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https://www.readbyqxmd.com/read/29346549/transcriptome-and-functional-analysis-in-a-drosophila-model-of-ngly1-deficiency-provides-insight-into-therapeutic-approaches
#1
Katie G Owings, Joshua B Lowry, Yiling Bi, Matthew Might, Clement Y Chow
Autosomal recessive loss-of-function mutations in N-Glycanase 1 (NGLY1) cause NGLY1 deficiency, the only known human disease of deglycosylation. Patients present with developmental delay, movement disorder, seizures, liver dysfunction, and alacrima. NGLY1 is a conserved cytoplasmic component of the Endoplasmic Reticulum Associated Degradation (ERAD) pathway. ERAD clears misfolded proteins from the ER lumen. However, it is unclear how loss of NGLY1 function impacts ERAD and other cellular processes and results in the constellation of problems associated with NGLY1 deficiency...
January 15, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29343628/keeping-the-home-fires-burning-amp-activated-protein-kinase
#2
REVIEW
D Grahame Hardie
Living cells obtain energy either by oxidizing reduced compounds of organic or mineral origin or by absorbing light. Whichever energy source is used, some of the energy released is conserved by converting adenosine diphosphate (ADP) to adenosine triphosphate (ATP), which are analogous to the chemicals in a rechargeable battery. The energy released by the conversion of ATP back to ADP is used to drive most energy-requiring processes, including cell growth, cell division, communication and movement. It is clearly essential to life that the production and consumption of ATP are always maintained in balance, and the AMP-activated protein kinase (AMPK) is one of the key cellular regulatory systems that ensures this...
January 2018: Journal of the Royal Society, Interface
https://www.readbyqxmd.com/read/29342497/non-antipsychotic-catecholaminergic-drugs-for-antipsychotic-induced-tardive-dyskinesia
#3
REVIEW
Hany G El-Sayeh, John Rathbone, Karla Soares-Weiser, Hanna Bergman
BACKGROUND: Tardive dyskinesia (TD) is a disabling movement disorder associated with the prolonged use of antipsychotic medication. Several strategies have been examined in the treatment of TD. Currently, however, there is no clear evidence of the effectiveness of these drugs in TD and they have been associated with many side effects. One particular strategy would be to use pharmaceutical agents which are known to influence the catecholaminergic system at various junctures. OBJECTIVES: 1...
January 18, 2018: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29341821/deuterium-tetrabenazine-for-tardive-dyskinesia
#4
Michael A Cummings, George J Proctor, Stephen M Stahl
Tardive dyskinesia remains a significant, potentially stigmatizing or crippling adverse effect for any patient treated with an antipsychotic medication. While second- and third-generation antipsychotics have exhibited lower annual incidence rates for tardive dyskinesia than classic or first-generation agents, 3.9% versus 5.5%, the estimated incidence rate is only modestly lower. When coupled with the fact that second- and third-generation antipsychotic medications have come to be employed in treating a wider range of disorders (e...
January 2018: Clinical Schizophrenia & related Psychoses
https://www.readbyqxmd.com/read/29341130/mitochondrial-function-and-autophagy-integrating-proteotoxic-redox-and-metabolic-stress-in-parkinson-s-disease
#5
REVIEW
Jianhua Zhang, M Lillian Culp, Jason G Craver, Victor Darley-Usmar
Parkinson's disease (PD) is a movement disorder with widespread neurodegeneration in the brain. Significant oxidative, reductive, metabolic, and proteotoxic alterations have been observed in PD postmortem brains. The alterations of mitochondrial function resulting in decreased bioenergetic health is important and needs to be further examined to help develop biomarkers for PD severity and prognosis. It is now becoming clear that multiple hits on metabolic and signaling pathways are likely to exacerbate PD pathogenesis...
January 17, 2018: Journal of Neurochemistry
https://www.readbyqxmd.com/read/29341071/anticholinergic-medication-for-antipsychotic-induced-tardive-dyskinesia
#6
REVIEW
Hanna Bergman, Karla Soares-Weiser
BACKGROUND: Antipsychotic (neuroleptic) medication is used extensively to treat people with serious mental illnesses. However, it is associated with a wide range of adverse effects, including movement disorders. Because of this, many people treated with antipsychotic medication also receive anticholinergic drugs in order to reduce some of the associated movement side-effects. However, there is also a suggestion from animal experiments that the chronic administration of anticholinergics could cause tardive dyskinesia...
January 17, 2018: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29341067/vitamin-e-for-antipsychotic-induced-tardive-dyskinesia
#7
REVIEW
Karla Soares-Weiser, Nicola Maayan, Hanna Bergman
BACKGROUND: Antipsychotic (neuroleptic) medication is used extensively to treat people with chronic mental illnesses. Its use, however, is associated with adverse effects, including movement disorders such as tardive dyskinesia (TD) - a problem often seen as repetitive involuntary movements around the mouth and face. Vitamin E has been proposed as a treatment to prevent or decrease TD. OBJECTIVES: The primary objective was to determine the clinical effects of vitamin E in people with schizophrenia or other chronic mental illness who had developed antipsychotic-induced TD...
January 17, 2018: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29340715/postural-control-and-the-relation-with-cervical-sensorimotor-control-in-patients-with-idiopathic-adult-onset-cervical-dystonia
#8
J De Pauw, R Mercelis, A Hallemans, G Van Gils, S Truijen, P Cras, W De Hertogh
Cervical dystonia (CD) is a movement disorder characterized by involuntary muscle contractions leading to an abnormal head posture or movements of the neck. Dysfunctions in somatosensory integration are present and previous data showed enlarged postural sway in stance. Postural control during quiet sitting and the correlation with cervical sensorimotor control were investigated. Postural control during quiet sitting was measured via body sway parameters in 23 patients with CD, regularly receiving botulinum toxin treatment and compared with 36 healthy controls...
January 16, 2018: Experimental Brain Research. Experimentelle Hirnforschung. Expérimentation Cérébrale
https://www.readbyqxmd.com/read/29340614/association-of-polygenic-risk-score-with-cognitive-decline-and-motor-progression-in-parkinson-disease
#9
Kimberly C Paul, Jessica Schulz, Jeff M Bronstein, Christina M Lill, Beate R Ritz
Importance: Genetic factors have a well-known influence on Parkinson disease (PD) susceptibility. The largest genome-wide association study (GWAS) identified 26 independent single-nucleotide polymorphisms (SNPs) associated with PD risk. Among patients, the course and severity of symptom progression is variable, and little is known about the potential association of genetic factors with phenotypic variance. Objective: To assess whether GWAS-identified PD risk SNPs also have a cumulative association with the progression of cognitive and motor symptoms in patients with PD...
January 16, 2018: JAMA Neurology
https://www.readbyqxmd.com/read/29339922/effect-of-rhythmic-auditory-cueing-on-gait-in-cerebral-palsy-a-systematic-review-and-meta-analysis
#10
REVIEW
Shashank Ghai, Ishan Ghai, Alfred O Effenberg
Auditory entrainment can influence gait performance in movement disorders. The entrainment can incite neurophysiological and musculoskeletal changes to enhance motor execution. However, a consensus as to its effects based on gait in people with cerebral palsy is still warranted. A systematic review and meta-analysis were carried out to analyze the effects of rhythmic auditory cueing on spatiotemporal and kinematic parameters of gait in people with cerebral palsy. Systematic identification of published literature was performed adhering to Preferred Reporting Items for Systematic Reviews and Meta-Analyses and American Academy for Cerebral Palsy and Developmental Medicine guidelines, from inception until July 2017, on online databases: Web of Science, PEDro, EBSCO, Medline, Cochrane, Embase and ProQuest...
2018: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/29339580/advantages-of-soft-subdural-implants-for-the-delivery-of-electrochemical-neuromodulation-therapies-to-the-spinal-cord
#11
Marco Capogrosso, Jérôme Gandar, Nathan Greiner, Eduardo Martin Moraud, Nikolaus Wenger, Polina Shkorbatova, Pavel E Мusienko, Ivan Minev, Stephanie P Lacour, Gregoire Courtine
We recently developed soft neural interfaces enabling the delivery of electrical and chemical stimulation to the spinal cord. These stimulations restored locomotion in animal models of paralysis. Soft interfaces can be placed either below or above the dura mater. Theoretically, the subdural location combines many advantages, including increased selectivity of electrical stimulation, lower stimulation thresholds, and targeted chemical stimulation through local drug delivery. However, these advantages have not been documented, nor have their functional impact been studied in-silico or in a relevant animal model of neurological disorders using a multimodal neural interface...
January 17, 2018: Journal of Neural Engineering
https://www.readbyqxmd.com/read/29339206/objective-sleep-measures-in-subacute-stroke-inpatients-associated-with-levels-and-improvements-in-activities-of-daily-living
#12
Ren-Jing Huang, Ching-Hsiang Lai, Shin-Da Lee, Fang-Yu Pai, Shen-Wen Chang, Ai-Hui Chung, Yi-Fang Chang, Hua Ting
OBJECTIVE: To investigate whether objective polysomnographic measures of prevalent sleep problems such as sleep-disordered-breathing (SDB) and insomnia are associated with activities of daily living levels in inpatients at rehabilitation units DESIGN: Retrospective and observational study SETTING: Single rehabilitation center PARTICIPANTS: One hundred twenty-three enrolled subacute stroke inpatients (61.6 ± 13.1 years; 23.8 ± 3.4 kg/m2; 33% female; 90.5 ± 36.7 days post-stroke) underwent a one-night polysomnography study and one-month-long inpatient rehabilitation program...
January 12, 2018: Archives of Physical Medicine and Rehabilitation
https://www.readbyqxmd.com/read/29338466/valbenazine-as-the-first-and-only-approved-treatment-for-adults-with-tardive-dyskinesia
#13
Harini Sarva, Claire Henchcliffe
Valbenazine is a selective VMAT2 inhibitor that the FDA approved in April 2017 for the specific treatment of tardive dyskinesia (TD), a movement disorder commonly caused by dopamine blocking agents. Valbenazine acts to decrease dopamine release, reducing excessive movement found in TD. Areas covered: This drug profile reviews the development of valbenazine and the clinical trials that led to its approval as the first treatment specific to TD. The literature search was performed with the PubMed online database...
January 17, 2018: Expert Review of Clinical Pharmacology
https://www.readbyqxmd.com/read/29337407/insufficient-sleep-syndrome-an-unrecognized-but-important-clinical-entity
#14
Jun Kohyama, Yuki Anzai, Makoto Ono, Ai Kishino, Keita Tamanuki, Kazuma Takada, Kento Inoue, Maho Horiuchi, Yoshiho Hatai
BACKGROUND: In the Tokyo Bay Urayasu Ichikawa Medical Centre, a sleep clinic for adults and children was established in August 2012. As few sleep clinics are available in Japan that are specifically for children, this clinic provides the opportunity to provide data on child patients who have been suffering from sleep problems and who visited the sleep clinic. METHODS: Records of patients who visited the sleep clinic at the Tokyo Bay Urayasu Ichikawa Medical Centre at the age of 20 years or younger on their first visit were retrospectively examined, and their initial and final diagnoses were examined...
January 16, 2018: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/29336129/somatic-tinnitus
#15
REVIEW
Massimo Ralli, Antonio Greco, Fabrizio Cialente, Arianna Di Stadio, Lucia Longo, Andrea Ciofalo, Rosaria Turchetta, Giancarlo Cianfrone, Marco de Vincentiis
Modulation of tinnitus characteristics such as pitch and loudness has been extensively described following movements of the head, neck and limbs, vertical or horizontal eye gaze, pressure on myofascial trigger points, cutaneous stimulation of the hands, electrical stimulation of the median nerve, and transcranial direct current stimulation. Modulation of tinnitus follows complex interactions between auditory and somatosensory afferents and can be favored by underlying somatic disorders. When tinnitus appears to be preceded or strictly linked to a somatic disorder, and therefore related to problems of the musculoskeletal system rather than of the ear, it is defined somatic tinnitus...
December 1, 2017: International Tinnitus Journal
https://www.readbyqxmd.com/read/29335882/clinical-response-to-vim-s-thalamic-stereotactic-radiosurgery-for-essential-tremor-is-associated-with-distinctive-functional-connectivity-patterns
#16
Constantin Tuleasca, Elena Najdenovska, Jean Régis, Tatiana Witjas, Nadine Girard, Jérôme Champoudry, Mohamed Faouzi, Jean-Philippe Thiran, Meritxell Bach Cuadra, Marc Levivier, Dimitri Van De Ville
INTRODUCTION: Essential tremor (ET) is the most common movement disorder. Drug-resistant ET can benefit from standard surgical stereotactic procedures (deep brain stimulation, thalamotomy) or minimally invasive high-intensity focused ultrasound (HIFU) or stereotactic radiosurgical thalamotomy (SRS-T). Resting-state fMRI (rs-fMRI) is a non-invasive imaging method acquired in absence of a task. We examined whether rs-fMRI correlates with tremor score on the treated hand (TSTH) improvement 1 year after SRS-T...
January 15, 2018: Acta Neurochirurgica
https://www.readbyqxmd.com/read/29335879/current-approaches-and-new-developments-in-the-pharmacological-management-of-tourette-syndrome
#17
REVIEW
Julio Quezada, Keith A Coffman
Tourette syndrome (TS) is a neurodevelopmental disorder of unknown etiology characterized by spontaneous, involuntary movements and vocalizations called tics. Once thought to be rare, TS affects 0.3-1% of the population. Tics can cause physical discomfort, emotional distress, social difficulties, and can interfere with education and desired activities. The pharmacologic treatment of TS is particularly challenging, as currently the genetics, neurophysiology, and neuropathology of this disorder are still largely unknown...
January 15, 2018: CNS Drugs
https://www.readbyqxmd.com/read/29335082/-a-comparative-analysis-of-anti-n-methyl-d-aspartate-receptor-encephalitis-with-or-without-abnormal-findings-on-cranial-magnetic-resonance-imaging
#18
Jian-Zhao Zhang, Qian Chen, Ping Zheng, Li-Na Xie, Xiao-Li Yi, Hai-Tao Ren, Jian Yang
OBJECTIVE: To investigate the clinical features of children with anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis with normal or abnormal cranial magnetic resonance imaging (MRI) findings via a comparative analysis. METHODS: A retrospective analysis was performed for the clinical data of 33 children with anti-NMDAR encephalitis. The clinical features and prognosis were compared between the children with normal and abnormal cranial MRI findings. RESULTS: In the 33 children with anti-NMDAR encephalitis, the most common initial symptoms were seizures (61%) and involuntary movement (61%), followed by language disorder (54%), mental and behavioral abnormalities (52%), and disturbance of consciousness (30%)...
January 2018: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29332107/the-sleep-architecture-of-saudi-arabian-patients-with-kleine-levin-syndrome
#19
Saad M Al Shareef, Aljohara S Almeneessier, Omeima Hammad, Richard M Smith, Ahmed S BaHammam
To establish baseline sleep architecture during an acute attack of Kleine-Levin syndrome (KLS) in a cohort of Saudi Arabian KLS patients and compare these characteristics with other published cohorts. Methods: This was a retrospective cohort study of the polysomnographic characteristics of 10 typical symptomatic Saudi Arabian KLS patients attending the University Sleep Disorders Center, King Saud University, Riyadh, Saudi Arabia between 2002 and 2015. Data were captured by nocturnal polysomnography during an acute attack of hypersomnia and compared with other published cohorts identified via a systematic literature search...
January 2018: Saudi Medical Journal
https://www.readbyqxmd.com/read/29332089/gene-therapy-for-parkinson-s-disease
#20
Vivek Sudhakar, R Mark Richardson
Gene therapy is a clinical tool that may eventually provide therapeutic benefit to patients suffering from movement disorders through a few potential mechanisms: direct correction of the pathogenic mechanism, neuroprotection, neurorestoration or symptom control. The therapeutic mechanism is therefore dependent on knowledge of disease pathogenesis and the required temporal and spatial specificities of gene expression. An additional critical challenge is achieving the most complete transduction of the target structure while avoiding leakage into neighboring regions or perivascular spaces...
2018: Progress in Neurological Surgery
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