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Movement Disorders: Official Journal of the Movement Disorder Society

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https://www.readbyqxmd.com/read/27911022/membrane-defects-and-genetic-redundancy-are-we-at-a-turning-point-for-dyt1-dystonia
#1
REVIEW
Ana Cascalho, Julie Jacquemyn, Rose E Goodchild
Heterozygosity for a 3-base pair deletion (ΔGAG) in TOR1A/torsinA is one of the most common causes of hereditary dystonia. In this review, we highlight current understanding of how this mutation causes disease from research spanning structural biochemistry, cell science, neurobiology, and several model organisms. We now know that homozygosity for ΔGAG has the same effects as Tor1a(KO) , implicating a partial loss of function mechanism in the ΔGAG/+ disease state. In addition, torsinA loss specifically affects neurons in mice, even though the gene is broadly expressed, apparently because of differential expression of homologous torsinB...
December 2, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/27911020/changes-in-resting-state-connectivity-in-musicians-with-embouchure-dystonia
#2
Bernhard Haslinger, Jonas Noé, Eckart Altenmüller, Valentin Riedl, Claus Zimmer, Tobias Mantel, Christian Dresel
OBJECTIVE: Embouchure dystonia is a highly disabling task-specific dystonia in professional brass musicians leading to spasms of perioral muscles while playing the instrument. As they are asymptomatic at rest, resting-state functional magnetic resonance imaging in these patients can reveal changes in functional connectivity within and between brain networks independent from dystonic symptoms. METHODS: We therefore compared embouchure dystonia patients to healthy musicians with resting-state functional magnetic resonance imaging in combination with independent component analyses...
December 2, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/27911008/comparison-of-neuropathology-in-parkinson-s-disease-subjects-with-and-without-deep-brain-stimulation
#3
Gian D Pal, Bichun Ouyang, Geidy Serrano, Holly A Shill, Christopher Goetz, Glenn Stebbins, Leo Verhagen Metman, Erika Driver-Dunckley, Shyamal H Mehta, John N Caviness, Marwan N Sabbagh, Charles H Adler, Thomas G Beach
BACKGROUND: The aim of this postmortem study was to compare, in Parkinson's disease subjects with and without bilateral subthalamic nucleus deep brain stimulation (STN-DBS), the loss of pigmented neurons within the substantia nigra and pathological alpha-synuclein density within the SN and other brain regions. METHODS: PD subjects were identified from the Arizona Study of Aging and Neurodegenerative Disorders database (STN-DBS = 11, non-DBS = 156). Pigmented neuron loss scores within the substantia nigra as well as alpha-synuclein density scores within the substantia nigra and 9 other brain regions were compared, the latter individually and in summary as the Lewy body brain load score...
December 2, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/27911006/lrrk2-levels-and-phosphorylation-in-parkinson-s-disease-brain-and-cases-with-restricted-lewy-bodies
#4
Nicolas Dzamko, Amanda M Gysbers, Rina Bandopadhyay, Marc F Bolliger, Akiko Uchino, Ye Zhao, Masaki Takao, Sandrine Wauters, Wilma D J van de Berg, Junko Takahashi-Fujigasaki, R Jeremy Nichols, Janice L Holton, Shigeo Murayama, Glenda M Halliday
BACKGROUND: Leucine rich repeat kinase 2 (LRRK2) is a promising target for the treatment of Parkinson's disease; however, little is known about the expression of LRRK2 in human brain and if/how LRRK2 protein levels are altered in Parkinson's disease. OBJECTIVES: We measured the protein levels of LRRK2 as well as its phosphorylation on serines 910, 935, and 973 in the postmortem brain tissue of Parkinson's disease patients and aged controls with and without Lewy bodies...
December 2, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/27911002/what-is-quality-of-life-and-how-do-we-measure-it-relevance-to-parkinson-s-disease-and-movement-disorders
#5
REVIEW
Pablo Martinez-Martin
Health-related quality of life is a patient-reported outcome that complements clinical evaluation and provides information about disease activity and effects of the treatment. The objective of this review is to present the conceptual framework, the measures, and some of their most relevant applications in the field of Parkinson's disease and movement disorders. Health-related quality of life is a subjective, individual, and multidimensional construct, and its main dimensions are physical, mental, and social, besides global perceptions of health and personal domains...
December 2, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/27905127/reply-letter-to-adcy5-related-dyskinesia-comments-on-characteristic-manifestations-and-variant-associated-severity
#6
Victor S C Fung, Florence C F Chang, Ana Westenberger, Christine Klein
No abstract text is available yet for this article.
December 1, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/27896833/exploiting-the-aggregation-properties-of-alpha-synuclein-for-diagnostic-purposes
#7
David P Breen, Lorraine V Kalia
No abstract text is available yet for this article.
November 29, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/27892614/validation-of-a-prognostic-index-for-huntington-s-disease
#8
Jeffrey D Long, Douglas R Langbehn, Sarah J Tabrizi, Bernhard G Landwehrmeyer, Jane S Paulsen, John Warner, Cristina Sampaio
BACKGROUND: Characterizing progression in Huntington's disease is important for study the natural course and selecting appropriate participants for clinical trials. OBJECTIVES: The aim was to develop a prognostic index for motor diagnosis in Huntington's disease and examine its predictive performance in external observational studies. METHODS: The prediagnosis Neuro-biological Predictors of Huntington's Disease study (N = 945 gene-positive) was used to select a Cox regression model for computing a prognostic index...
November 28, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/27892607/hypothalamic-%C3%AE-synuclein-and-its-relation-to-weight-loss-and-autonomic-symptoms-in-parkinson-s-disease
#9
Eduardo De Pablo-Fernandez, Robert Courtney, Janice L Holton, Thomas T Warner
No abstract text is available yet for this article.
November 28, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/27886407/first-in-human-assessment-of-prx002-an-anti-%C3%AE-synuclein-monoclonal-antibody-in-healthy-volunteers
#10
Dale B Schenk, Martin Koller, Daniel K Ness, Sue G Griffith, Michael Grundman, Wagner Zago, Jay Soto, George Atiee, Susanne Ostrowitzki, Gene G Kinney
BACKGROUND: α-Synuclein is a major component of pathologic inclusions that characterize Parkinson's disease. PRX002 is an antibody that targets α-synuclein, and its murine parent antibody 9E4 has been shown in preclinical studies to reduce α-synuclein pathology and to protect against cognitive and motor deteriorations and progressive neurodegeneration in human α-synuclein transgenic mice. METHODS: This first-in-human, randomized, double-blind, placebo-controlled, phase 1 study assessed the impact of PRX002 administered to 40 healthy participants in 5 ascending-dose cohorts (n = 8/cohort) in which participants were randomly assigned to receive a single intravenous infusion of study drug (0...
November 25, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/27873365/mechanisms-for-cell-to-cell-propagation-no-longer-lag-behind
#11
Jeffrey H Kordower, Patrik Brundin
No abstract text is available yet for this article.
November 22, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/27873359/constipation-in-parkinson-s-disease-subjective-symptoms-objective-markers-and-new-perspectives
#12
REVIEW
Karoline Knudsen, Klaus Krogh, Karen Østergaard, Per Borghammer
Constipation is among the first nonmotor symptoms to develop in the prodromal phase of PD. Pathological alpha-synuclein deposition is present throughout the gastrointestinal tract up to 20 years preceding diagnosis. Nevertheless, constipation in the context of PD remains ill defined and poorly understood. In this review, we summarize current knowledge of subjective symptoms and objective measures of constipation in PD. More than 10 different definitions of constipation have been used in the PD literature, making generalizations difficult...
November 22, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/27873351/rasch-analysis-of-the-carers-quality-of-life-questionnaire-for-parkinsonism
#13
Marios Pillas, Caroline Selai, Anette Schrag
OBJECTIVE: To assess the psychometric properties of the Carers Quality of Life Questionnaire for Parkinsonism using a Rasch modeling approach and determine the optimal cut-off score. METHODS: We performed a Rasch analysis of the survey answers of 430 carers of patients with atypical parkinsonism. RESULTS: All of the scale items demonstrated acceptable goodness of fit to the Rasch model. The scale was unidimensional and no notable differential item functioning was detected in the items regarding age and disease type...
November 22, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/27869329/novel-compound-heterozygous-synaptojanin-1-mutation-causes-l-dopa-responsive-dystonia-parkinsonism-syndrome
#14
Marc-Alexander Rauschendorf, Meike Jost, Friedrich Stock, Andreas Zimmer, Bernd Rösler, Michel Rijntjes, Tobias Piroth, Volker Arnd Coenen, Peter Christoph Reinacher, Philipp T Meyer, Lars Frings, Cornelius Weiller, Judith Fischer, Stephan Klebe
No abstract text is available yet for this article.
November 21, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/27869325/a-novel-therapeutic-approach-for-synucleinopathies
#15
Roberto Erro
No abstract text is available yet for this article.
November 21, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/27869324/overlaps-between-multiple-system-atrophy-and-multiple-sclerosis-a-novel-perspective
#16
REVIEW
Kurt A Jellinger, Gregor K Wenning
No abstract text is available yet for this article.
November 21, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/27869322/tmem230-stop-codon-mutation-is-rare-in-parkinson-s-disease-and-essential-tremor-in-eastern-china
#17
Ya-Chao He, Pei Huang, Qiong-Qiong Li, Qian Sun, Dun-Hui Li, Tian Wang, Jun-Yi Shen, Sheng-Di Chen
No abstract text is available yet for this article.
November 21, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/27859651/sustained-striatal-dopamine-levels-following-intestinal-levodopa-infusions-in-parkinson-s-disease-patients
#18
Marios Politis, Anna Sauerbier, Clare Loane, Nicola Pavese, Anne Martin, Benjamin Corcoran, David J Brooks, K Ray-Chaudhuri, Paola Piccini
BACKGROUND: The objective of this study was to investigate in vivo the ability of levodopa/carbidopa intestinal gel infusions to produce sustained striatal dopamine levels and to improve clinical outcomes in Parkinson's disease patients. METHODS: Six advanced Parkinson's disease patients had serial [(11) C]raclopride PET to assess levodopa/carbidopa intestinal gel infusion-induced rises in striatal dopamine as reflected by a fall in dopamine-D2/3 receptor availability...
November 17, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/27862320/primary-familial-brain-calcification-in-the-ibgc2-kindred-all-linkage-roads-lead-to-slc20a2
#19
EDITORIAL
Amit Batla, Maria Stamelou
No abstract text is available yet for this article.
November 15, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/27859661/rapidly-progressive-primary-progressive-aphasia-and-parkinsonism-with-novel-grn-mutation
#20
LETTER
Daniela Galimberti, Sara M G Cioffi, Chiara Fenoglio, Maria Serpente, Adrian L Oblak, Federico Rodriguez-Porcel, Emanuela Oldoni, Matthew C Hagen, Marina Arcaro, Elio Scarpini, Bernardino Ghetti, Alberto J Espay
No abstract text is available yet for this article.
November 15, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
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