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movement and neurodegeneration

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https://www.readbyqxmd.com/read/28394031/degeneration-of-rapid-eye-movement-sleep-circuitry-underlies-rapid-eye-movement-sleep-behavior-disorder
#1
REVIEW
Dillon McKenna, John Peever
During healthy rapid eye movement sleep, skeletal muscles are actively forced into a state of motor paralysis. However, in rapid eye movement sleep behavior disorder-a relatively common neurological disorder-this natural process is lost. A lack of motor paralysis (atonia) in rapid eye movement sleep behavior disorder allows individuals to actively move, which at times can be excessive and violent. At first glance this may sound harmless, but it is not because rapid eye movement sleep behavior disorder patients frequently injure themselves or the person they sleep with...
April 10, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28394027/changes-in-the-cell-population-in-brain-white-matter-in-multiple-system-atrophy
#2
Charlotte Havelund Nykjaer, Tomasz Brudek, Lisette Salvesen, Bente Pakkenberg
BACKGROUND: Multiple system atrophy (MSA) is a sporadic progressive neurodegenerative disorder with adult onset and unknown etiology. Clinically it is characterized by autonomic failure, cerebellar ataxia, parkinsonism, and corticospinal dysfunction in any combination and with varying severity. OBJECTIVES AND METHODS: To establish the extent of involvement of the white matter in the disease, we have used stereology to quantify the total number of neurons and glial cells (oligodendrocytes, astrocytes, and microglia) in the brains from 10 MSA patients and 11 controls...
April 10, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28377290/synaptopathic-mechanisms-of-neurodegeneration-and-dementia-insights-from-huntington-s-disease
#3
REVIEW
Shiraz Tyebji, Anthony J Hannan
Dementia encapsulates a set of symptoms that include loss of mental abilities such as memory, problem solving or language, and reduces a person's ability to perform daily activities. Alzheimer's disease is the most common form of dementia, however dementia can also occur in other neurological disorders such as Huntington's disease (HD). Many studies have demonstrated that loss of neuronal cell function manifests pre-symptomatically and thus is a relevant therapeutic target to alleviate symptoms. Synaptopathy, the physiological dysfunction of synapses, is now being approached as the target for many neurological and psychiatric disorders, including HD...
April 1, 2017: Progress in Neurobiology
https://www.readbyqxmd.com/read/28370449/the-role-of-high-field-magnetic-resonance-imaging-in-parkinsonian-disorders-pushing-the-boundaries-forward
#4
REVIEW
Stéphane Lehericy, David E Vaillancourt, Klaus Seppi, Oury Monchi, Irena Rektorova, Angelo Antonini, Martin J McKeown, Mario Masellis, Daniela Berg, James B Rowe, Simon J G Lewis, Caroline H Williams-Gray, Alessandro Tessitore, Hartwig R Siebner
Historically, magnetic resonance imaging (MRI) has contributed little to the study of Parkinson's disease (PD), but modern MRI approaches have unveiled several complementary markers that are useful for research and clinical applications. Iron- and neuromelanin-sensitive MRI detect qualitative changes in the substantia nigra. Quantitative MRI markers can be derived from diffusion weighted and iron-sensitive imaging or volumetry. Functional brain alterations at rest or during task performance have been captured with functional and arterial spin labeling perfusion MRI...
April 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28353286/interaction-of-lrrk2-and-%C3%AE-synuclein-in-parkinson-s-disease
#5
João Paulo Lima Daher
Parkinson's disease (PD) is a progressively debilitating neurodegenerative syndrome. It is best described as a movement disorder characterized by motor dysfunctions, progressive degeneration of dopaminergic neurons of the substantia nigra pars compacta, and abnormal intraneuronal protein aggregates, named Lewy bodies and Lewy neurites. Nevertheless, knowledge of the molecular events leading to this pathophysiology is incomplete. To date, only mutations in the α-synuclein and LRRK2-encoding genes have been associated with typical findings of clinical and pathologic PD...
2017: Advances in Neurobiology
https://www.readbyqxmd.com/read/28329332/excessive-daytime-sleepiness-predicts-neurodegeneration-in-idiopathic-rem-sleep-behavior-disorder
#6
Junying Zhou, Jihui Zhang, Siu Ping Lam, Joey Wy Chan, Vincent Mok, Anne Chan, Shirley Xin Li, Yaping Liu, Xiangdong Tang, Wing Ho Yung, Yun Kwok Wing
Study Objectives: To determine the association of excessive daytime sleepiness (EDS) with the conversion of neurodegenerative diseases in patients with idiopathic REM sleep behavior disorder (iRBD). Methods: A total of 179 patients with iRBD (79.1% males, mean age = 66.3 ± 9.8 years) were consecutively recruited. Forty-five patients with Epworth Sleepiness Scale score ≥ 14 were defined as having EDS. Demographic, clinical and polysomnographic data were compared between iRBD patients with and without EDS...
March 16, 2017: Sleep
https://www.readbyqxmd.com/read/28275652/altered-sleep-and-eeg-power-in-the-p301s-tau-transgenic-mouse-model
#7
Jerrah K Holth, Thomas E Mahan, Grace O Robinson, Andreia Rocha, David M Holtzman
OBJECTIVE: Sleep disturbances are prevalent in human tauopathies yet despite the importance of sleep, little is known about its relationship with tau pathology. Here, we investigate this interaction by analyzing sleep and tau pathology throughout tauopathy disease progression in P301S human tau transgenic mice. METHODS: P301S and wild-type mice were analyzed by electroencephalography (EEG)/electromyography at 3, 6, 9, and 11 months of age for sleep/wake time, EEG power, and homeostatic response...
March 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28273839/parkinson-s-disease-from-pathogenesis-to-pharmacogenomics
#8
REVIEW
Ramón Cacabelos
Parkinson's disease (PD) is the second most important age-related neurodegenerative disorder in developed societies, after Alzheimer's disease, with a prevalence ranging from 41 per 100,000 in the fourth decade of life to over 1900 per 100,000 in people over 80 years of age. As a movement disorder, the PD phenotype is characterized by rigidity, resting tremor, and bradykinesia. Parkinson's disease -related neurodegeneration is likely to occur several decades before the onset of the motor symptoms. Potential risk factors include environmental toxins, drugs, pesticides, brain microtrauma, focal cerebrovascular damage, and genomic defects...
March 4, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28261264/ferrous-iron-up-regulation-in-fibroblasts-of-patients-with-beta-propeller-protein-associated-neurodegeneration-bpan
#9
Rosaria Ingrassia, Maurizio Memo, Barbara Garavaglia
Mutations in WDR45 gene, coding for a beta-propeller protein, have been found in patients affected by Neurodegeneration with Brain Iron Accumulation, NBIA5 (also known as BPAN). BPAN is a movement disorder with Non Transferrin Bound Iron (NTBI) accumulation in the basal ganglia as common hallmark between NBIA classes (Hayflick et al., 2013). WDR45 has been predicted to have a role in autophagy, while the impairment of iron metabolism in the different NBIA subclasses has not currently been clarified. We found the up-regulation of the ferrous iron transporter (-)IRE/Divalent Metal Transporter1 and down-regulation of Transferrin receptor in the fibroblasts of two BPAN affected patients with splicing mutations 235+1G>A (BPAN1) and 517_519ΔVal 173 (BPAN2)...
2017: Frontiers in Genetics
https://www.readbyqxmd.com/read/28256108/prodromal-spinocerebellar-ataxia-type-2-prospects-for-early-interventions-and-ethical-challenges
#10
REVIEW
Luis Velázquez-Pérez, Roberto Rodríguez-Labrada, José Miguel Laffita-Mesa
The characterization of prodromal stages in neurodegenerative disorders is becoming increasingly important because of the need for early neuroprotective therapies. Research during the past 3 decades in spinocerebellar ataxia type 2 has revealed a large body of evidence suggesting that many disease features precede the manifest cerebellar syndrome, which delineates the prodromal stage of this disorder. This stage is defined by clinical, imaging, and functional criteria, which are supported by early molecular events demonstrated in animal models...
March 3, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28251677/mitochondrial-dna-and-primary-mitochondrial-dysfunction-in-parkinson-s-disease
#11
REVIEW
Maria Pia Giannoccaro, Chiara La Morgia, Giovanni Rizzo, Valerio Carelli
In 1979, it was observed that parkinsonism could be induced by a toxin inhibiting mitochondrial respiratory complex I. This initiated the long-standing hypothesis that mitochondrial dysfunction may play a key role in the pathogenesis of Parkinson's disease (PD). This hypothesis evolved, with accumulating evidence pointing to complex I dysfunction, which could be caused by environmental or genetic factors. Attention was focused on the mitochondrial DNA, considering the occurrence of mutations, polymorphic haplogroup-specific variants, and defective mitochondrial DNA maintenance with the accumulation of multiple deletions and a reduction of copy number...
March 2, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28236370/striatal-dysfunction-in-x-linked-dystonia-parkinsonism-is-associated-with-disease-progression
#12
N Brüggemann, R L Rosales, J L Waugh, A J Blood, A Domingo, M Heldmann, R D Jamora, A Münchau, T F Münte, L V Lee, I Buchmann, C Klein
BACKGROUND AND PURPOSE: X-linked dystonia-parkinsonism (XDP) is an inherited neurodegenerative adult-onset movement disorder associated with striatal atrophy. As the dopaminergic system has not yet been systemically studied in this basal ganglia model disease, it is unclear whether nigrostriatal dysfunction contributes to parkinsonism in XDP. METHODS: Pre- and post-synaptic dopaminergic function was assessed in XDP. A total of 10 (123) jod-benzamide (IBZM) single-photon emission computed tomography (SPECT) images were obtained for nine patients aged 42...
February 25, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28235672/neurobiology-of-axonal-transport-defects-in-motor-neuron-diseases-opportunities-for-translational-research
#13
REVIEW
Kurt J De Vos, Majid Hafezparast
Intracellular trafficking of cargoes is an essential process to maintain the structure and function of all mammalian cell types, but especially of neurons because of their extreme axon/dendrite polarisation. Axonal transport mediates the movement of cargoes such as proteins, mRNA, lipids, membrane-bound vesicles and organelles that are mostly synthesised in the cell body and in doing so is responsible for their correct spatiotemporal distribution in the axon, for example at specialised sites such as nodes of Ranvier and synaptic terminals...
February 22, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28224046/eighth-international-chorea-acanthocytosis-symposium-summary-of-workshop-discussion-and-action-points
#14
Samuel S Pappas, Juan Bonifacino, Adrian Danek, William T Dauer, Mithu De, Lucia De Franceschi, Gilbert DiPaolo, Robert Fuller, Volker Haucke, Andreas Hermann, Benoit Kornmann, Bernhard Landwehrmeyer, Johannes Levin, Aaron M Neiman, Dobrila D Rudnicki, Ody Sibon, Antonio Velayos-Baeza, Jan J Vonk, Ruth H Walker, Lois S Weisman, Roger L Albin
Chorea-Acanthocytosis (ChAc) is a rare hereditary neurological disorder characterized by abnormal movements, red blood cell pathology, and progressive neurodegeneration. Little is understood of the pathogenesis of ChAc and related disorders (collectively Neuroacanthocytosis). The Eighth International Chorea-Acanthocytosis Symposium was held in May 2016 in Ann Arbor, MI, USA, and focused on molecular mechanisms driving ChAc pathophysiology. Accompanying the meeting, members of the neuroacanthocytosis research community and other invited scientists met in a workshop to discuss the current understanding and next steps needed to better understand ChAc pathogenesis...
2017: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/28203480/a-novel-immunosuppressor-5r-5-hydroxytriptolide-alleviates-movement-disorder-and-neuroinflammation-in-a-6-ohda-hemiparkinsonian-rat-model
#15
Ruijun Su, Min Sun, Wei Wang, Jianliang Zhang, Li Zhang, Junli Zhen, Yanjing Qian, Yan Zheng, Xiaomin Wang
Parkinson's disease (PD) is one of the most common age-related neurodegenerative diseases. Promising therapies for PD still need to be explored. Immune dysfunction has been found to be involved in PD pathogenesis. Here, a novel immunosuppressor, (5R)-5-hydroxytriptolide (LLDT8), was used to treat 6-hydroxydopamine (6-OHDA)-induced hemiparkinson rats. We found that oral administration of LLDT8 significantly alleviated apomorphine-induced rotations at a dose of 125 µg/kg, and improved performance in cylinder and rotarod tests at a lower dose of 31...
February 2017: Aging and Disease
https://www.readbyqxmd.com/read/28168008/protective-effect-of-antioxidants-on-neuronal-dysfunction-and-plasticity-in-huntington-s-disease
#16
REVIEW
Thirunavukkarasu Velusamy, Archana S Panneerselvam, Meera Purushottam, Muthuswamy Anusuyadevi, Pramod Kumar Pal, Sanjeev Jain, Musthafa Mohamed Essa, Gilles J Guillemin, Mahesh Kandasamy
Huntington's disease (HD) is characterised by movement disorders, cognitive impairments, and psychiatric problems. The abnormal generation of reactive oxygen species and the resulting oxidative stress-induced mitochondrial damage in neurons upon CAG mutations in the HTT gene have been hypothesized as the contributing factors of neurodegeneration in HD. The potential use of antioxidants against free radical toxicity has been an emerging field in the management of ageing and many neurodegenerative disorders. Neural stem cells derived adult neurogenesis represents the regenerative capacity of the adult brain...
2017: Oxidative Medicine and Cellular Longevity
https://www.readbyqxmd.com/read/28144037/automated-analysis-of-connected-speech-reveals-early-biomarkers-of-parkinson-s-disease-in-patients-with-rapid-eye-movement-sleep-behaviour-disorder
#17
Jan Hlavnička, Roman Čmejla, Tereza Tykalová, Karel Šonka, Evžen Růžička, Jan Rusz
For generations, the evaluation of speech abnormalities in neurodegenerative disorders such as Parkinson's disease (PD) has been limited to perceptual tests or user-controlled laboratory analysis based upon rather small samples of human vocalizations. Our study introduces a fully automated method that yields significant features related to respiratory deficits, dysphonia, imprecise articulation and dysrhythmia from acoustic microphone data of natural connected speech for predicting early and distinctive patterns of neurodegeneration...
December 2017: Scientific Reports
https://www.readbyqxmd.com/read/28116784/management-of-sleep-disorders-in-parkinson-s-disease-and-multiple-system-atrophy
#18
REVIEW
Aleksandar Videnovic
Parkinson's disease (PD) and multiple system atrophy (MSA) are disorders associated with α synuclein-related neurodegeneration. Nonmotor symptoms are common hallmarks of these disorders, and disturbances of the sleep-wake cycle are among the most common nonmotor symptoms. It is only recently that sleep disturbances have received the attention of the medical and research community. Significant progress has been made in understanding the pathophysiology of sleep and wake disruption in alphasynucleinopathies during the past few decades...
January 24, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28063152/dysfunction-of-central-control-of-breathing-in-amyotrophic-lateral-sclerosis
#19
Bradley N Howell, Daniel S Newman
Dysfunction in central control of breathing in some amyotrophic lateral sclerosis (ALS) patients is not adequately detected with standard evaluation for respiratory dysfunction. Nocturnal oximetry reveals periodic desaturations despite normal respiratory muscle movements. Continuous diaphragmatic electromyography has provided in vivo data consistent with impaired central control of diaphragm motor units. Current understanding of central control of breathing identifies the pre-Botzinger complex as the inspiratory rhythm generator...
January 7, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28055131/subthalamic-nuclei-stimulation-in-patients-with-pantothenate-kinase-associated-neurodegeneration-pkan
#20
Ziyuan Liu, Yang Liu, Yingmai Yang, Lin Wang, Wanchen Dou, Jinzhu Guo, Yu Wang, Yi Guo, Xinhua Wan, Wenbin Ma, Renzhi Wang
INTRODUCTION: Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive genetic disease that leads to extrapyramidal symptoms, such as dystonia, ataxia, dysarthria, and involuntary movements. Treatment of PKAN with deep brain stimulation (DBS) has been reported, but mainly focuses on targeting the globus pallidus internus (GPi). Subthalamic nuclei (STN) may also be a potential target for treatment of PKAN. METHODS: In this study, we reviewed three patients with PKAN (two with typical PKAN and one with atypical PKAN) treated by bilateral STN stimulation and present a review of the literature...
January 5, 2017: Neuromodulation: Journal of the International Neuromodulation Society
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