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High level gait disorder

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https://www.readbyqxmd.com/read/29962256/novel-compound-heterozygous-pank2-gene-mutations-in-a-chinese-patient-with-atypical-pantothenate-kinase-associated-neurodegeneration
#1
Yuan Cheng, Yu-Tao Liu, Zhi-Hua Yang, Jing Yang, Chang-He Shi, Yu-Ming Xu
Pantothenate-kinase-associated neurodegeneration (PKAN), which is characterized by iron accumulation in the basal ganglia, is a rare autosomal recessive neurodegenerative disorder caused by pantothenate kinase (PANK2) gene mutations. The PANK2 gene is located on chromosome 20p13 and encodes pantothenate kinase. Herein, we identified one patient with PKAN who had mutations in the PANK2 gene. We performed clinical and radiographic investigations, and diagnosed this disease at the clinical and genetic levels. It is worth mentioning that the patient displayed an eye-of-the-tiger sign...
July 2, 2018: International Journal of Neuroscience
https://www.readbyqxmd.com/read/29703169/case-series-of-creutzfeldt-jakob-disease-in-a-third-level-hospital-in-quito
#2
Germaine Eleanor Torres Herrán, Andrés Damián Ortega Herrera, Braulio Martinez Burbano, Marcos Serrano-Dueñas, María Angélica Ortiz Yepez, Raúl Alberto Barrera Madera, Luis Alfredo Masabanda Campaña, Guillermo David Baño Jiménez, Denny Maritza Santos Saltos, Edgar Patricio Correa Díaz
BACKGROUND: Creutzfeldt-Jakob disease is a rare and fatal neurodegenerative disorder that affects mammals and humans. The prevalence of this disease in the United States is 0.5 to 1 per million inhabitants. So far in Ecuador, we do not know what the prevalence or incidence is, and only one case report has been written. CASE PRESENTATION: We present a case series of Creutzfeldt-Jakob disease in a third-level hospital in Quito. The average age of symptom onset in our patients was 58...
April 27, 2018: BMC Neurology
https://www.readbyqxmd.com/read/29678964/technology-enabled-examinations-of-cardiac-rhythm-optic-nerve-oral-health-tympanic-membrane-gait-and-coordination-evaluated-jointly-with-routine-health-screenings-an-observational-study-at-the-2015-kumbh-mela-in-india
#3
Pratik Shah, Gregory Yauney, Otkrist Gupta, Vincent Patalano Ii, Mrinal Mohit, Rikin Merchant, S V Subramanian
OBJECTIVES: Technology-enabled non-invasive diagnostic screening (TES) using smartphones and other point-of-care medical devices was evaluated in conjunction with conventional routine health screenings for the primary care screening of patients. DESIGN: Dental conditions, cardiac ECG arrhythmias, tympanic membrane disorders, blood oxygenation levels, optic nerve disorders and neurological fitness were evaluated using FDA-approved advanced smartphone powered technologies...
April 20, 2018: BMJ Open
https://www.readbyqxmd.com/read/29600206/a-unique-case-of-cervical-myelopathy-in-an-adult-patient-with-scheie-syndrome
#4
Farzam Vazifehdan, Vasilios G Karantzoulis, Robert Ebner, Vasilios G Igoumenou
Introduction: Scheie syndrome is an extremely rare systematic disease that represents the most attenuated form of mucopolysaccharidosis Type I disorder. Although associated with a variety of manifestations, Scheie syndrome leading to the development of cervical myelopathyis yet to be reported. Our purpose was to present a unique case of a Scheie syndrome patient, who underwent surgery due to cervical myelopathy, and to discuss the clinical and imaging findings, as well as the challenges and outcomes of surgical treatment...
November 2017: Journal of Orthopaedic Case Reports
https://www.readbyqxmd.com/read/29572571/exploring-the-relationship-between-motor-impairment-vascular-burden-and-cognition-in-parkinson-s-disease
#5
Tanja Stojkovic, Elka Stefanova, Ivan Soldatovic, Vladana Markovic, Iva Stankovic, Igor Petrovic, Federica Agosta, Sebastiano Galantucci, Massimo Filippi, Vladimir Kostic
OBJECTIVE: To determine frequency and type of cognitive disorders in cross-sectional analysis of a Parkinson's disease (PD) cohort, and explore its relations to motor symptoms, modifiable vascular risk factors and white matter lesions (WML) volume. METHODS: In a group of 133 PD patients, mild cognitive impairment (PD-MCI) and dementia (PDD) were diagnosed according to Movement Disorders Society Task Force criteria (level 2 for PD-MCI). Detailed motor measurements were applied, including rigidity, axial, bradykinesia, tremor and postural instability gait disorders (PIGD) scores...
June 2018: Journal of Neurology
https://www.readbyqxmd.com/read/29477800/development-of-a-new-screening-tool-for-neuromotor-development-in-children-aged-two-the-neuromotor-5-min-exam-2-year-old-version-n5e2
#6
Sayaka Aoki, Keiji Hashimoto, Hidetoshi Mezawa, Yuhei Hatakenaka, Kahoko Yasumitsu-Lovell, Narufumi Suganuma, Yukihiro Ohya, Philip Wilson, Elisabeth Fernell, Yoko Kamio, Christopher Gillberg
OBJECTIVE: As a new screening tool for neuromotor development in children aged two, we developed the Neuromotor 5 min Exam 2-year-old version (N5E2), which can be easily administered by pediatricians or primary care physicians. In this study, as an initial attempt to examine the utility of the N5E2, the inter-rater reliability on scoring for the individual items in this scale was assessed. METHODS: The participants of the study were 29 children (aged 1-5 years, mean age = 2...
June 2018: Brain & Development
https://www.readbyqxmd.com/read/29220541/yoga-for-stroke-rehabilitation
#7
REVIEW
Maggie Lawrence, Francisco T Celestino Junior, Hemilianna Hs Matozinho, Lindsay Govan, Jo Booth, Jane Beecher
BACKGROUND: Stroke is a major health issue and cause of long-term disability and has a major emotional and socioeconomic impact. There is a need to explore options for long-term sustainable interventions that support stroke survivors to engage in meaningful activities to address life challenges after stroke. Rehabilitation focuses on recovery of function and cognition to the maximum level achievable, and may include a wide range of complementary strategies including yoga.Yoga is a mind-body practice that originated in India, and which has become increasingly widespread in the Western world...
December 8, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29128929/freezing-of-gait-in-parkinson-s-disease-gray-and-white-matter-abnormalities
#8
Sara Pietracupa, Antonio Suppa, Neeraj Upadhyay, Costanza Giannì, Giovanni Grillea, Giorgio Leodori, Nicola Modugno, Francesca Di Biasio, Alessandro Zampogna, Claudio Colonnese, Alfredo Berardelli, Patrizia Pantano
Freezing of gait (FOG) is a disabling disorder that often affects Parkinson's disease (PD) patients in advanced stages of the disease. To study structural gray matter (GM) and white matter (WM) changes in PD patients with and without FOG, twenty-one PD patients with FOG (PD-FOG), 16 PD patients without FOG (PD-nFOG) and 19 healthy subjects (HS) underwent a standardized MRI protocol. For the gray matter evaluation, cortical volume (CV), cortical thickness (CTh), and surface area (SA) were analyzed using the FreeSurfer pipeline...
January 2018: Journal of Neurology
https://www.readbyqxmd.com/read/29126212/hereditary-spastic-paraplegia-type-5-natural-history-biomarkers-and-a-randomized-controlled-trial
#9
RANDOMIZED CONTROLLED TRIAL
Ludger Schöls, Tim W Rattay, Peter Martus, Christoph Meisner, Jonathan Baets, Imma Fischer, Christine Jägle, Matthew J Fraidakis, Andrea Martinuzzi, Jonas Alex Saute, Marina Scarlato, Antonella Antenora, Claudia Stendel, Philip Höflinger, Charles Marques Lourenco, Lisa Abreu, Katrien Smets, Martin Paucar, Tine Deconinck, Dana M Bis, Sarah Wiethoff, Peter Bauer, Alessia Arnoldi, Wilson Marques, Laura Bannach Jardim, Stefan Hauser, Chiara Criscuolo, Alessandro Filla, Stephan Züchner, Maria Teresa Bassi, Thomas Klopstock, Peter De Jonghe, Ingemar Björkhem, Rebecca Schüle
Spastic paraplegia type 5 (SPG5) is a rare subtype of hereditary spastic paraplegia, a highly heterogeneous group of neurodegenerative disorders defined by progressive neurodegeneration of the corticospinal tract motor neurons. SPG5 is caused by recessive mutations in the gene CYP7B1 encoding oxysterol-7α-hydroxylase. This enzyme is involved in the degradation of cholesterol into primary bile acids. CYP7B1 deficiency has been shown to lead to accumulation of neurotoxic oxysterols. In this multicentre study, we have performed detailed clinical and biochemical analysis in 34 genetically confirmed SPG5 cases from 28 families, studied dose-dependent neurotoxicity of oxysterols in human cortical neurons and performed a randomized placebo-controlled double blind interventional trial targeting oxysterol accumulation in serum of SPG5 patients...
December 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28358829/lower-levels-of-uric-acid-and-striatal-dopamine-in-non-tremor-dominant-parkinson-s-disease-subtype
#10
Ismael Huertas, Silvia Jesús, José Antonio Lojo, Francisco Javier García-Gómez, María Teresa Cáceres-Redondo, Juan Manuel Oropesa-Ruiz, Fátima Carrillo, Laura Vargas-Gonzalez, Juan Francisco Martín Rodríguez, Pilar Gómez-Garre, David García-Solís, Pablo Mir
Parkinson's disease (PD) patients who present with tremor and maintain a predominance of tremor have a better prognosis. Similarly, PD patients with high levels of uric acid (UA), a natural neuroprotectant, have also a better disease course. Our aim was to investigate whether PD motor subtypes differ in their levels of UA, and if these differences correlate with the degree of dopamine transporter (DAT) availability. We included 75 PD patients from whom we collected information about their motor symptoms, DAT imaging and UA concentration levels...
2017: PloS One
https://www.readbyqxmd.com/read/28173151/exclusive-expression-of-mecp2-in-the-nervous-system-distinguishes-between-brain-and-peripheral-rett-syndrome-like-phenotypes
#11
Paul D Ross, Jacky Guy, Jim Selfridge, Bushra Kamal, Noha Bahey, K Elizabeth Tanner, Thomas H Gillingwater, Ross A Jones, Christopher M Loughrey, Charlotte S McCarroll, Mark E S Bailey, Adrian Bird, Stuart Cobb
Rett syndrome (RTT) is a severe genetic disorder resulting from mutations in the X-linked MECP2 gene. MeCP2 protein is highly expressed in the nervous system and deficiency in the mouse central nervous system alone recapitulates many features of the disorder. This suggests that RTT is primarily a neurological disorder, although the protein is reportedly widely expressed throughout the body. To determine whether aspects of the RTT phenotype that originate in non-neuronal tissues might have been overlooked, we generated mice in which Mecp2 remains at near normal levels in the nervous system, but is severely depleted elsewhere...
October 15, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/28063088/mosaicism-for-a-pathogenic-mfn2-mutation-causes-minimal-clinical-features-of-cmt2a-in-the-parent-of-a-severely-affected-child
#12
Katherine Schon, Olivera Spasic-Boskovic, Kim Brugger, Tracey D Graves, Stephen Abbs, Soo-Mi Park, Gautam Ambegaonkar, Ruth Armstrong
Charcot-Marie-Tooth disease (CMT) refers to a genetically heterogeneous group of disorders which cause a peripheral motor and sensory neuropathy. The overall prevalence is 1 in 2500 individuals. Mutations in the MFN2 gene are the commonest cause for the axonal (CMT2) type. We describe a Caucasian 5-year old girl affected by CMT2A since the age of 2 years. She presented with unsteady gait, in-turning of the feet and progressive foot deformities. Nerve conduction studies suggested an axonal neuropathy and molecular testing identified a previously reported pathogenic variant c...
January 2017: Neurogenetics
https://www.readbyqxmd.com/read/27770496/-frank-presentations-as-a-novel-research-construct-and-element-of-diagnostic-decision-making-in-autism-spectrum-disorder
#13
Ashley de Marchena, Judith Miller
Many individuals with ASD have a distinctive behavioral presentation that is recognizable within moments, a phenomenon we call "frank" ASD. This phenomenon has been discussed informally for decades, perhaps as "classic" ASD; however, there is no unitary "classic" presentation, and classic autism does not seem to correspond to level of functioning. Thus, neither "frank" nor "classic" autism has been delineated or studied as a research construct. To initiate the empirical study of frank ASD, we surveyed 151 clinicians, from a range of disciplines that diagnose ASD, about this phenomenon...
April 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/27695403/novel-methods-to-enhance-precision-and-reliability-in-muscle-synergy-identification-during-walking
#14
Yushin Kim, Thomas C Bulea, Diane L Damiano
Muscle synergies are hypothesized to reflect modular control of muscle groups via descending commands sent through multiple neural pathways. Recently, the number of synergies has been reported as a functionally relevant indicator of motor control complexity in individuals with neurological movement disorders. Yet the number of synergies extracted during a given activity, e.g., gait, varies within and across studies, even for unimpaired individuals. With no standardized methods for precise determination, this variability remains unexplained making comparisons across studies and cohorts difficult...
2016: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/27685773/continuous-mptp-intoxication-in-the-g%C3%A3-ttingen-minipig-results-in-chronic-parkinsonian-deficits
#15
Mette Slot Nielsen, Andreas Nørgaard Glud, Arne Møller, Poul Mogensen, Dirk Bender, Jens Christian Sørensen, Doris Doudet, Carsten Reidies Bjarkam
Parkinson's disease (PD) is a common neurodegenerative disorder, resulting from progressive loss of dopaminergic neurons in the substantia nigra pars compacta (SNc). Neuroprotective therapies in PD are still not available, perhaps because animal models do not imitate the chronic and progressive nature of the clinical state of PD. To address this, we performed a feasibility study aimed at establishing a chronic non-primate large animal PD model in Göttingen minipigs based on continuous infusion of the neurotoxin 1-methyl-4-phenyl‑1,2,3,6-tetrahydropyridine (MPTP)...
2016: Acta Neurobiologiae Experimentalis
https://www.readbyqxmd.com/read/27676748/locomotor-aspects-in-the-hereditary-spastic-paraplegia-spatio-temporal-and-electromygraphic-analyzes-in-a-prospective-cohort-of-twelve-patients
#16
Jean-Philippe Ehny, Yoshimasa Sagawa, Laurent Tatu, Ludivine Chamard, Bernard Parratte, Pierre Decavel
OBJECTIVE: Hereditary spastic paraplegia (HSP) designates a rare genetic disorder characterized by the existence of a pyramidal syndrome and/or paresis of the lower limbs, resulting in locomotor disorders. The objective of this study was to investigate the HSP patients walking characteristics during a comfortable walking speed, to determinate the most deleterious impairments and their evolutivity during a prolonged standardized walk. A second goal was to study the co-contraction of targeted muscles during these two walking conditions...
September 2016: Annals of Physical and Rehabilitation Medicine
https://www.readbyqxmd.com/read/27599588/freezing-of-gait-in-parkinson-s-disease-from-pathophysiology-to-emerging-therapies
#17
REVIEW
Alberto Cucca, Milton C Biagioni, Jori E Fleisher, Shashank Agarwal, Andre Son, Pawan Kumar, Miroslaw Brys, Alessandro Di Rocco
Freezing of gait (FOG) is 'an episodic inability to generate effective stepping in the absence of any known cause other than parkinsonism or high level gait disorders'. FOG is one of the most disabling symptoms in Parkinson's disease, especially in its more advanced stages. Early recognition is important as FOG is related to higher fall risk and poorer prognosis. Although specific treatments are still elusive, there have been recent advances in the development of new therapeutic approaches. The aim of this review is to present the latest knowledge regarding the phenomenology, pathogenesis, diagnostic assessment and conventional treatment of FOG in Parkinson's disease...
October 2016: Neurodegenerative Disease Management
https://www.readbyqxmd.com/read/27548849/longitudinal-changes-in-csf-alpha-synuclein-species-reflect-parkinson-s-disease-progression
#18
Nour K Majbour, Nishant N Vaikath, Paolo Eusebi, Davide Chiasserini, Mustafa Ardah, Shiji Varghese, M Emdadul Haque, Takahiko Tokuda, Peggy Auinger, Paolo Calabresi, Lucilla Parnetti, Omar M A El-Agnaf
BACKGROUND: Parkinson's disease (PD) diagnosis is mainly based on clinical criteria, with a high risk of misdiagnosis. The identification of reliable biomarkers for disease diagnosis and progression has a key role for developing disease-modifying therapies. In this article, we investigated the longitudinal changes of CSF α-synuclein species in early PD patients and explored the potential use of these species as surrogate biomarkers for PD progression. METHODS: We used our newly developed enzyme-linked immunosorbent assay systems for measuring different forms of α-synuclein, such as oligomeric-α-synuclein, phosphorylated-α-synuclein at serine 129, or total-α-synuclein in CSF from the longitudinal Deprenyl and Tocopherol Antioxidative Therapy for Parkinsonism study cohort (n = 121)...
October 2016: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/27506980/exclusive-expression-of-mecp2-in-the-nervous-system-distinguishes-between-brain-and-peripheral-rett-syndrome-like-phenotypes
#19
Paul D Ross, Jacky Guy, Jim Selfridge, Bushra Kamal, Noha Bahey, K Elizabeth Tanner, Thomas H Gillingwater, Ross A Jones, Christopher M Loughrey, Charlotte S McCarroll, Mark E S Bailey, Adrian Bird, Stuart Cobb
Rett syndrome (RTT) is a severe genetic disorder resulting from mutations in the X-linked MECP2 gene. MeCP2 protein is highly expressed in the nervous system and deficiency in the mouse central nervous system alone recapitulates many features of the disorder. This suggests that RTT is primarily a neurological disorder, although the protein is reportedly widely expressed throughout the body. To determine whether aspects of the RTT phenotype that originate in non-neuronal tissues might have been overlooked, we generated mice in which Mecp2 remains at near normal levels in the nervous system, but is severely depleted elsewhere...
August 9, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27320832/ballistic-strength-training-compared-with-usual-care-for-improving-mobility-following-traumatic-brain-injury-protocol-for-a-randomised-controlled-trial
#20
RANDOMIZED CONTROLLED TRIAL
Gavin Williams, Louise Ada, Leanne Hassett, Meg E Morris, Ross Clark, Adam L Bryant, John Olver
INTRODUCTION: Traumatic brain injury is the leading cause of disability in young adults aged 15 to 45 years. Mobility limitations are prevalent, and range in severity from interfering with basic day-to-day tasks to restricting participation in higher level social, leisure, employment and sporting activities. Despite the prevalence and severity of physical impairments, such as poor balance and spasticity, the main contributor to mobility limitations following traumatic brain injury is low muscle power generation...
July 2016: Journal of Physiotherapy
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