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https://www.readbyqxmd.com/read/28339400/a-systematic-review-of-the-huntington-disease-like-2-phenotype
#1
David G Anderson, Ruth H Walker, Myles Connor, Jonathan Carr, Russell L Margolis, Amanda Krause
BACKGROUND: Huntington Disease-like 2 (HDL2) is a neurodegenerative disorder similar to Huntington Disease (HD) in its clinical phenotype, genetic characteristics, neuropathology and longitudinal progression. Proposed specific differences include an exclusive African ancestry, lack of eye movement abnormalities, increased Parkinsonism, and acanthocytes in HDL2. OBJECTIVE: The objective was to determine the similarities and differences between HD and HDL2 by establishing the clinical phenotype of HDL2 with the published cases...
March 21, 2017: Journal of Huntington's Disease
https://www.readbyqxmd.com/read/28339122/mortality-risk-in-a-nationwide-cohort-of-individuals-with-tic-disorders-and-with-tourette-syndrome
#2
Sandra M Meier, Søren Dalsgaard, Preben B Mortensen, James F Leckman, Kerstin J Plessen
BACKGROUND: Few studies have investigated mortality risk in individuals with tic disorders. METHODS: We thus measured the risk of premature death in individuals with tic disorders and with Tourette syndrome in a prospective cohort study with 80 million person-years of follow-up. We estimated mortality rate ratios and adjusted for calendar year, age, sex, urbanicity, maternal and paternal age, and psychiatric disorders to compare individuals with and without tic disorders...
March 24, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28338742/brain-mechanisms-for-loss-of-awareness-of-thought-and-movement
#3
Eamonn Walsh, David A Oakley, Peter W Halligan, Mitul A Mehta, Quinton Deeley
Loss or reduction of awareness is common in neuropsychiatric disorders and culturally influenced dissociative phenomena but the underlying brain mechanisms are poorly understood. fMRI was combined with suggestions for automatic writing in 18 healthy highly hypnotically suggestible individuals in a within-subjects design to determine whether clinical alterations in awareness of thought and movement can be experimentally modelled and studied independently of illness. Subjective ratings of control, ownership, and awareness of thought and movement, and fMRI data were collected following suggestions for thought insertion and alien control of writing movement, with and without loss of awareness...
February 17, 2017: Social Cognitive and Affective Neuroscience
https://www.readbyqxmd.com/read/28338076/movement-disorders-comparison-of-cognitive-impairment-in-parkinson-disease-and-essential-tremor
#4
Ian Fyfe
No abstract text is available yet for this article.
March 24, 2017: Nature Reviews. Neurology
https://www.readbyqxmd.com/read/28336349/decisional-capacity-for-advanced-care-directives-in-parkinson-s-disease-with-cognitive-concerns
#5
Muneer Abu Snineh, Richard Camicioli, Janis M Miyasaki
INTRODUCTION: Physician Orders for Life Sustaining Therapies (POLST) or Goals of Care (GOC) are legal documents to guide intensity of interventions (ICU, resuscitation, hospitalization or comfort care) completed by healthcare professionals following counseling of patients or their designated medical decision makers. Capacity (understanding, appreciation, reasoning and expressing a choice) to consent to POLST or GOC has not been determined among Parkinson's disease (PD) patients. We sought to assess GOC PD decisional capacity for those with cognitive complaints but not dementia...
March 8, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28336296/serotonin-and-dopamine-transporter-pet-changes-in-the-premotor-phase-of-lrrk2-parkinsonism-cross-sectional-studies
#6
Daryl J Wile, Pankaj A Agarwal, Michael Schulzer, Edwin Mak, Katherine Dinelle, Elham Shahinfard, Nasim Vafai, Kazuko Hasegawa, Jing Zhang, Jessamyn McKenzie, Nicole Neilson, Audrey Strongosky, Ryan J Uitti, Mark Guttman, Cyrus P Zabetian, Yu-Shin Ding, Mike Adam, Jan Aasly, Zbigniew K Wszolek, Matthew Farrer, Vesna Sossi, A Jon Stoessl
BACKGROUND: People with Parkinson's disease can show premotor neurochemical changes in the dopaminergic and non-dopaminergic systems. Using PET, we assessed whether dopaminergic and serotonin transporter changes are similar in LRRK2 mutation carriers with Parkinson's disease and individuals with sporadic Parkinson's disease, and whether LRRK2 mutation carriers without motor symptoms show PET changes. METHODS: We did two cross-sectional PET studies at the Pacific Parkinson's Research Centre in Vancouver, BC, Canada...
March 20, 2017: Lancet Neurology
https://www.readbyqxmd.com/read/28335467/through-the-kinesthetic-lens-observation-of-social-attunement-in-autism-spectrum-disorders
#7
Rosemarie Samaritter, Helen Payne
This paper will present a movement-informed perspective to social attunement in Autism Spectrum Disorders (ASD). BACKGROUND: Dance movement therapy (DMT) is a psychotherapeutic intervention that is used with participants with ASD in various settings. Regular clinical outcome monitoring in an outpatient setting in the Netherlands had shown positive effects on social attunement capacities in young people with ASD. However, a systematic study of the development of social attunement movement behaviors of participants with ASD throughout a DMT intervention was not yet available...
March 18, 2017: Behavioral Sciences
https://www.readbyqxmd.com/read/28334938/clinical-and-genetic-characterization-of-leukoencephalopathies-in-adults
#8
David S Lynch, Anderson Rodrigues Brandão de Paiva, Wei Jia Zhang, Enrico Bugiardini, Fernando Freua, Leandro Tavares Lucato, Lucia Inês Macedo-Souza, Rahul Lakshmanan, Justin A Kinsella, Aine Merwick, Alexander M Rossor, Nin Bajaj, Brian Herron, Paul McMonagle, Patrick J Morrison, Deborah Hughes, Alan Pittman, Matilde Laurà, Mary M Reilly, Jason D Warren, Catherine J Mummery, Jonathan M Schott, Matthew Adams, Nick C Fox, Elaine Murphy, Indran Davagnanam, Fernando Kok, Jeremy Chataway, Henry Houlden
Leukodystrophies and genetic leukoencephalopathies are a rare group of disorders leading to progressive degeneration of cerebral white matter. They are associated with a spectrum of clinical phenotypes dominated by dementia, psychiatric changes, movement disorders and upper motor neuron signs. Mutations in at least 60 genes can lead to leukoencephalopathy with often overlapping clinical and radiological presentations. For these reasons, patients with genetic leukoencephalopathies often endure a long diagnostic odyssey before receiving a definitive diagnosis or may receive no diagnosis at all...
March 2, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28333903/-evaluation-of-oro-cecal-transit-time-in-patients-with-irritable-bowel-syndrome-with-cereal-products-intolerance
#9
Aleksandra Błońska, Paulina Konrad, Jan Chojnacki, Cezary Chojnacki
The main symptoms of irritable bowel syndrome (IBS) include abnormal frequency of bowel movements. On this basis, three main clinical types of the disease have been distinguished, i.e.: constipation (IBSC), diarrhea (IBS-D) and mixed-type (IBS-M) in accordance with the Rome III criteria. These disorders mainly affect the colon, but symptoms related to upper gastrointestinal tract are also often observed. AIM: The aim of the study was to assess the oro-caecal transit time in patients with irritable bowel syndrome with IgG-dependent hypersensitivity to cereal products...
March 21, 2017: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/28333613/collaborative-management-of-neurocognitive-disorders-in-primary-care-explorations-of-an-attempt-at-culture-change
#10
Lewis Mehl-Madrona, Barbara Mainguy
INTRODUCTION: Minor neurocognitive disorder (MiND; previously mild cognitive impairment) is a transitional zone between normal cognitive function and early stages of major neurocognitive disorder (previously called dementia). Of people with MiND, 5% to 10% progress to major neurocognitive disorder. Simple interventions such as memory activities, balance exercises, and anti-inflammatory diets have been shown to improve cognitive ability. Also, education and support in group settings have proved beneficial for patients with MiND...
2017: Permanente Journal
https://www.readbyqxmd.com/read/28332767/bcap31-associated-encephalopathy-and-complex-movement-disorder-mimicking-mitochondrial-encephalopathy
#11
Saleh Albanyan, Amal Al Teneiji, Nasim Monfared, Saadet Mercimek-Mahmutoglu
BCAP31, encoded by BCAP31, is involved in the export of transmembrane proteins from the endoplasmic reticulum. Pathogenic variants in BCAP31 results in global developmental delay, dystonia, deafness and dysmorphic features in males, called deafness, dystonia, and cerebral hypomyelination (DDCH) syndrome. We report a new patient with BCAP3-associated encephalopathy, DDCH syndrome, sensorineural hearing loss, generalized dystonia, and choreoathetosis. This 3.5-year-old boy had microcephaly and failure to thrive within the first 3 months of life...
March 23, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28332121/impairment-in-emotion-perception-from-body-movements-in-individuals-with-bipolar-i-and-bipolar-ii-disorder-is-associated-with-functional-capacity
#12
Anja Vaskinn, Trine Vik Lagerberg, Thomas D Bjella, Carmen Simonsen, Ole A Andreassen, Torill Ueland, Kjetil Sundet
BACKGROUND: Individuals with bipolar disorder present with moderate impairments in social cognition during the euthymic state. The impairment extends to theory of mind and to the perception of emotion in faces and voices, but it is unclear if emotion perception from body movements is affected. The main aim of this study was to examine if participants with bipolar disorder perform worse than healthy control participants on a task using point-light displays of human full figures moving in a manner indicative of a basic emotion (angry, happy, sad, fearful, neutral/no emotion)...
December 2017: International Journal of Bipolar Disorders
https://www.readbyqxmd.com/read/28331860/quetiapine-misuse-and-abuse-is-it-an-atypical-paradigm-of-drug-seeking-behavior
#13
REVIEW
Sean Kim, Gayoung Lee, Eric Kim, Hyejin Jung, Jongwha Chang
Recent case reports in medical literatures suggest that more and more second-generation atypical antipsychotics (AAs) have been prescribed for off-label use; quetiapine (Brand name: Seroquel(®)) showed increase in its trend for off-label use. Little is known about the reasons behind this trend, although historical sedative and hypnotic prescription patterns suggest that despite relatively superior safety profiles of quetiapine (especially for movement disorders), it may be used for treating substance abuse disorder...
January 2017: Journal of Research in Pharmacy Practice
https://www.readbyqxmd.com/read/28329332/excessive-daytime-sleepiness-predicts-neurodegeneration-in-idiopathic-rem-sleep-behavior-disorder
#14
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/28329117/muscle-activity-during-sleep-in-human-subjects-rats-and-mice-towards-translational-models-of-rem-sleep-without-atonia
#15
Alessandro Silvani, Raffaele Ferri, Viviana Lo Martire, Stefano Bastianini, Chiara Berteotti, Agnese Salvadè, Giuseppe Plazzi, Marco Zucconi, Luigi Ferini-Strambi, Claudio L Bassetti, Mauro Manconi, Giovanna Zoccoli
Study Objectives: rapid-eye-movement (REM) sleep without atonia (RSWA) is a marker of REM sleep behavior disorder (RBD) and is common in narcolepsy. Available techniques for electromyogram (EMG) analysis are species-specific, limiting translational research on RSWA. We developed an automated technique based on distributions of normalized EMG values (DNE) to overcome this limitation. With DNE, we tested whether the control of neck and tibialis anterior (TA) muscles during sleep in wild-type rats and mice validly models the control of submentalis (chin) and TA muscles in healthy humans...
February 22, 2017: Sleep
https://www.readbyqxmd.com/read/28327899/thirty-day-readmission-rates-following-deep-brain-stimulation-surgery
#16
Ashwin G Ramayya, Kalil G Abdullah, Arka N Mallela, John T Pierce, Jayesh Thawani, Dmitry Petrov, Gordon H Baltuch
BACKGROUND: Deep brain stimulation (DBS) has emerged as a safe and efficacious surgical intervention for several movement disorders; however, the 30-day all-cause readmission rate associated with this procedure has not previously been documented. OBJECT: To perform a retrospective cohort study to estimate the 30-day all-cause readmission rate associated with DBS. METHODS: We reviewed medical records of patients over the age of 18 who underwent DBS surgery at Pennsylvania Hospital of the University of Pennsylvania between 2009 and 2014...
March 15, 2017: Neurosurgery
https://www.readbyqxmd.com/read/28326165/neurochemical-and-motor-changes-in-mice-with-combined-mutations-linked-to-parkinson-s-disease
#17
Xiang Bai, Margaret Chia-Ying Wey, Paul Anthony Martinez, Chao Shi, Elizabeth Fernandez, Randy Strong
Considerable evidence suggests that oxidative stress plays a role in the pathogenesis of Parkinson's disease (PD), the most prevalent neurodegenerative movement disorder. Reduced expression of aldehyde dehydrogenase-1 (ALDH1) and glutathione peroxidase-1 (GPX1), enzymes that function to detoxify aldehydes and hydroxyl radicals, respectively, has been reported in the substantia nigra of patients who died with PD. To determine whether deficiency in these two genes contributes to the pathogenesis of PD, mice were generated with homozygous null mutations of both Aldh1a1 (the murine homolog of ALDH1) and Gpx1 genes [knockout (KO) mice]...
2017: Pathobiology of Aging & Age related Diseases
https://www.readbyqxmd.com/read/28325617/human-genetics-and-sleep-behavior
#18
REVIEW
Guangsen Shi, David Wu, Louis J Ptáček, Ying-Hui Fu
Why we sleep remains one of the greatest mysteries in science. In the past few years, great advances have been made to better understand this phenomenon. Human genetics has contributed significantly to this movement, as many features of sleep have been found to be heritable. Discoveries about these genetic variations that affect human sleep will aid us in understanding the underlying mechanism of sleep. Here we summarize recent discoveries about the genetic variations affecting the timing of sleep, duration of sleep and EEG patterns...
March 15, 2017: Current Opinion in Neurobiology
https://www.readbyqxmd.com/read/28325582/a-novel-framework-for-understanding-reduced-awareness-of-dyskinesias-in-parkinson-s-disease
#19
Sara Palermo, Leonardo Lopiano, Maurizio Zibetti, Rosalba Rosato, Daniela Leotta, Martina Amanzio
BACKGROUND: Although dyskinesias-reduced-self-awareness (DRSA) in Parkinson's disease (PD) is related to deficit in metacognition, other factors, such as "Theory of Mind" (ToM), could operate. METHODS: Forty-one PD patients were assessed using the Global Awareness of Movement Disorders (GAM) and the Dyskinesias Subtracted-Index (DS-I). To study whether GAM and DS-I scores could be influenced by second-type ToM or Reading the Mind in the Eyes (RME) tasks, we conducted two multiple logistic regression analyses...
March 16, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28325153/ultra-micronized-palmitoylethanolamide-an-efficacious-adjuvant-therapy-for-parkinson-s-disease
#20
Stefania Brotini, Carlo Schievano, Leonello Guidi
BACKGROUND: Parkinson's disease (PD) is the subject of intense efforts to develop strategies that slow down or stop disease progression and disability. Substantial evidence points to a prominent role for neuroinflammation in the underlying dopaminergic cell death. Ultramicronized palmitoylethanolamide (um-PEA) is well-known for its ability to promote the resolution of neuroinflammation and exert neuroprotection. This study was designed to assess the efficacy of um-PEA as adjuvant therapy in patients with advanced PD...
March 21, 2017: CNS & Neurological Disorders Drug Targets
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