-03-09
    John G. Nutt; Carolin Curtze; Amie Hiller; Shannon Anderson; Paul S. Larson; Amber D. Van Laar; R. Mark Richardson; Marin E. Thompson; Alexander Sedkov; Mika Leinonen; Bernard Ravina; Krystof S. Bankiewicz; Chadwick W. Christine

    As Parkinson's disease progresses, levodopa treatment loses efficacy, partly through the loss of the endogenous dopamine‐synthesizing enzyme L‐amino acid decarboxylase (AADC). In the phase I PD‐1101 study, putaminal administration of VY‐AADC01, an investigational adeno‐associated virus serotype‐2 vector for delivery of the AADC gene in patients with advanced Parkinson's disease, was well tolerated

  • Lack of Asymmetry of Nigrostriatal Dopaminergic Function in Healthy Subjects
    Mov. Disord. (IF 8.061) Pub Date : 2020-03-06
    Alicia Garrido; Alex Iranzo; Ambra Stefani; Mònica Serradell; Amaia Muñoz‐Lopetegi; Paula Marrero; Birgit Högl; Carles Gaig; Joan Santamaria; Eduard Tolosa; Werner Poewe;

    In right‐handed patients with Parkinson's disease (PD) or isolated rapid eye movement sleep behavior disorder, dopamine transporter (DAT) [(123)I]β‐carboxymethyoxy‐3‐β‐(4‐iodophenyl) tropane single photon emission computed tomography (SPECT) shows predominant nigrostriatal deficit in the left striatum. This suggests that in PD patients, the nigrostriatal system of the dominant hemisphere is more susceptible

  • Association of Tripartite Motif Containing 11 rs564309 with Tau Pathology in Progressive Supranuclear Palsy
    Mov. Disord. (IF 8.061) Pub Date : 2020-03-06
    Rebecca R. Valentino; Shunsuke Koga; Michael G. Heckman; Danielle E. Brushaber; Nancy N. Diehl; Ronald L. Walton; Dennis W. Dickson; Owen A. Ross

    Intronic variant rs564309 in tripartite motif containing 11 (TRIM11) is associated with clinical phenotypic differences in progressive supranuclear palsy (PSP), whereby the minor allele (A) is more common in atypical PSP than typical PSP (PSP‐Richardson's syndrome). However, rs564309 has not been investigated relative to neuropathological outcomes.

  • Altered Cerebello-Motor Network in Familial Cortical Myoclonic Tremor With Epilepsy Type 1.
    Mov. Disord. (IF 8.061) Pub Date : 2020-03-04
    Bo Wang,Jue Wang,Zhidong Cen,Wei Wei,Fei Xie,You Chen,Haiyang Sun,Yunsong Hu,Dehao Yang,Yuting Lou,Xinhui Chen,Zhiyuan Ouyang,Si Chen,Haotian Wang,Lebo Wang,Shuang Wang,Xia Qiu,Yao Ding,Houmin Yin,Sheng Wu,Baorong Zhang,Yu-Feng Zang,Wei Luo

    BACKGROUND Intronic pentanucleotide insertion in the sterile alpha motif domain-containing 12 gene was recently identified as the genetic cause of familial cortical myoclonic tremor with epilepsy type 1. OBJECTIVES We thereafter conducted a multimodal MRI research to further understand familial cortical myoclonic tremor with epilepsy type 1. METHODS We enrolled 31 patients carrying heterozygous pathogenic

  • Cerebrospinal Fluid Cytokines and Neurodegeneration‐Associated Proteins in Parkinson's Disease
    Mov. Disord. (IF 8.061) Pub Date : 2020-03-04
    Ruwani S. Wijeyekoon; Sarah F. Moore; Krista Farrell; David P. Breen; Roger A. Barker; Caroline H. Williams‐Gray

    Immune markers are altered in Parkinson's disease (PD), but relationships between cerebrospinal fluid (CSF) and plasma cytokines and associations with neurodegeneration‐associated proteins remain unclear.

  • Copathology in Progressive Supranuclear Palsy: Does It Matter?
    Mov. Disord. (IF 8.061) Pub Date : 2020-03-03
    Milica Jecmenica Lukic,Carolin Kurz,Gesine Respondek,Oriol Grau-Rivera,Yaroslau Compta,Ellen Gelpi,Claire Troakes,,John C van Swieten,Armin Giese,Sigrun Roeber,Thomas Arzberger,Günter Höglinger

    BACKGROUND The influence of concomitant brain pathologies on the progression rate in PSP is unclear. OBJECTIVES To analyze the frequency and severity of copathologies and their impact on the progression in PSP. METHODS We analyzed clinic-pathological features of 101 PSP patients. Diagnoses and stages of copathologies were established according to standardized criteria, including Alzheimer's disease-related

  • Identifying the Functional Brain Network of Motor Reserve in Early Parkinson's Disease
    Mov. Disord. (IF 8.061) Pub Date : 2020-02-24
    Seok Jong Chung; Hang‐Rai Kim; Jin Ho Jung; Phil Hyu Lee; Yong Jeong; Young H. Sohn

    The severity of motor symptoms in Parkinson's disease (PD) does not always correlate with the degree of nigral dopaminergic neuronal loss. Individuals with greater motor reserve may have milder motor signs than their striatal dopamine loss. In this study, we explored the functional brain network associated with motor reserve in early‐stage PD.

  • Implications of the Gut Microbiome in Parkinson's Disease
    Mov. Disord. (IF 8.061) Pub Date : 2020-02-24
    Mohamed Elfil; Serageldin Kamel; Mohamed Kandil; Brian B. Koo; Sara M. Schaefer

    Parkinson's disease is a common neurodegenerative disorder that presents with nonmotor and motor symptoms. The nonmotor manifestations of Parkinson's disease often begin years before the motor symptoms. Autopsy studies, including both Parkinson's disease patients and matched controls, demonstrated that α‐synuclein aggregates in Parkinson's disease patients can be found in both the substantia nigra

  • Automated MRI Classification in Progressive Supranuclear Palsy: a Large International Cohort Study
    Mov. Disord. (IF 8.061) Pub Date : 2020-02-24
    Salvatore Nigro; Angelo Antonini; David E. Vaillancourt; Klaus Seppi; Roberto Ceravolo; Antonio P. Strafella; Antonio Augimeri; Andrea Quattrone; Maurizio Morelli; Luca Weis; Eleonora Fiorenzato; Roberta Biundo; Roxana G. Burciu; Florian Krismer; Nikolaus R. McFarland; Christoph Mueller; Elke R. Gizewski; Mirco Cosottini; Eleonora Del Prete; Sonia Mazzucchi; Aldo Quattrone

    The Magnetic Resonance Parkinsonism Index is listed as one of the most reliable imaging morphometric markers for diagnosis of progressive supranuclear palsy (PSP). However, the use of this index in diagnostic workup has been limited until now by the low generalizability of published results because of small monocentric patient cohorts, the lack of data validation in independent patient series, and

  • Randomized, Controlled Trial of Exercise on Objective and Subjective Sleep in Parkinson's Disease
    Mov. Disord. (IF 8.061) Pub Date : 2020-02-24
    Amy W. Amara; Kimberly H. Wood; Allen Joop; Raima A. Memon; Jennifer Pilkington; S. Craig Tuggle; John Reams; Matthew J. Barrett; David A. Edwards; Arthur L. Weltman; Christopher P. Hurt; Gary Cutter; Marcas M. Bamman

    Sleep dysfunction is common and disabling in persons with Parkinson's Disease (PD). Exercise improves motor symptoms and subjective sleep quality in PD, but there are no published studies evaluating the impact of exercise on objective sleep outcomes. The goal of this study was to to determine if high‐intensity exercise rehabilitation combining resistance training and body‐weight interval training,

  • Tossing and Turning in Bed: Nocturnal Movements in Parkinson's Disease.
    Mov. Disord. (IF 8.061) Pub Date : 2020-02-20
    Anat Mirelman,Inbar Hillel,Lynn Rochester,Silvia Del Din,Bastiaan R Bloem,Laura Avanzino,Alice Nieuwboer,Inbal Maidan,Talia Herman,Avner Thaler,Tanya Gurevich,Meir Kestenbaum,Avi Orr-Urtreger,Mirek Brys,Jesse M Cedarbaum,Nir Giladi,Jeffrey M Hausdorff

    BACKGROUND Sleep disturbances and nocturnal hypokinesia are common in Parkinson's disease (PD). Recent work using wearable technologies showed fewer nocturnal movements in PD when compared with controls. However, it is unclear how these manifest across the disease spectrum. OBJECTIVES We assessed the prevalence of sleep disturbances and nocturnal hypokinesia in early and advanced PD and their relation

  • Clinical and Dopamine Transporter Imaging Characteristics of Leucine- Rich Repeat Kinase 2 (LRRK2) and Glucosylceramidase Beta (GBA) Parkinson's Disease Participants in the Parkinson's Progression Markers Initiative: A Cross-Sectional Study.
    Mov. Disord. (IF 8.061) Pub Date : 2020-02-19
    Tanya Simuni,Michael C Brumm,Liz Uribe,Chelsea Caspell-Garcia,Christopher S Coffey,Andrew Siderowf,Roy N Alcalay,John Q Trojanowski,Leslie M Shaw,John Seibyl,Andrew Singleton,Arthur W Toga,Doug Galasko,Tatiana Foroud,Kelly Nudelman,Duygu Tosun-Turgut,Kathleen Poston,Daniel Weintraub,Brit Mollenhauer,Caroline M Tanner,Karl Kieburtz,Lana M Chahine,Alyssa Reimer,Samantha Hutten,Susan Bressman,Kenneth

    BACKGROUND There are limited data on the phenotypic and dopamine transporter (DAT) imaging characterization of the Parkinson's disease (PD) patients with leucine rich kinase 2 (LRRK2) and glucosylceramidase beta (GBA) mutations. OBJECTIVE The objective of this study was to examine baseline clinical and DAT imaging characteristics in GBA and LRRK2 mutation carriers with early PD compared with sporadic

  • Auditory Dysfunction in Parkinson's Disease.
    Mov. Disord. (IF 8.061) Pub Date : 2020-02-13
    Zahra Jafari,Bryan E Kolb,Majid H Mohajerani

    PD is a progressive and complex neurological disorder with heterogeneous symptomatology. PD is characterized by classical motor features of parkinsonism and nonmotor symptoms and involves extensive regions of the nervous system, various neurotransmitters, and protein aggregates. Extensive evidence supports auditory dysfunction as an additional nonmotor feature of PD. Studies indicate a broad range

  • Prodromal Dementia with Lewy Bodies: Clinical Characterization and Predictors of Progression.
    Mov. Disord. (IF 8.061) Pub Date : 2020-02-11
    Marleen van de Beek,Inger van Steenoven,Jessica J van der Zande,Frederik Barkhof,Charlotte E Teunissen,Wiesje M van der Flier,Afina W Lemstra

    OBJECTIVE The objective of this study was to examine clinical characteristics, cognitive decline, and predictors for time to dementia in prodromal dementia with Lewy bodies with mild cognitive impairment (MCI-LB) compared with prodromal Alzheimer's disease (MCI-AD). METHODS We included 73 MCI-LB patients (12% female; 68 ± 6 years; Mini Mental State Examination, 27 ± 2) and 124 MCI-AD patients (48%

  • Debugging Adaptive Deep Brain Stimulation for Parkinson's Disease.
    Mov. Disord. (IF 8.061) Pub Date : 2020-02-10
    Simon Little,Peter Brown

    Deep brain stimulation (DBS) is a successful treatment for patients with Parkinson's disease. In adaptive DBS, stimulation is titrated according to feedback about clinical state and underlying pathophysiology. This contrasts with conventional stimulation, which is fixed and continuous. In acute trials, adaptive stimulation matches the efficacy of conventional stimulation while delivering about half

  • Replication-Based Rearrangements Are a Common Mechanism for SNCA Duplication in Parkinson's Disease.
    Mov. Disord. (IF 8.061) Pub Date : 2020-02-10
    Soo Hyun Seo,Albino Bacolla,Dallah Yoo,Yoon Jung Koo,Sung Im Cho,Man Jin Kim,Moon-Woo Seong,Han-Joon Kim,Jong-Min Kim,John A Tainer,Sung Sup Park,Ji Yeon Kim,Beomseok Jeon

    BACKGROUND SNCA multiplication is a genomic cause of familial PD, showing dosage-dependent toxicity. Until now, nonallelic homologous recombination was suggested as the mechanism of SNCA duplication, based on various types of repetitive elements found in the spanning region of the breakpoints. However, the sequence at the breakpoint was analyzed only for 1 case. OBJECTIVES We have analyzed the breakpoint

  • Lysosome and Inflammatory Defects in GBA1-Mutant Astrocytes Are Normalized by LRRK2 Inhibition.
    Mov. Disord. (IF 8.061) Pub Date : 2020-02-08
    Anwesha Sanyal,Mark P DeAndrade,Hailey S Novis,Steven Lin,Jianjun Chang,Nathalie Lengacher,Julianna J Tomlinson,Malú G Tansey,Matthew J LaVoie

    BACKGROUND Autosomal recessive mutations in the glucocerebrosidase gene, Beta-glucocerebrosidase 1 (GBA1), cause the lysosomal storage disorder Gaucher's disease. Heterozygous carriers of most GBA1 mutations have dramatically increased Parkinson's disease (PD) risk, but the mechanisms and cells affected remain unknown. Glucocerebrosidase expression is relatively enriched in astrocytes, yet the impact

  • Neuropathological Findings in Parkinson's Disease With Mild Cognitive Impairment.
    Mov. Disord. (IF 8.061) Pub Date : 2020-02-08
    Molly G Knox,Charles H Adler,Holly A Shill,Erika Driver-Dunckley,Shyamal A Mehta,Christine Belden,Edward Zamrini,Geidy Serrano,Marwan N Sabbagh,John N Caviness,Lucia I Sue,Kathryn J Davis,Brittany N Dugger,Thomas G Beach

    OBJECTIVE There are few neuropathological studies on Parkinson's disease with mild cognitive impairment (PD-MCI). Those published reveal coexisting Lewy body and Alzheimer's disease pathology. Our objective is to determine the pathology that underlies PD-MCI. METHODS We used data from the Arizona Study of Aging and Neurodegenerative Disorders, a longitudinal clinicopathological study. Of 736 autopsied

  • Microglia-Related Gene Triggering Receptor Expressed in Myeloid Cells 2 (TREM2) Is Upregulated in the Substantia Nigra of Progressive Supranuclear Palsy.
    Mov. Disord. (IF 8.061) Pub Date : 2020-02-07
    Javier Sánchez-Ruiz de Gordoa,María Elena Erro,Janire Vicuña-Urriza,María Victoria Zelaya,Paula Tellechea,Blanca Acha,Sara Zueco,Amaya Urdánoz-Casado,Miren Roldán,Idoia Blanco-Luquin,Maite Mendioroz

    BACKGROUND The role of the microglia-related gene triggering receptor expressed in myeloid cells 2 (TREM2) in primary tauopathies, such as progressive supranuclear palsy (PSP), still remains unclear. OBJECTIVES The objective of this study was to profile overall and transcript-specific TREM2 expression levels in the substantia nigra (SN) of PSP patients and controls. METHODS SN samples from neuropathologically

  • Hypertension, Antihypertensive Use and the Delayed-Onset of Huntington's Disease.
    Mov. Disord. (IF 8.061) Pub Date : 2020-02-04
    Jessica J Steventon,Anne E Rosser,Emma Hart,Kevin Murphy

    BACKGROUND Hypertension is a modifiable cardiovascular risk factor implicated in neurodegeneration and dementia risk. In Huntington's disease, a monogenic neurodegenerative disease, autonomic and vascular abnormalities have been reported. This study's objective was to examine the relationship between hypertension and disease severity and progression in Huntington's disease. METHODS Using longitudinal

  • Prominent White Matter Involvement in Multiple System Atrophy of Cerebellar Type.
    Mov. Disord. (IF 8.061) Pub Date : 2020-01-29
    Jennifer Faber,Ilaria Giordano,Xueyan Jiang,Christine Kindler,Annika Spottke,Julio Acosta-Cabronero,Peter J Nestor,Judith Machts,Emrah Düzel,Stefan Vielhaber,Oliver Speck,Ales Dudesek,Christoph Kamm,Lukas Scheef,Thomas Klockgether

    BACKGROUND Sporadic degenerative ataxia patients fall into 2 major groups: multiple system atrophy with predominant cerebellar ataxia (MSA-C) and sporadic adult-onset ataxia (SAOA). Both groups have cerebellar volume loss, but little is known about the differential involvement of gray and white matter in MSA-C when compared with SAOA. OBJECTIVES The objective of this study was to identify structural

  • Slowed luminance reaction times in cervical dystonia: Disordered superior colliculus processing.
    Mov. Disord. (IF 8.061) Pub Date : 2020-01-26
    Laura Williams,John S Butler,Martin Thirkettle,Tom Stafford,Brendan Quinlivan,Eavan McGovern,Sean O'Riordan,Peter Redgrave,Richard Reilly,Michael Hutchinson

    BACKGROUND Abnormal temporal discrimination in cervical dystonia is hypothesized to be attributable to disrupted processing in the superior colliculus. The fast, luminance-based, retinotectal pathway, projects to the superior colliculus; chromatic stimuli responses, by the retino-geniculo-calcarine pathway, are up to 30 ms longer. OBJECTIVES We sought to interrogate visual processing and reaction times

  • Clinical and Cerebral Metabolic Changes in Parkinson's Disease With Basal Forebrain Atrophy.
    Mov. Disord. (IF 8.061) Pub Date : 2020-01-23
    Miyeong Gang,Toru Baba,Yoshiyuki Hosokai,Yoshiyuki Nishio,Akio Kikuchi,Kazumi Hirayama,Takafumi Hasegawa,Masashi Aoki,Atsushi Takeda,Etsuro Mori,Kyoko Suzuki

    BACKGROUND Cholinergic dysfunction plays a key role in cognitive dysfunction in Parkinson's disease (PD). Recent studies revealed that atrophy in the nucleus basalis of Meynert (NBM), the largest cholinergic nucleus in the basal forebrain, heralds cognitive decline in PD. Despite clinical importance of NBM atrophy in PD, clinical and radiological correlates of NBM atrophy remains to be elucidated.

  • PET molecular imaging of phosphodiesterase 10A: An early biomarker of Huntington's disease progression.
    Mov. Disord. (IF 8.061) Pub Date : 2020-01-22
    Patrik Fazio,Cheryl J Fitzer-Attas,Ladislav Mrzljak,Juliana Bronzova,Sangram Nag,John H Warner,Bernhard Landwehrmeyer,Nabil Al-Tawil,Christer Halldin,Anton Forsberg,Jennifer Ware,Valentina Dilda,Andrew Wood,Cristina Sampaio,Andrea Varrone,

    BACKGROUND Changes in phosphodiesterase 10A enzyme levels may be a suitable biomarker of disease progression in Huntington's disease. OBJECTIVES To evaluate phosphodiesterase 10A PET imaging as a biomarker of HD progression using the radioligand, [18 F]MNI-659. METHODS The cross-sectional study (NCT02061722) included 45 Huntington's disease gene-expansion carriers stratified into four disease stages

  • NYX-458 improves cognitive performance in a primate Parkinson's disease model.
    Mov. Disord. (IF 8.061) Pub Date : 2020-01-22
    A L Barth,J S Schneider,T H Johnston,M P Hill,J M Brotchie,J R Moskal,Cassia N Cearley

    BACKGROUND NYX-458 is a N-methyl-d-aspartate receptor (NMDAR) modulator that enhances synaptic plasticity. Dopaminergic cell loss in Parkinson's disease (PD) leads to NMDAR dysregulation in the cortico-striato-pallidal-thalmo-cortical network and altered plasticity in brain regions important to cognitive function. We hypothesize that targeting the NMDAR may be an efficacious approach to treating cognitive

  • Penetrance of Parkinson's Disease in LRRK2 p.G2019S Carriers Is Modified by a Polygenic Risk Score.
    Mov. Disord. (IF 8.061) Pub Date : 2020-01-20
    Hirotaka Iwaki,Cornelis Blauwendraat,Mary B Makarious,Sara Bandrés-Ciga,Hampton L Leonard,J Raphael Gibbs,Dena G Hernandez,Sonja W Scholz,Faraz Faghri,,Mike A Nalls,Andrew B Singleton

    BACKGROUND Although the leucine-rich repeat kinase 2 p.G2019S mutation has been demonstrated to be a strong risk factor for PD, factors that contribute to penetrance among carriers, other than aging, have not been well identified. OBJECTIVES To evaluate whether a cumulative genetic risk identified in the recent genome-wide study is associated with penetrance of PD among p.G2019S mutation carriers.

  • Clinical and Neuropathological Features Associated With Loss of RAB39B.
    Mov. Disord. (IF 8.061) Pub Date : 2020-01-17
    Yujing Gao,Verónica Martínez-Cerdeño,Kirk J Hogan,Catriona A McLean,Paul J Lockhart

    BACKGROUND Pathogenic variants in the small GTPase Ras Analogue in Brain 39b (RAB39B) have been linked to the development of early-onset parkinsonism. The study was aimed at delineating the clinical and neuropathological features associated with a previously reported pathogenic variant in RAB39B (c.503C>A p.T168K) and testing for dysregulation of RAB39B in idiopathic PD. METHODS Clinical details of

  • The Progressive Supranuclear Palsy Clinical Deficits Scale.
    Mov. Disord. (IF 8.061) Pub Date : 2020-01-17
    Ines Piot,Kerstin Schweyer,Gesine Respondek,Maria Stamelou,,,,Philipp Sckopke,Thomas Schenk,Christopher G Goetz,Glenn T Stebbins,Günter U Höglinger

    BACKGROUND There is currently no undisputed, validated, clinically meaningful measure for deficits in the broad spectrum of PSP phenotypes. OBJECTIVE To develop a scale to monitor clinical deficits in patients with PSP across its broad phenotypes. METHODS The Progressive Supranuclear Palsy Clinical Deficits Scale was conceptualized to cover seven clinical domains (Akinesia-rigidity, Bradyphrenia, Communication

  • MYORG mutation heterozygosity is associated with brain calcification.
    Mov. Disord. (IF 8.061) Pub Date : 2020-01-17
    You Chen,Zhidong Cen,Xinhui Chen,Haotian Wang,Si Chen,Dehao Yang,Feng Fu,Lebo Wang,Peng Liu,Hongwei Wu,Xiaosheng Zheng,Fei Xie,Zhiyuan Ouyang,Yun Zhang,Yongji Zhou,Xuerong Huang,Feng Wang,Guangsu Huang,Hongwei An,Yubing Liang,Weijun Hong,Anli Wang,Shuangling Huang,Wenhai Chen,Lili Yin,Yan Yang,Huayun Huang,Ruxin Zeng,Na Zhao,Biao Jiang,Baorong Zhang,Wei Luo,

    BACKGROUND Biallelic mutations in the MYORG gene were first identified as the cause of recessively inherited primary familial brain calcification. Interestingly, some heterozygous carriers also exhibited brain calcifications. OBJECTIVES To further investigate the role of single heterozygous MYORG mutations in the development of brain calcifications. METHODS A nation-wide cohort of Chinese primary familial

  • Brainstem ventilatory dysfunction: A plausible mechanism for dyspnea in Parkinson's Disease?
    Mov. Disord. (IF 8.061) Pub Date : 2020-01-15
    Srimathy Vijayan,Bhajan Singh,Soumya Ghosh,Rick Stell,Frank L Mastaglia

    Dyspnea is an under-recognized and debilitating symptom that is reported in up to 40% of patients with Parkinson's disease and may have multiple origins. Despite its frequency, it is poorly researched, and there is a general lack of understanding of the pathophysiology of dyspnea and respiratory dysfunction in PD. Consequently, a number of PD patients are labelled as having "unexplained dyspnea." Studies

  • Normal temporal discrimination in musician's dystonia is linked to aberrant sensorimotor processing.
    Mov. Disord. (IF 8.061) Pub Date : 2020-01-13
    Fiachra Maguire,Richard B Reilly,Kristina Simonyan

    OBJECTIVES Alterations in sensory discrimination are a prominent nonmotor feature of dystonia. Abnormal temporal discrimination in focal dystonia is considered to represent its mediational endophenotype, albeit unclear pathophysiological correlates. We examined the associations between the visual temporal discrimination threshold (TDT) and brain activity in patients with musician's dystonia, nonmusician's

  • Subthalamic nucleus stimulation impairs motivation: Implication for apathy in Parkinson's disease.
    Mov. Disord. (IF 8.061) Pub Date : 2020-01-13
    Yvan Vachez,Carole Carcenac,Robin Magnard,Lydia Kerkerian-Le Goff,Pascal Salin,Marc Savasta,Sebastien Carnicella,Sabrina Boulet

    BACKGROUND Apathy is one of the most disabling neuropsychiatric symptoms in Parkinson's disease (PD) patients and has a higher prevalence in patients under subthalamic nucleus deep brain stimulation. Indeed, despite its effectiveness for alleviating PD motor symptoms, its neuropsychiatric repercussions have not yet been fully uncovered. Because it can be alleviated by dopaminergic therapies, especially

  • Role of glial cell line-derived neurotrophic factor in the maintenance of adult mesencephalic catecholaminergic neurons.
    Mov. Disord. (IF 8.061) Pub Date : 2020-01-13
    Daniel Enterría-Morales,Ivette López-López,José López-Barneo,Xavier d'Anglemont de Tassigny

    BACKGROUND The glial cell line-derived neurotrophic factor has a potent neuroprotective action on mesencephalic dopamine neurons, which are progressively lost in Parkinson's disease. Intrastriatal administration of this factor is a promising therapy for Parkinson's disease. Glial cell line-derived neurotrophic factor is naturally produced in restricted cerebral regions, such as the striatum, septum

  • CLU rs11136000 promotes early cognitive decline in Parkinson's disease.
    Mov. Disord. (IF 8.061) Pub Date : 2020-01-13
    Frederic Sampedro,Juan Marín-Lahoz,Saul Martínez-Horta,Rocío Pérez-González,Javier Pagonabarraga,Jaime Kulisevsky

    BACKGROUND The C allele of the rs11136000 genetic variant of the clusterin gene has been associated with increased risk of Alzheimer's disease. However, a comprehensive characterization of the role of this genetic variant in early cognitive deterioration in PD is lacking. METHODS Using the Parkinson's Progression Markers Initiative database, we compared baseline and 5-year cognitive performance between

  • Aberrant somatosensory-motor adaptation in musicians' dystonia.
    Mov. Disord. (IF 8.061) Pub Date : 2020-01-10
    Shinichi Furuya,André Lee,Takanori Oku,Eckart Altenmüller

    BACKGROUND Some forms of movement disorders are characterized by task-specific manifestations of symptoms. However, its underlying mechanisms are poorly understood. Here we addressed this issue through a novel motor adaptation experimental paradigm. METHODS Pianists with and without focal task-specific dystonia learned to play the piano with a key whose weight can be modified by a novel robot system

  • Early-motor phenotype relates to neuropsychiatric and cognitive disorders in huntington's disease.
    Mov. Disord. (IF 8.061) Pub Date : 2020-01-10
    Parunyou Julayanont,Kenneth M Heilman,Nikolaus R McFarland

    OBJECTIVE To determine the relationships between the motor phenotype and the presence of specific neuropsychiatric and neuropsychological disorders in patients with early motor-manifest Huntington's disease (HD). METHODS From the Enroll-HD study, 3,505 individuals with HD who had ≤5 years of motor symptoms were classified based on the predefined parkinsonism/chorea index into chorea-dominant (n = 1125)

  • Loss-of-function mutations in NR4A2 cause dopa-responsive dystonia Parkinsonism.
    Mov. Disord. (IF 8.061) Pub Date : 2020-01-10
    Thomas Wirth,Louise Laure Mariani,Gaber Bergant,Michel Baulac,Marie-Odile Habert,Nathalie Drouot,Emmanuelle Ollivier,Alenka Hodžić,Gorazd Rudolf,Patrick Nitschke,Gabrielle Rudolf,Jamel Chelly,Christine Tranchant,Mathieu Anheim,Emmanuel Roze

    BACKGROUND The group of dystonia genes is expanding, and mutations of these genes have been associated with various combined dystonia syndromes. Among the latter, the cause of some dystonia parkinsonism cases remains unknown. OBJECTIVE To report patients with early-onset dystonia parkinsonism as a result of loss-of-function mutations in nuclear receptor subfamily 4 group A member 2. METHODS Phenotypic

  • Anatomo-functional mapping of the primate mesencephalic locomotor region using stereotactic lesions.
    Mov. Disord. (IF 8.061) Pub Date : 2020-01-10
    Marion Gay,Hayat Belaid,Alister Rogers,Fernando Pérez-García,Maxime Roustan,Eric Bardinet,Chantal François,Carine Karachi

    BACKGROUND Dysfunction of the mesencephalic locomotor region has been implicated in gait disorders. However, the role of its 2 components, the pedunculopontine and the cuneiform nuclei, in locomotion is poorly understood in primates. OBJECTIVES To analyze the effect of cuneiform lesions on gait and balance in 2 monkeys and to compare them with those obtained after cholinergic pedunculopontine lesions

  • Pallidal Deep Brain Stimulation Reduces Sensorimotor Cortex Activation in Focal/Segmental Dystonia.
    Mov. Disord. (IF 8.061) Pub Date : 2020-01-10
    Andrea Greuel,K Amande M Pauls,Anne Koy,Martin Südmeyer,Alfons Schnitzler,Lars Timmermann,Gereon R Fink,Carsten Eggers

    BACKGROUND Although deep brain stimulation of the globus pallidus internus (GPi-DBS) is an established treatment for many forms of dystonia, including generalized as well as focal forms, its effects on brain (dys-)function remain to be elucidated, particularly for focal and segmental dystonia. Clinical response to GPi-DBS typically comes with some delay and lasts up to several days, sometimes even

  • Decreased Penetrance of Parkinson's Disease in Elderly Carriers of Glucocerebrosidase Gene L444P/R Mutations: A Community-Based 10-Year Longitudinal Study.
    Mov. Disord. (IF 8.061) Pub Date : 2020-01-08
    Shaozhen Ji,Chaodong Wang,Hongwen Qiao,Zhuqin Gu,Ziv Gan-Or,Edward A Fon,Piu Chan

    BACKGROUND Heterozygous mutations in the glucocerebrosidase gene (GBA) have been shown to be an important genetic risk factor for Parkinson's disease (PD) worldwide. However, the penetrance of GBA heterozygote for L444P, the common mutation for Asian population, is not known in older Chinese people. OBJECTIVES To assess the conversion rate to PD in identified carriers of GBA L444P/R mutations in Chinese

  • Brain mitochondrial impairment in early-onset Parkinson's disease with or without PINK1 mutation.
    Mov. Disord. (IF 8.061) Pub Date : 2020-01-02
    Mario Rango,Gabriele Dossi,Letizia Squarcina,Cristiana Bonifati

    BACKGROUND PINK1 mutations are likely to affect mitochondrial function. The objective of this study was to study brain mitochondrial function in patients with early-onset Parkinson's disease, with or without PINK1 mutations. METHODS We investigated brain intracellular pH, mitochondrial activity, and energetics with functional magnetic resonance spectroscopy in patients with early-onset Parkinson's

  • Meta-analysis of copper and iron in Parkinson's disease brain and biofluids.
    Mov. Disord. (IF 8.061) Pub Date : 2019-12-31
    Sian Genoud,Alistair M Senior,Dominic J Hare,Kay L Double

    BACKGROUND Variations in study quality and design complicate interpretation of the clinical significance of consistently reported changes in copper and iron levels in human Parkinson's disease brain and biofluids. METHODS We systematically searched literature databases for quantitative reports of biometal levels in the degenerating substantia nigra (SN), CSF, serum, and plasma in Parkinson's disease

  • Metabolic network abnormalities in drug-naïve Parkinson's Disease.
    Mov. Disord. (IF 8.061) Pub Date : 2019-12-24
    Katharina A Schindlbeck,Olaia Lucas-Jiménez,Chris C Tang,Silvia Morbelli,Dario Arnaldi,Matteo Pardini,Marco Pagani,Naroa Ibarretxe-Bilbao,Natalia Ojeda,Flavio Nobili,David Eidelberg

    BACKGROUND An ideal imaging biomarker for a neurodegenerative disorder should be able to measure abnormalities in the earliest stages of the disease. OBJECTIVE We investigated metabolic network changes in two independent cohorts of drug-naïve Parkinson's disease (PD) patients who have not been exposed to dopaminergic medication. METHODS We scanned 85 de novo, drug-naïve PD patients and 85 age-matched

  • Cardiac noradrenaline turnover and heat shock protein 27 phosphorylation in dyskinetic monkeys.
    Mov. Disord. (IF 8.061) Pub Date : 2019-12-24
    Pilar Almela,Lorena Cuenca-Bermejo,José E Yuste,Cristina Estrada,Vicente de Pablos,Víctor Bautista-Hernández,Emiliano Fernández-Villalba,María-Luisa Laorden,María-Trinidad Herrero

    BACKGROUND Autonomic dysfunction is a well-known dominant symptom in the advanced stages of Parkinson's disease. However, the role of cardiac sympathetic nerves still needs to be elucidated. OBJECTIVES To evaluate cardiac sympathetic response in Parkinsonian and dyskinetic monkeys. METHODS Adult male monkeys were divided into 1 of the following 3 groups: controls, 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine-treated

  • Dyskinesia matters.
    Mov. Disord. (IF 8.061) Pub Date : 2019-12-24
    M Angela Cenci,Sara Riggare,Rajesh Pahwa,David Eidelberg,Robert A Hauser

    Levodopa-induced dyskinesia (LID) represents a significant source of discomfort for people with Parkinson's disease (PD). It negatively affects quality of life, it is associated with both motor and nonmotor fluctuations, and it brings an increased risk of disability, balance problems, and falls. Although the prevalence of severe LID appears to be lower than in previous eras (likely owing to a more

  • Little Change in Functional Brain Networks Following Acute Levodopa in Drug-Naïve Parkinson's Disease.
    Mov. Disord. (IF 8.061) Pub Date : 2019-12-19
    Robert L White,Meghan C Campbell,Dake Yang,William Shannon,Abraham Z Snyder,Joel S Perlmutter

    OBJECTIVE The objective of this study was to investigate the effects of levodopa on functional brain networks in Parkinson's disease. METHODS We acquired resting state functional magnetic resonance imaging in 30 drug-naïve participants with Parkinson's disease and 20 age-matched healthy controls. Each participant was studied following administration of a single oral dose of either levodopa or placebo

  • Quantitative evaluation of iron content in idiopathic rapid eye movement sleep behavior disorder.
    Mov. Disord. (IF 8.061) Pub Date : 2019-12-17
    Junyan Sun,Zhaoyu Lai,Jinghong Ma,Linlin Gao,Meijie Chen,Jie Chen,Jiliang Fang,Yangyang Fan,Yan Bao,Dongling Zhang,Piu Chan,Qi Yang,Chenfei Ye,Tao Wu,Ting Ma

    BACKGROUND Idiopathic rapid eye movement sleep behavior disorder is an early sign of neurodegenerative disease. This study aimed to quantitatively evaluate iron content in idiopathic rapid eye movement sleep behavior disorder patients using quantitative susceptibility mapping and to examine the potential of this technique to identify the prodromal stage of α-synucleinopathies. METHODS Twenty-five idiopathic

  • Metabolic correlates of dopaminergic loss in dementia with lewy bodies.
    Mov. Disord. (IF 8.061) Pub Date : 2019-12-16
    Maria Huber,Leonie Beyer,Catharina Prix,Sonja Schönecker,Carla Palleis,Boris-Stephan Rauchmann,Silvia Morbelli,Andrea Chincarini,Rose Bruffaerts,Rik Vandenberghe,Koen Van Laere,Milica G Kramberger,Maja Trost,Marko Grmek,Valentina Garibotto,Nicolas Nicastro,Giovanni B Frisoni,Afina W Lemstra,Jessica van der Zande,Andrea Pilotto,Alessandro Padovani,Sara Garcia-Ptacek,Irina Savitcheva,Miguel A Ochoa-Figueroa

    BACKGROUND Striatal dopamine deficiency and metabolic changes are well-known phenomena in dementia with Lewy bodies and can be quantified in vivo by 123 I-Ioflupane brain single-photon emission computed tomography of dopamine transporter and 18 F-fluorodesoxyglucose PET. However, the linkage between both biomarkers is ill-understood. OBJECTIVE We used the hitherto largest study cohort of combined imaging

  • Glial cell line-derived neurotrophic factor receptor Rearranged during transfection agonist supports dopamine neurons in Vitro and enhances dopamine release In Vivo.
    Mov. Disord. (IF 8.061) Pub Date : 2019-12-16
    Arun Kumar Mahato,Jaakko Kopra,Juho-Matti Renko,Tanel Visnapuu,Ilari Korhonen,Nita Pulkkinen,Maxim M Bespalov,Andrii Domanskyi,Eric Ronken,T Petteri Piepponen,Merja H Voutilainen,Raimo K Tuominen,Mati Karelson,Yulia A Sidorova,Mart Saarma

    BACKGROUND Motor symptoms of Parkinson's disease (PD) are caused by degeneration and progressive loss of nigrostriatal dopamine neurons. Currently, no cure for this disease is available. Existing drugs alleviate PD symptoms but fail to halt neurodegeneration. Glial cell line-derived neurotrophic factor (GDNF) is able to protect and repair dopamine neurons in vitro and in animal models of PD, but the

  • Cerebrospinal fluid levels of neurogranin in Parkinsonian disorders.
    Mov. Disord. (IF 8.061) Pub Date : 2019-12-13
    Sara Hall,Shorena Janelidze,Henrik Zetterberg,Britta Brix,Niklas Mattsson,Yulia Surova,Kaj Blennow,Oskar Hansson

    BACKGROUND CSF concentration of neurogranin has been suggested as a biomarker for synapse dysfunction. OBJECTIVES To investigate CSF neurogranin in parkinsonian disorders compared to controls and Alzheimer's disease and the possible correlations between neurogranin and cognitive and motor impairment. METHODS We included 157 patients with PD, 29 with PD with dementia, 11 with dementia with Lewy bodies

Contents have been reproduced by permission of the publishers.
全球疫情及响应:BMC Medicine专题征稿