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movement and neurodegeneration

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https://www.readbyqxmd.com/read/28790966/randomized-controlled-study-of-a-remote-flipped-classroom-neuro-otology-curriculum
#1
Frederick Robert Carrick, Mahera Abdulrahman, Ahmed Hankir, Maksim Zayaruzny, Kinda Najem, Palita Lungchukiet, Roger A Edwards
CONTEXT: Medical Education can be delivered in the traditional classroom or via novel technology including an online classroom. OBJECTIVE: To test the hypothesis that learning in an online classroom would result in similar outcomes as learning in the traditional classroom when using a flipped classroom pedagogy. DESIGN: Randomized controlled trial. A total of 274 subjects enrolled in a Neuro-otology training program for non-Neuro-otologists of 25 h held over a 3-day period...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28769866/eye-control-deficits-coupled-to-hand-control-deficits-eye-hand-incoordination-in-chronic-cerebral-injury
#2
John-Ross Rizzo, James K Fung, Maryam Hosseini, Azadeh Shafieesabet, Edmond Ahdoot, Rosa M Pasculli, Janet C Rucker, Preeti Raghavan, Michael S Landy, Todd E Hudson
It is widely accepted that cerebral pathology can impair ocular motor and manual motor control. This is true in indolent and chronic processes, such as neurodegeneration and in acute processes such as stroke or those secondary to neurotrauma. More recently, it has been suggested that disruptions in these control systems are useful markers for prognostication and longitudinal monitoring. The utility of examining the relationship or the coupling between these systems has yet to be determined. We measured eye and hand-movement control in chronic, middle cerebral artery stroke, relative to healthy controls, in saccade-to-reach paradigms to assess eye-hand coordination...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28681623/psychiatric-comorbidities-in-movement-disorders
#3
Adán Miguel-Puga, Gabriel Villafuerte, Oscar Arias-Carrión
Psychiatric comorbidities are common in movement disorders. This review provides a practical approach to help clinicians to recognize psychiatric disorders in the most frequent movement disorders. However, the extent of neurodegeneration, as well as the impact of medications with considerable CNS effects, influences the diverse psychiatric presentations that, in turn, are influenced by the stress of living with a movement disorder. Depression, anxiety, and psychosis are the most common psychiatric comorbidities in movement disorders and of the medications used to treat the motor disturbances...
July 6, 2017: International Review of Psychiatry
https://www.readbyqxmd.com/read/28674979/huntington-s-disease-pathogenic-mechanisms-and-therapeutic-targets
#4
Dean J Wright, Thibault Renoir, Laura J Gray, Anthony J Hannan
Huntington's disease (HD) is a tandem repeat disorder involving neurodegeneration and a complex combination of symptoms. These include psychiatric symptoms, cognitive deficits culminating in dementia, and the movement disorder epitomised by motor signs such as chorea. HD is caused by a CAG repeat expansion encoding an extended tract of the amino acid glutamine in the huntingtin protein. This polyglutamine expansion appears to induce a 'change of function', possibly a 'gain of function', in the huntingtin protein, which leads to various molecular and cellular cascades of pathogenesis...
2017: Advances in Neurobiology
https://www.readbyqxmd.com/read/28672841/clinicopathological-phenotype-and-genetics-of-x-linked-dystonia-parkinsonism-xdp-dyt3-lubag
#5
REVIEW
Toshitaka Kawarai, Ryoma Morigaki, Ryuji Kaji, Satoshi Goto
X-linked dystonia-parkinsonism (XDP; OMIM314250), also referred to as DYT3 dystonia or "Lubag" disease, was first described as an endemic disease in the Philippine island of Panay. XDP is an adult-onset movement disorder characterized by progressive and severe dystonia followed by overt parkinsonism in the later years of life. Among the primary monogenic dystonias, XDP has been identified as a transcriptional dysregulation syndrome with impaired expression of the TAF1 (TATA box-binding protein associated factor 1) gene, which is a critical component of the cellular transcription machinery...
June 26, 2017: Brain Sciences
https://www.readbyqxmd.com/read/28664402/reduced-proliferation-of-oligodendrocyte-progenitor-cells-in-the-postnatal-brain-of-dystonia-musculorum-mice
#6
M Ibrahim Hossain, Masao Horie, Hirohide Takebayashi
Dystonia musculorum (dt) mice show sensory neurodegeneration and movement disorder, such as dystonia and cerebellar ataxia. The causative gene Dystonin (Dst) encodes a cytoskeleton linker protein. Although sensory neurodegeneration has been well studied, glial cell responses in the central nervous system (CNS) are poorly understood. Here, we investigated cell proliferation in the CNS of Dst (Gt) homozygous mice using newly generated in situ hybridization (ISH) probes-Ki-67 and proliferating cell nuclear antigen (PCNA) probes-both of which effectively detect proliferating cells...
June 29, 2017: Neurochemical Research
https://www.readbyqxmd.com/read/28649609/insomnia-and-somnolence-in-idiopathic-rbd-a-prospective-cohort-study
#7
Ronald B Postuma, Jean-François Gagnon, Amelie Pelletier, Jacques Y Montplaisir
Although some sleep disorders are markers of prodromal Parkinson's disease and dementia with Lewy bodies, it is unclear whether insomnia and somnolence can predict disease. We assessed a large cohort of patients with idiopathic rapid eye movement sleep behavior disorder and age/sex matched controls, comparing the Epworth sleepiness scale, the Insomnia Severity Index, the Pittsburgh Sleep Quality Index, and polysomnographic variables. In those with repeated scales, we assessed change over time. Finally, we assessed whether sleep abnormalities predicted defined neurodegenerative disease...
2017: NPJ Parkinson's Disease
https://www.readbyqxmd.com/read/28643035/clinical-and-imaging-presentation-of-a%C3%A2-patient-with-beta-propeller-protein-associated-neurodegeneration-a%C3%A2-rare-and-sporadic-form-of-neurodegeneration-with-brain-iron-accumulation-nbia
#8
Elke Hattingen, Nikolaus Handke, Kirsten Cremer, Sabine Hoffjan, Guido Matthias Kukuk
Neurodegeneration with brain iron accumulation (NBIA) is a heterogeneous group of inherited neurologic disorders with iron accumulation in the basal ganglia, which share magnetic resonance (MR) imaging characteristics, histopathologic and clinical features. According to the affected basal nuclei, clinical features include extrapyramidal movement disorders and varying degrees of intellectual disability status. The most common NBIA subtype is caused by pathogenic variants in PANK2. The hallmark of MR imaging in patients with PANK2 mutations is an eye-of-the-tiger sign in the globus pallidus...
June 22, 2017: Clinical Neuroradiology
https://www.readbyqxmd.com/read/28619181/multifactorial-sleep-disturbance-in-parkinson-s-disease
#9
REVIEW
J Andrew Albers, Pratap Chand, A Michael Anch
Parkinson's disease (PD) is the second most common neurodegenerative disorder, ranking only behind Alzheimer's disease and affecting 2% of the population over the age of 65. Pathophysiologically, PD is characterized by selective degeneration of the dopaminergic neurons of the substantia nigra pars compacta (SNpc) and striatal dopamine depletion. Patients may also exhibit mild-to-severe degeneration of other central and peripheral nervous tissues. The most dramatic symptoms of the disease are profound dopamine-responsive motor disturbances, including bradykinesia, akinesia, rigidity, resting tremor, and postural instability...
July 2017: Sleep Medicine
https://www.readbyqxmd.com/read/28574926/hyposmia-symptoms-of-rapid-eye-movement-sleep-behavior-disorder-and-parkinsonian-motor-signs-suggest-prodromal-neurodegeneration-in-22q11-deletion-syndrome
#10
Ellen Buckley, Azeem Siddique, Alisdair McNeill
The 22q11 deletion syndrome (22q11DS) is one of the most common genomic disorders in humans. There is an increased risk of Parkinson's disease (PD) in individuals with 22q11DS. The characteristic motor features of PD begin when more than 50% of dopaminergic neurons in the substantia nigra have degenerated. Before this, there is a prodromal period, of up to 20 years, in which nonmotor features such as hyposmia, autonomic dysfunction, rapid eye movement sleep behavior disorder, and subtle motor dysfunction can occur...
August 2, 2017: Neuroreport
https://www.readbyqxmd.com/read/28564598/a-glio-protective-role-of-mir-263a-by-tuning-sensitivity-to-glutamate
#11
Sherry Shiying Aw, Isaac Kok Hwee Lim, Melissa Xue Mei Tang, Stephen Michael Cohen
Glutamate is a ubiquitous neurotransmitter, mediating information flow between neurons. Defects in the regulation of glutamatergic transmission can result in glutamate toxicity, which is associated with neurodegeneration. Interestingly, glutamate receptors are expressed in glia, but little is known about their function, and the effects of their misregulation, in these non-neuronal cells. Here, we report a glio-protective role for Drosophila mir-263a mediated by its regulation of glutamate receptor levels in glia...
May 30, 2017: Cell Reports
https://www.readbyqxmd.com/read/28544256/intrinsic-functional-connectivity-alterations-in-progressive-supranuclear-palsy-differential-effects-in-frontal-cortex-motor-and-midbrain-networks
#12
Johannes Rosskopf, Martin Gorges, Hans-Peter Müller, Dorothée Lulé, Ingo Uttner, Albert C Ludolph, Elmar Pinkhardt, Freimut D Juengling, Jan Kassubek
BACKGROUND: The topography of functional network changes in progressive supranuclear palsy can be mapped by intrinsic functional connectivity MRI. The objective of this study was to study functional connectivity and its clinical and behavioral correlates in dedicated networks comprising the cognition-related default mode and the motor and midbrain functional networks in patients with PSP. METHODS: Whole-brain-based "resting-state" functional MRI and high-resolution T1-weighted magnetic resonance imaging data together with neuropsychological and video-oculographic data from 34 PSP patients (22 with Richardson subtype and 12 with parkinsonian subtype) and 35 matched healthy controls were subjected to network-based functional connectivity and voxel-based morphometry analysis...
July 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28539529/membrane-trafficking-illuminates-a-path-to-parkinson-s-disease
#13
Takafumi Hasegawa, Naoto Sugeno, Akio Kikuchi, Toru Baba, Masashi Aoki
Parkinson's disease (PD) is the second most common neurodegenerative disorder that is characterized by progressive movement disability and a variety of non-motor symptoms. The neuropathology of PD consists of the loss of dopaminergic neurons in the midbrain and the appearance of neuronal inclusions called Lewy bodies, which contain insoluble α-synuclein, a relatively small protein originally identified in association with synaptic vesicles in the presynaptic nerve terminals. Drugs that replenish dopamine can partly alleviate the motor symptoms, but they do not cure the disease itself...
May 2017: Tohoku Journal of Experimental Medicine
https://www.readbyqxmd.com/read/28527629/p62-sequestosome-1-knockout-delays-neurodegeneration-induced-by-drp1-loss
#14
Tatsuya Yamada, Yoshihiro Adachi, Toru Yanagawa, Miho Iijima, Hiromi Sesaki
Purkinje neurons, one of the largest neurons in the brain, are critical for controlling body movements, and the dysfunction and degeneration of these cells cause ataxia. Purkinje neurons require a very efficient energy supply from mitochondria because of their large size and extensive dendritic arbors. We have previously shown that mitochondrial division mediated by dynamin-related protein 1 (Drp1) is critical for the development and survival of Purkinje neurons. Drp1 deficiency has been associated with one of the major types of ataxia: autosomal recessive spastic ataxia of Charlevoix Saguenay...
May 17, 2017: Neurochemistry International
https://www.readbyqxmd.com/read/28515689/current-experimental-studies-of-gene-therapy-in-parkinson-s-disease
#15
REVIEW
Jing-Ya Lin, Cheng-Long Xie, Su-Fang Zhang, Weien Yuan, Zhen-Guo Liu
Parkinson's disease (PD) was characterized by late-onset, progressive dopamine neuron loss and movement disorders. The progresses of PD affected the neural function and integrity. To date, most researches had largely addressed the dopamine replacement therapies, but the appearance of L-dopa-induced dyskinesia hampered the use of the drug. And the mechanism of PD is so complicated that it's hard to solve the problem by just add drugs. Researchers began to focus on the genetic underpinnings of Parkinson's disease, searching for new method that may affect the neurodegeneration processes in it...
2017: Frontiers in Aging Neuroscience
https://www.readbyqxmd.com/read/28513079/rem-sleep-behavior-disorder-in-parkinson-s-disease-and-other-synucleinopathies
#16
REVIEW
Erik K St Louis, Angelica R Boeve, Bradley F Boeve
Rapid eye movement sleep behavior disorder is characterized by dream enactment and complex motor behaviors during rapid eye movement sleep and rapid eye movement sleep atonia loss (rapid eye movement sleep without atonia) during polysomnography. Rapid eye movement sleep behavior disorder may be idiopathic or symptomatic and in both settings is highly associated with synucleinopathy neurodegeneration, especially Parkinson's disease, dementia with Lewy bodies, multiple system atrophy, and pure autonomic failure...
May 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28509336/application-of-the-movement-disorder-society-prodromal-parkinson-s-disease-research-criteria-in-2-independent-prospective-cohorts
#17
Andrea Pilotto, Sebastian Heinzel, Ulrike Suenkel, Stefanie Lerche, Kathrin Brockmann, Benjamin Roeben, Eva Schaeffer, Isabel Wurster, Rezzak Yilmaz, Inga Liepelt-Scarfone, Anna-Katharina von Thaler, Florian G Metzger, Gerhard W Eschweiler, Ron B Postuma, Walter Maetzler, Daniela Berg
BACKGROUND: The research criteria for prodromal PD of the MDS propose a new approach for the assessment of the individual probability of prodromal PD. These criteria require a testing of their reliability in different prospective cohorts. OBJECTIVES: The objective was to evaluate the MDS prodromal PD criteria in 2 independent prospective studies. METHODS: Prodromal PD probabilities of the Tübingen Evaluation of Risk Factors for Early Detection of Neurodegeneration cohort (TREND study, n = 650, recruited by the presence of probable rapid eye movement sleep behavior disorder, depression, and/or hyposmia or none of these at baseline and 2-, 4-, and 6-year follow-up) and the population-based Prospective Evaluation of Risk Factors for Idiopathic Parkinson's Syndrome cohort (PRIPS Tübingen subsample; n = 715, baseline and 3- and 5-year follow-up) were calculated...
July 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28506426/heterogeneity-of-fhf1-related-phenotype-novel-case-with-early-onset-severe-attacks-of-apnea-partial-mitochondrial-respiratory-chain-complex-ii-deficiency-neonatal-onset-seizures-without-neurodegeneration
#18
Nathalie Villeneuve, Affef Abidi, Pierre Cacciagli, Cécile Mignon-Ravix, Brigitte Chabrol, Laurent Villard, Mathieu Milh
INTRODUCTION/OBJECTIVES: We report the case of a child prospectively followed in our institution for a severe, neonatal onset epilepsy presenting with severe attacks of apnea that were not initially recognized as seizure since they were not associated with any abnormal movement and since interictal EEG was normal. Recording of attacks using prolonged video-EEG recording allowed to confirm the diagnosis of epileptic seizures. RESULTS: Using whole exome sequencing we found a de novo heterozygous, missense mutation of FHF1 (p...
April 29, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28472425/prodromal-parkinsonism-and-neurodegenerative-risk-stratification-in-rem-sleep-behaviour-disorder
#19
Thomas R Barber, Michael Lawton, Michal Rolinski, Samuel Evetts, Fahd Baig, Claudio Ruffmann, Aimie Gornall, Johannes C Klein, Christine Lo, Gary Dennis, Oliver Bandmann, Timothy Quinnell, Zenobia Zaiwalla, Yoav Ben-Shlomo, Michele Tm Hu
Objectives.: REM sleep behaviour disorder (RBD) is the most specific marker of prodromal alpha-synucleinopathies. We sought to delineate the baseline clinical characteristics of RBD and evaluate risk stratification models. Methods.: Clinical assessments were performed in 171 RBD, 296 control and 119 untreated Parkinson's (PD) subjects. Putative risk measures were assessed as predictors of prodromal neurodegeneration and Movement Disorders Society (MDS) criteria for prodromal PD were applied...
May 4, 2017: Sleep
https://www.readbyqxmd.com/read/28455141/identification-of-potential-therapeutic-compounds-for-parkinson-s-disease-using-drosophila-and-human-cell-models
#20
Francisco José Sanz, Cristina Solana-Manrique, Verónica Muñoz-Soriano, Pablo Calap-Quintana, María Dolores Moltó, Nuria Paricio
Parkinson's disease (PD) is the second most common neurodegenerative disorder after Alzheimer's disease. It is caused by a loss of dopaminergic neurons in the substantia nigra pars compacta, leading to a decrease in dopamine levels in the striatum and thus producing movement impairment. Major physiological causes of neurodegeneration in PD are oxidative stress (OS) and mitochondrial dysfunction; these pathophysiological changes can be caused by both genetic and environmental factors. Although most PD cases are sporadic, it has been shown that 5-10% of them are familial forms caused by mutations in certain genes...
April 25, 2017: Free Radical Biology & Medicine
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