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Functional movement disorders

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https://www.readbyqxmd.com/read/28333613/collaborative-management-of-neurocognitive-disorders-in-primary-care-explorations-of-an-attempt-at-culture-change
#1
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
#2
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
#3
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/28326165/neurochemical-and-motor-changes-in-mice-with-combined-mutations-linked-to-parkinson-s-disease
#4
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/28325582/a-novel-framework-for-understanding-reduced-awareness-of-dyskinesias-in-parkinson-s-disease
#5
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/28320196/extended-timed-up-and-go-assessment-as-a-clinical-indicator-of-cognitive-state-in-parkinson-s-disease
#6
Tess Evans, Alexa Jefferson, Michelle Byrnes, Sue Walters, Soumya Ghosh, Frank L Mastaglia, Brian Power, Ryan S Anderton
OBJECTIVE: To evaluate a modified extended Timed Up and Go (extended-TUG) assessment against a panel of validated clinical assessments, as an indicator of Parkinson's disease (PD) severity and cognitive impairment. METHODS: Eighty-seven participants with idiopathic PD were sequentially recruited from a Movement Disorders Clinic. An extended-TUG assessment was employed which required participants to stand from a seated position, walk in a straight line for 7m, turn 180° and then return to the start, in a seated position...
April 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28319282/stereotactic-radiosurgery-for-essential-tremor-retrospective-analysis-of-a-19-year-experience
#7
Ajay Niranjan, Sudesh S Raju, Ali Kooshkabadi, Edward Monaco, John C Flickinger, L Dade Lunsford
BACKGROUND: Essential Tremor (ET) is a common movement disorder that can be disabling. Initial treatment is in the form of medical therapies. Patients with medically refractory ET seek surgical intervention which include radiofrequency thalamotomy, deep brain stimulation, and radiosurgical thalamotomy. Radiosurgical thalamotomy is a minimally invasive surgical option which is especially valuable for elderly and high surgical risk patients. OBJECTIVE: The purpose of this study was to retrospectively analyze the outcomes of stereotactic radiosurgery for patients suffering from medically refractory essential tremor...
March 20, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28317439/patterns-of-cervical-and-masticatory-impairment-in-subgroups-of-people-with-temporomandibular-disorders-an-explorative-approach-based-on-factor-analysis
#8
Nikolaus Ballenberger, Harry von Piekartz, Mira Danzeisen, Toby Hall
OBJECTIVES: To identify clinical patterns of impairment affecting the cervical spine and masticatory systems in different subcategories of temporomandibular disorder (TMD) by an explorative data-driven approach. METHODS: For this observational study, 144 subjects were subdivided according to Research Diagnostic Criteria for TMDs into: Healthy controls, temporomandibular joint (TMJ) signs without symptoms, TMJ affected, temporomandibular muscles affected, or TMJ and muscles affected...
March 20, 2017: Cranio: the Journal of Craniomandibular Practice
https://www.readbyqxmd.com/read/28303385/after-effects-of-cerebellar-continuous-theta-burst-stimulation-on-reflexive-saccades-and-smooth-pursuit-in-humans
#9
Silvia Colnaghi, P Colagiorgio, S Ramat, E D'Angelo, G Koch, M Versino
The use of cerebellar repetitive transcranial magnetic stimulation has been attempted for perturbing reflexive and voluntary eye movements, but discrepancies are seen between the results of distinct studies possibly due to the different stimulation sites, intensities, and paradigms. We describe the after effects of 20 and 40 s continuous Theta Burst Stimulation (cTBS) as compared to sham stimulation, applied over the lateral cerebellar vermis and paravermis on Reflexive Saccades (RS) and Smooth Pursuit (SP) eye movements, recorded in the 30 min following stimulation...
March 16, 2017: Cerebellum
https://www.readbyqxmd.com/read/28302064/a-sibship-with-duplication-of-xq28-inherited-from-the-mother-genomic-characterization-and-clinical-outcomes
#10
Dong Keon Yon, Ji Eun Park, Seung Jun Kim, Sung Han Shim, Kyu Young Chae
BACKGROUND: Loss-of-function mutations in methyl-CpG-binding protein 2 (MECP2; MIM *300005) results in the Rett syndrome, whereas gain-of-function mutations are associated with the MECP2 duplication syndrome. METHODS: We did research on a family with two brothers showing Xq28 duplication syndrome using various molecular cytogenetic techniques such as multiplex ligation-dependent probe amplification and array-based genomic hybridization. RESULTS: The duplicated region had several genes including MECP2 and interleukin-1 receptor associated kinase 1 (IRAK1; MIM *300283)...
March 17, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28300412/reconciling-differences-between-lipid-transfer-in-free-standing-and-solid-supported-membranes-a-time-resolved-small-angle-neutron-scattering-study
#11
Benny Wah, Jeffrey Michael Breidigan, Joseph Adams, Piotr Horbal, Sumit Garg, Lionel Porcar, Ursula Perez-Salas
Maintaining compositional lipid gradients across membranes in animal cells is essential to biological function, but what is the energetic cost to maintain these differences? It has long been recognized that studying the passive movement of lipids in membranes can provide insight into this toll. Unfortunately the reported values of inter, and particularly, intra- lipid transport rates of lipids in membranes show significant differences. To overcome this difficulty, biases introduced by experimental approaches have to be identified...
March 16, 2017: Langmuir: the ACS Journal of Surfaces and Colloids
https://www.readbyqxmd.com/read/28298626/gain-of-function-mutation-p-arg225cys-in-scn11a-causes-familial-episodic-pain-and-contributes-to-essential-tremor
#12
Xue-Rong Leng, Xiao-Hong Qi, Yong-Tao Zhou, Yu-Ping Wang
Familial episodic pain is a rare autosomal-dominant disorder characterized by recurrent attacks of pain. The pathogenesis of familial episodic pain is not very clear so far. Essential tremor is the most common movement disorder, but the identification of essential tremor genes has remained elusive. We studied a four-generation Chinese family with early-onset familial episodic pain and adult onset familial essential tremor. All essential tremor diagnoses were confirmed based on a review of the questionnaires, videotaped neurological examinations and was then reconfirmed by a senior neurologist specializing in movement disorders using published criteria...
March 16, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28286248/cell-migration-in-schizophrenia-patient-derived-cells-do-not-regulate-motility-in-response-to-extracellular-matrix
#13
Jing Yang Tee, Ratneswary Sutharsan, Yongjun Fan, Alan Mackay-Sim
Schizophrenia is a highly heritable psychiatric disorder linked to a large number of risk genes. The function of these genes in disease etiology is not fully understood but pathway analyses of genomic data suggest developmental dysregulation of cellular processes such as neuronal migration and axon guidance. Previous studies of patient-derived olfactory cells show them to be more motile than control-derived cells when grown on a fibronectin substrate, motility that is dependent on focal adhesion kinase signaling...
March 9, 2017: Molecular and Cellular Neurosciences
https://www.readbyqxmd.com/read/28285213/remote-modulation-of-network-excitability-during-deep-brain-stimulation-for-epilepsy
#14
REVIEW
Dong-Hong Li, Xiao-Feng Yang
Deep brain stimulation (DBS) has become a well-accepted medical therapy in the treatment of movement disorders such as Parkinson's disease, and is currently under investigation as a treatment for other disorders, including epilepsy. Although DBS is widely used, its therapeutic mechanisms remain poorly understood. Recent research shows that seizures are network-level phenomena, but the incomplete knowledge of neural circuit function has left a gap in our understanding of how disruption at a molecular or cellular level generates epilepsy...
March 4, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28284903/ocular-and-visual-disorders-in-parkinson-s-disease-common-but-frequently-overlooked
#15
REVIEW
Merel S Ekker, Sabine Janssen, Klaus Seppi, Werner Poewe, Nienke M de Vries, Thomas Theelen, Jorik Nonnekes, Bastiaan R Bloem
Patients with Parkinson's disease (PD) often compensate for their motor deficits by guiding their movements visually. A wide range of ocular and visual disorders threatens the patients' ability to benefit optimally from visual feedback. These disorders are common in patients with PD, yet they have received little attention in both research and clinical practice, leading to unnecessary - but possibly treatable - disability. Based on a literature search covering 50 years, we review the range of ocular and visual disorders in patients with PD, and classify these according to anatomical structures of the visual pathway...
February 21, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28284390/creatine-defects-and-central-nervous-system
#16
Carmen Fons, Jaume Campistol
Creatine deficiency syndromes are a group of disorders of creatine (Cr) synthesis and transport characterized by intellectual disability, language delay, epilepsy, autism spectrum disorder, and movement disorders secondary to decrease of Cr concentration in the brain. Synthesis defects are treatable, therefore an early diagnosis and treatment is essential. The aim of this article is to review the Cr metabolism and function in the central nervous system. We describe the optimal diagnostic protocol in Cr deficiency syndromes based on biochemical methods, neuroradiological (1H-MRS), and molecular analysis...
November 2016: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28279852/effectiveness-of-surgical-and-non-surgical-management-of-crouch-gait-in-cerebral-palsy-a-systematic-review
#17
REVIEW
Scott A Galey, Zachary F Lerner, Thomas C Bulea, Seymour Zimbler, Diane L Damiano
BACKGROUND: Cerebral palsy (CP) is a prevalent group of neuromotor disorders caused by early injury to brain regions or pathways that control movement. Patients with CP exhibit a range of functional motor disabilities and pathologic gait patterns. Crouch gait, characterized by increased knee flexion throughout stance, is a common gait pattern in CP that increases energy costs of walking and contributes to ambulatory decline. Our aim was to perform the first systematic literature review on the effectiveness of interventions utilized to ameliorate crouch gait in CP...
February 24, 2017: Gait & Posture
https://www.readbyqxmd.com/read/28279054/-physical-therapy-for-temporomandibular-joint-anterior-disc-displacement-without-reduction
#18
B Cai
Temporomandibular joint (TMJ) anterior disc displacement without reduction (ADDwoR) is a common type of temporomandibular joint disorders. Most patients experience limited mouth opening and joint pain at the same time. The standpoint of physical therapy is the function of the joint instead of the displaced disc. The treatment aims to make symptoms disappeared and joint function regained through 3M techniques, including modality, manual and movement. For ADDwoR patients with limited mouth opening within 2 month, manual therapy may reposition disc and the following splint and movement therapy can maintain disc-condyle relationship...
March 9, 2017: Zhonghua Kou Qiang Yi Xue za Zhi, Zhonghua Kouqiang Yixue Zazhi, Chinese Journal of Stomatology
https://www.readbyqxmd.com/read/28277976/issues-in-consultation-for-treatments-with-distressed-activated-abuser-protector-self-states-in-dissociative-identity-disorder
#19
Richard A Chefetz
The identified "problem self-state" in a dissociative disorder consultation is like the identified patient in a family therapy; the one who is identified may have an assigned role to be blamed which serves the function of deflecting the activities of painful self-states in other family members. In consultation, the "family" includes the therapist in addition to the patient. When the state identified as a problem self-state is an abuser/protector self-state, complications often involve the profound nature of transference-countertransference enactments between patient and therapist, the delusion of separateness, chronic and acute threats of suicide, negative therapeutic reactions, and the evocation of intense negativity...
February 16, 2017: Journal of Trauma & Dissociation
https://www.readbyqxmd.com/read/28276860/a-parsimonious-scoring-and-normative-calculator-for-the-parkinson-s-disease-mild-cognitive-impairment-battery
#20
Ondrej Bezdicek, Zdenek Sulc, Tomas Nikolai, Hana Stepankova, Miloslav Kopecek, Robert Jech, Evžen Růžička
OBJECTIVE: The aim of the present study was to provide a regression-based calculator that takes premorbid functioning into account to detect subtle cognitive decline, as is often present in pre-dementia states, especially mild cognitive impairment in Parkinson's disease (PD-MCI). METHOD: We used demographic adjustments based on sex, age, and education of 699 normative participants that fulfilled exclusion criteria for ascertaining the diagnostic accuracy of the Movement Disorders Society PD-MCI battery at Level II...
February 28, 2017: Clinical Neuropsychologist
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