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Movement Disorders: Official Journal of the Movement Disorder Society

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https://www.readbyqxmd.com/read/28090690/the-many-faces-of-autonomic-failure-in-multiple-system-atrophy
#1
EDITORIAL
Wassilios G Meissner, Anne Pavy-Le Traon
No abstract text is available yet for this article.
January 16, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28090684/predict-pd-an-online-approach-to-prospectively-identify-risk-indicators-of-parkinson-s-disease
#2
Alastair J Noyce, Lea R'Bibo, Luisa Peress, Jonathan P Bestwick, Kerala L Adams-Carr, Niccolo E Mencacci, Christopher H Hawkes, Joseph M Masters, Nicholas Wood, John Hardy, Gavin Giovannoni, Andrew J Lees, Anette Schrag
BACKGROUND: A number of early features can precede the diagnosis of Parkinson's disease (PD). OBJECTIVE: To test an online, evidence-based algorithm to identify risk indicators of PD in the UK population. METHODS: Participants aged 60 to 80 years without PD completed an online survey and keyboard-tapping task annually over 3 years, and underwent smell tests and genotyping for glucocerebrosidase (GBA) and leucine-rich repeat kinase 2 (LRRK2) mutations...
January 16, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28090678/the-epileptic-and-nonepileptic-spectrum-of-paroxysmal-dyskinesias-channelopathies-synaptopathies-and-transportopathies
#3
REVIEW
Roberto Erro, Kailash P Bhatia, Alberto J Espay, Pasquale Striano
Historically, the syndrome of primary paroxysmal dyskinesias was considered a group of disorders as a result of ion channel dysfunction. This proposition was primarily based on the discovery of mutations in ion channels, which caused other episodic neurological disorders such as epilepsy and migraine and also supported by the frequent association between paroxysmal dyskinesias and epilepsy. However, the discovery of the genes responsible for the 3 classic forms of paroxysmal dyskinesias disproved this ion channel theory...
January 16, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28090676/mutations-in-tmem230-are-not-a-common-cause-of-parkinson-s-disease
#4
Marialuisa Quadri, Guido J Breedveld, Hsiu-Chen Chang, Tu-Hsueh Yeh, Leonor Correia Guedes, Vincenzo Toni, Edito Fabrizio, Michele De Mari, Astrid Thomas, Cristina Tassorelli, Janneke P M A Rood, Valeria Saddi, Hsin Fen Chien, Anneke J A Kievit, Agnita J W Boon, Fabrizio Stocchi, Leonardo Lopiano, Giovanni Abbruzzese, Pietro Cortelli, Giuseppe Meco, Giovanni Cossu, Egberto Reis Barbosa, Joaquim J Ferreira, Chin-Song Lu, Vincenzo Bonifati
No abstract text is available yet for this article.
January 16, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28071832/the-role-of-amyloidogenic-proteins-as-a-meeting-point-of-type-2-diabetes-and-parkinson-s-disease-pathways
#5
Samaneh Mohasel, Soheila Sobhani
No abstract text is available yet for this article.
January 10, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28071825/systematic-review-of-severity-scales-and-screening-instruments-for-tics-critique-and-recommendations
#6
Davide Martino, Tamara M Pringsheim, Andrea E Cavanna, Carlo Colosimo, Andreas Hartmann, James F Leckman, Sheng Luo, Alexander Munchau, Christopher G Goetz, Glenn T Stebbins, Pablo Martinez-Martin
BACKGROUND: Several clinician, informant, and self-report instruments for tics and associated phenomena have been developed that differ in construct, comprehensiveness, and ease of administration. OBJECTIVE: A Movement Disorders Society subcommittee aimed to rate psychometric quality of severity and screening instruments for tics and related sensory phenomena. METHODS: Following the methodology adopted by previous Movement Disorders Society subcommittee papers, a review of severity and screening instruments for tics was completed, applying a classification as "recommended," "suggested," or "listed" to each instrument...
January 10, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28071824/heart-rate-variability-in-leucine-rich-repeat-kinase-2-associated-parkinson-s-disease
#7
Naomi P Visanji, Grace S Bhudhikanok, Tiago A Mestre, Taneera Ghate, Kaviraj Udupa, Amaal AlDakheel, Barbara S Connolly, Carmen Gasca-Salas, Drew S Kern, Jennifer Jain, Elizabeth J Slow, Achinoam Faust-Socher, Sam Kim, Ruksana Azhu Valappil, Farah Kausar, Ekaterina Rogaeva, J William Langston, Caroline M Tanner, Birgitt Schüle, Anthony E Lang, Samuel M Goldman, Connie Marras
BACKGROUND: Heart rate variability is reduced in idiopathic PD, indicating cardiac autonomic dysfunction likely resulting from peripheral autonomic synucleinopathy. Little is known about heart rate variability in leucine-rich repeat kinase 2-associated PD. OBJECTIVES: This study investigated heart rate variability in LRRK2-associated PD. METHODS: Resting electrocardiograms were obtained from 20 individuals with LRRK2-associated PD, 37 nonmanifesting carriers, 48 related noncarriers, 26 idiopathic PD patients, and 32 controls...
January 10, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28071821/mouse-models-of-kufor-rakeb-disease-link-parkinson-s-disease-closer-to-neuronal-ceroid-lipofuscinosis-suggesting-lysosomal-dysfunction-as-shared-mechanism
#8
Susanne A Schneider, Jose Bras
No abstract text is available yet for this article.
January 10, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28059473/striosomal-dysfunction-affects-behavioral-adaptation-but-not-impulsivity-evidence-from-x-linked-dystonia-parkinsonism
#9
Christian Beste, Moritz Mückschel, Raymond Rosales, Aloysius Domingo, Lillian Lee, Arlene Ng, Christine Klein, Alexander Münchau
BACKGROUND: Executive functions including behavioral adaptation and impulse control are commonly impaired in movement disorders caused by striatal pathology. However, as yet it is unclear what aspects of behavioral abnormalities are related to pathology in which striatal subcomponent, that is, the matrix and the striosomes. We therefore studied cognitive control in X-linked dystonia-parkinsonism, a model disease of striosomal degeneration, using behavioral paradigms and EEG. METHODS: We studied genetically confirmed X-linked dystonia-parkinsonism patients (N = 21) in their early disease stages and healthy matched controls...
January 6, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28059471/specific-patterns-of-neuronal-loss-in-the-pulvinar-nucleus-in-dementia-with-lewy-bodies
#10
Daniel Erskine, Alan J Thomas, Johannes Attems, John-Paul Taylor, Ian G McKeith, Christopher M Morris, Ahmad A Khundakar
BACKGROUND: Complex visual hallucinations occur in 70%-80% of dementia with Lewy bodies patients and significantly affect well-being. Despite the prevalence of visual hallucinations in dementia with Lewy bodies, the neuropathological basis of this phenomenon is poorly understood. The pulvinar nucleus of the thalamus has not previously been neuropathologically examined, but has been linked to visual hallucinations in dementia with Lewy bodies. The objective of this study was to investigate whether neuropathological or morphometric changes occur in the pulvinar nucleus in dementia with Lewy bodies cases that may contribute to visual hallucinations...
January 6, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28009087/distribution-and-characteristics-of-transactive-response-dna-binding-protein-43-kda-pathology-in-progressive-supranuclear-palsy
#11
Shunsuke Koga, Monica Sanchez-Contreras, Keith A Josephs, Ryan J Uitti, Neill Graff-Radford, Jay A van Gerpen, William P Cheshire, Zbigniew K Wszolek, Rosa Rademakers, Dennis W Dickson
BACKGROUND: This study aimed to determine the frequency of transactive response DNA binding protein 43 kDa pathology in PSP, the clinical features of patients with this pathology, and genetic risk factors for it. METHODS: Hippocampal sections were screened with immunohistochemistry for transactive response DNA binding protein 43 kDa in 945 PSP cases. A subset of 261 cases that were negative in hippocampus was screened in the amygdala. The density and disruption of this pathology, as well as regional tau burden, and clinical and genetic characteristics were analyzed...
December 23, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28004859/parkinson-s-disease-related-increase-of-t2-weighted-hypointensity-in-substantia-nigra-pars-compacta
#12
Jason Langley, Daniel E Huddleston, Jan Sedlacik, Kai Boelmans, Xiaoping P Hu
BACKGROUND: In PD, at the time of diagnosis, approximately 50% of melanized dopaminergic neurons in SNpc have died, yet ongoing neuronal death and neuromelanin release with associated neuroinflammation and microglial activation continue, as does local iron accumulation. Previous studies investigating nigral iron accumulation used T2 / T2*-weighted contrasts to define the regions of interest in the SN. Given that T2 / T2*-weighted contrasts lack sensitivity to neuromelanin and thereby SNpc, neuromelanin-sensitive MRI provides better delineation of SNpc and allows the examination of increased iron deposition in SNpc more specifically and accurately...
December 22, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28004858/new-evidence-comes-to-light-how-is-%C3%AE-synuclein-aggregation-related-to-mitochondrial-protein-import-in-parkinson-s-disease
#13
Farzaneh Rahmani, Aida Kamalian, Mohammad Hadi Aarabi
No abstract text is available yet for this article.
December 22, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/27987235/adora1-mutations-are-not-a-common-cause-of-parkinson-s-disease-and-dementia-with-lewy-bodies
#14
LETTER
Cornelis Blauwendraat, Mike A Nalls, Monica Federoff, Olga Pletnikova, Jinhui Ding, Christopher Letson, Joshua T Geiger, J Raphael Gibbs, Dena G Hernandez, Juan C Troncoso, Javier Simón-Sánchez, Sonja W Scholz
No abstract text is available yet for this article.
December 17, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/27987231/levodopa-entacapone-carbidopa-intestinal-gel-in-parkinson-s-disease-a-randomized-crossover-study
#15
Marina Senek, Elisabet I Nielsen, Dag Nyholm
BACKGROUND: The addition of oral entacapone to levodopa-carbidopa intestinal gel treatment leads to less conversion of levodopa to 3-O-methyldopa, thereby increasing levodopa plasma concentration. The objective of this study was to compare systemic levodopa exposure of the newly developed levodopa-entacapone-carbidopa intestinal gel after a 20% dose reduction with levodopa exposure after the usual levodopa-carbidopa intestinal gel dose in a randomized crossover trial in advanced Parkinson's disease patients...
December 17, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/27933653/adcy5-related-dyskinesia-comments-on-characteristic-manifestations-and-variant-associated-severity
#16
LETTER
Wendy H Raskind, Jennifer R Friedman, Emmanuel Roze, Aurélie Méneret, Dong-Hui Chen, Thomas D Bird
No abstract text is available yet for this article.
December 9, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/27911022/membrane-defects-and-genetic-redundancy-are-we-at-a-turning-point-for-dyt1-dystonia
#17
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
#18
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
#19
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
#20
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
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