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https://www.readbyqxmd.com/read/29139079/neuromodulatory-procedures-for-gait-disorders-in-parkinson-s-disease
#1
REVIEW
Patrick Santens
The neurophysiology of gait is complex and involves numerous structures in the central nervous system. Gait disorders occur frequently in Parkinson's disease (PD), and their management may become cumbersome, especially in the more advanced stages. Neuromodulatory treatments, including deep brain stimulation, cortical stimulation and spinal cord stimulation, are reviewed with respect to their effectiveness to improve gait in PD patients. Although positive effects have been reported for all of these procedures, many issues remain in view of methodological heterogeneity, variability in outcome measures and sample size...
November 14, 2017: Acta Neurologica Belgica
https://www.readbyqxmd.com/read/29137009/brain-metabolism-in-patients-with-freezing-of-gait-after-hypoxic-ischemic-brain-injury-a-pilot-study
#2
Seo Yeon Yoon, Sang Chul Lee, Na Young Kim, Young-Sil An, Yong Wook Kim
Movement disorders are 1 of the long-term neurological complications that can occur after hypoxic-ischemic brain injury (HIBI). However, freezing of gait (FOG) after HIBI is rare. The aim of this study was to examine the brain metabolism of patients with FOG after HIBI using F-18 fluoro-2-deoxy-D-glucose positron emission tomography (F-18 FDG PET).We consecutively enrolled 11 patients with FOG after HIBI. The patients' overall brain metabolism was measured by F-18 FDG PET, and we compared their regional brain metabolic activity with that from 15 healthy controls using a voxel-by-voxel-based statistical mapping analysis...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29131814/effects-of-an-exercise-protocol-for-improving-handgrip-strength-and-walking-speed-on-cognitive-function-in-patients-with-chronic-stroke
#3
Jaeeun Kim, Jongeun Yim
BACKGROUND Handgrip strength and walking speed predict and influence cognitive function. We aimed to investigate an exercise protocol for improving handgrip strength and walking speed, applied to patients with chronic stroke who had cognitive function disorder. MATERIAL AND METHODS Twenty-nine patients with cognitive function disorder participated in this study, and were randomly divided into one of two groups: exercise group (n=14) and control group (n=15). Both groups underwent conventional physical therapy for 60 minutes per day...
November 13, 2017: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/29130632/dock3-related-neurodevelopmental-syndrome-biallelic-intragenic-deletion-of-dock3-in-a-boy-with-developmental-delay-and-hypotonia
#4
Aiko Iwata-Otsubo, Alyssa L Ritter, Brooke Weckselbatt, Nicole R Ryan, David Burgess, Laura K Conlin, Kosuke Izumi
Dedicator of cytokinesis (DOCK) family are evolutionary conserved guanine nucleotide exchange factors (GEFs) for the Rho GTPases, Rac, and Cdc42. DOCK3 functions as a GEF for Rac1, and plays an important role in promoting neurite and axonal growth by stimulating actin dynamics and microtubule assembly pathways in the central nervous system. Here we report a boy with developmental delay, hypotonia, and ataxia due to biallelic DOCK3 deletion. Chromosomal single nucleotide polymorphism (SNP) microarray analysis detected a 170 kb homozygous deletion including exons 6-12 of the DOCK3 gene at 3p21...
November 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29128929/freezing-of-gait-in-parkinson-s-disease-gray-and-white-matter-abnormalities
#5
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...
November 11, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/29126606/balance-study-in-asymptomatic-subjects-determination-of-significant-variables-and-reference-patterns-to-improve-clinical-application
#6
Juan de la Torre, Javier Marin, Jose J Marin, Jose M Auria, Maria B Sanchez-Valverde
Postural control is essential when carrying out everyday activities and its possible disorders have a very significant impact on personal autonomy. To provide the means to accurately measure postural control in the clinical environment, this study checks and discusses the suitability of procedures for a new balance assessment system with a stabilometric platform (MoveHuman-Dyna © UZ-IDERGO), which meets the criteria of clinical stabilometric standardisation established by the International Society for Posture and Gait Research (ISPGR) at the Bologna meeting (2009)...
November 7, 2017: Journal of Biomechanics
https://www.readbyqxmd.com/read/29126427/a-murine-model-for-developmental-dysplasia-of-the-hip-ablation-of-cx3cr1-affects-acetabular-morphology-and-gait
#7
George Feldman, Arlene Offemaria, Hind Sawan, Javad Parvizi, Theresa A Freeman
BACKGROUND: Developmental dysplasia of the hip (DDH) is a debilitating condition whose distinguishing signs include incomplete formation of the acetabulum leading to dislocation of the femur, accelerated wear of the articular cartilage and joint laxity resulting in osteoarthritis. It is a complex disorder having environmental and genetic causes. Existing techniques fail to detect milder forms of DDH in newborns leading to hip osteoarthritis in young adults. A sensitive, specific and cost effective test would allow identification of newborns that could be non-invasively corrected by the use of a Pavlik harness...
November 10, 2017: Journal of Translational Medicine
https://www.readbyqxmd.com/read/29126212/hereditary-spastic-paraplegia-type-5-natural-history-biomarkers-and-a-randomized-controlled-trial
#8
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...
November 6, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29125530/the-impact-of-symptoms-of-anxiety-and-depression-on-subjective-and-objective-outcome-measures-in-individuals-with-vestibular-disorders
#9
Sara G MacDowell, Rachel Trommelen, Ashlen Bissell, Lisa Knecht, Caitlin Naquin, Aryn Karpinski
BACKGROUND: Anxiety and depression are common in individuals with vestibular disorders and anecdotally symptoms of these disorders have been associated with poorer scores on subjective outcome measures of dizziness and balance. It is unknown if symptoms of psychological distress impact individual outcomes with vestibular rehabilitation therapy (VRT). OBJECTIVE: To compare subjective and objective outcome measures in subjects with vestibular disorders who have symptoms of anxiety and/or depression to those who do not exhibit those symptoms...
November 10, 2017: Journal of Vestibular Research: Equilibrium & Orientation
https://www.readbyqxmd.com/read/29125433/a-points-based-algorithm-for-prognosticating-clinical-outcome-of-chiari-malformation-type-i-with-syringomyelia-results-from-a-predictive-model-analysis-of-82-surgically-managed-adult-patients
#10
Sumit Thakar, Laxminadh Sivaraju, Kuruthukulangara S Jacob, Aditya Atal Arun, Saritha Aryan, Dilip Mohan, Narayanam Anantha Sai Kiran, Alangar S Hegde
OBJECTIVE Although various predictors of postoperative outcome have been previously identified in patients with Chiari malformation Type I (CMI) with syringomyelia, there is no known algorithm for predicting a multifactorial outcome measure in this widely studied disorder. Using one of the largest preoperative variable arrays used so far in CMI research, the authors attempted to generate a formula for predicting postoperative outcome. METHODS Data from the clinical records of 82 symptomatic adult patients with CMI and altered hindbrain CSF flow who were managed with foramen magnum decompression, C-1 laminectomy, and duraplasty over an 8-year period were collected and analyzed...
November 10, 2017: Journal of Neurosurgery. Spine
https://www.readbyqxmd.com/read/29122458/adult-onset-leukoencephalopathy-with-axonal-spheroids-and-pigmented-glia-alsp-integrating-the-literature-on-hereditary-diffuse-leukoencephalopathy-with-spheroids-hdls-and-pigmentary-orthochromatic-leukodystrophy-pold
#11
REVIEW
Scott J Adams, Andrew Kirk, Roland N Auer
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a progressive degenerative white matter disorder. ALSP was previously recognized as two distinct entities, hereditary diffuse leukoencephalopathy with spheroids (HDLS) and pigmentary orthochromatic leukodystrophy (POLD). However, recent identification of mutations in the tyrosine kinase domain of the colony stimulating factor 1 receptor (CSF1R) gene, which regulates mononuclear cell lineages including microglia, have provided genetic and mechanistic evidence that POLD and HDLS should be regarded as a single clinicopathologic entity...
November 6, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/29121516/comparing-motor-performance-praxis-coordination-and-interpersonal-synchrony-between-children-with-and-without-autism-spectrum-disorder-asd
#12
Maninderjit Kaur, Sudha M Srinivasan, Anjana N Bhat
Children with Autism Spectrum Disorder (ASD) have basic motor impairments in balance, gait, and coordination as well as autism-specific impairments in praxis/motor planning and interpersonal synchrony. Majority of the current literature focuses on isolated motor behaviors or domains. Additionally, the relationship between cognition, symptom severity, and motor performance in ASD is unclear. We used a comprehensive set of measures to compare gross and fine motor, praxis/imitation, motor coordination, and interpersonal synchrony skills across three groups of children between 5 and 12 years of age: children with ASD with high IQ (HASD), children with ASD with low IQ (LASD), and typically developing (TD) children...
November 6, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/29119100/motoric-cognitive-risk-syndrome-predictor-of-dementia-and-age-related-negative-outcomes
#13
REVIEW
Jagadish K Chhetri, Piu Chan, Bruno Vellas, Matteo Cesari
Cognitive disorders represent a leading cause of disability in the aging population, of which dementia has the highest global burden. Early signs of dementia such as slow gait and memory complaints are known to present well before the overt manifestation of the disease. Motoric cognitive risk (MCR) syndrome characterized by the simultaneous presence of gait disturbances and memory complaints in older subjects has been proposed to study the close interactions between the physical and cognitive domains as well as a possible approach to identify individuals at increased risk of dementia...
2017: Frontiers in Medicine
https://www.readbyqxmd.com/read/29114238/long-term-monitoring-gait-analysis-using-a-wearable-device-in-daily-lives-of-patients-with-parkinson-s-disease-the-efficacy-of-selegiline-hydrochloride-for-gait-disturbance
#14
Mutsumi Iijima, Hiroshi Mitoma, Shinichiro Uchiyama, Kazuo Kitagawa
Objective: The aim of this study was to assess quantitatively the gait disorders in the daily lives of patients with Parkinson's disease (PD) using with a newly developed portable gait rhythmogram (PGR), which has a trunk-mounted acceleration sensor and automatic gait-detection algorithm. Methods: Using the PGR, we recorded the daily walking profiles of 14 PD patients before and after the addition or increase in dose of an MAO-B inhibitor (selegiline, average dose: 4...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/29112981/adjustment-of-the-dynamic-weight-distribution-as-a-sensitive-parameter-for-diagnosis-of-postural-alteration-in-a-rodent-model-of-vestibular-deficit
#15
Brahim Tighilet, David Péricat, Alais Frelat, Yves Cazals, Guillaume Rastoldo, Florent Boyer, Olivier Dumas, Christian Chabbert
Vestibular disorders, by inducing significant posturo-locomotor and cognitive disorders, can significantly impair the most basic tasks of everyday life. Their precise diagnosis is essential to implement appropriate therapeutic countermeasures. Monitoring their evolution is also very important to validate or, on the contrary, to adapt the undertaken therapeutic actions. To date, the diagnosis methods of posturo-locomotor impairments are restricted to examinations that most often lack sensitivity and precision...
2017: PloS One
https://www.readbyqxmd.com/read/29110740/electrophysiological-investigations-in-orthostatic-myoclonus-preliminary-findings
#16
Aysegul Gunduz, Melih Tutuncu, Burcu Zeydan, Hulya Apaydin, Gunes Kiziltan, Sibel Ertan, Meral E Kiziltan
We report the clinical and electrophysiological findings in seven patients with orthostatic myoclonus (OM) associated with gait initiation failure and falls. OM is one of the causes of unsteadiness of stance and gait, and it may develop as a symptom of neurodegenerative disorders. Both positive myoclonic bursts and negative myoclonus may be seen in electrophysiological recordings, and electrophysiological analysis suggests a subcortical origin for OM.
November 7, 2017: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/29110179/a-double-blind-placebo-controlled-trial-of-triheptanoin-in-adult-polyglucosan-body-disease-and-open-label-long-term-outcome
#17
Raphael Schiffmann, Mary E Wallace, Daisy Rinaldi, Isabelle Ledoux, Marie-Pierre Luton, Scott Coleman, H Orhan Akman, Karine Martin, Jean-Yves Hogrel, Derek Blankenship, Jacob Turner, Fanny Mochel
BACKGROUND: Adult polyglucosan body disease (APBD) is a progressive neurometabolic disorder caused by a deficiency of glycogen branching enzyme. We tested the efficacy of triheptanoin as a therapy for patients with APBD based on the hypothesis that decreased glycogen degradation leads to brain energy deficit. METHODS AND RESULTS: This was a two-site, randomized crossover trial of 23 patients (age 35-73 years; 63% men) who received triheptanoin or vegetable oil as placebo...
November 6, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29107706/effects-of-transcranial-direct-current-stimulation-over-the-supplementary-motor-area-body-weight-supported-treadmill-gait-training-in-hemiparetic-patients-after-stroke
#18
Atsushi Manji, Kazu Amimoto, Tadamitsu Matsuda, Yoshiaki Wada, Akira Inaba, Sangkyun Ko
Transcranial direct current stimulation (tDCS) is used in a variety of disorders after stroke including upper limb motor dysfunctions, hemispatial neglect, aphasia, and apraxia, and its effectiveness has been demonstrated. Although gait ability is important for daily living, there were few reports of the use of tDCS to improve balance and gait ability. The supplementary motor area (SMA) was reported to play a potentially important role in balance recovery after stroke. We aimed to investigate the effect of combined therapy body weight-supported treadmill training (BWSTT) and tDCS on gait function recovery of stroke patients...
October 28, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/29100085/de-novo-missense-mutations-in-dhx30-impair-global-translation-and-cause-a-neurodevelopmental-disorder
#19
Davor Lessel, Claudia Schob, Sébastien Küry, Margot R F Reinders, Tamar Harel, Mohammad K Eldomery, Zeynep Coban-Akdemir, Jonas Denecke, Shimon Edvardson, Estelle Colin, Alexander P A Stegmann, Erica H Gerkes, Marine Tessarech, Dominique Bonneau, Magalie Barth, Thomas Besnard, Benjamin Cogné, Anya Revah-Politi, Tim M Strom, Jill A Rosenfeld, Yaping Yang, Jennifer E Posey, LaDonna Immken, Nelly Oundjian, Katherine L Helbig, Naomi Meeks, Kelsey Zegar, Jenny Morton, Jolanda H Schieving, Ana Claasen, Matthew Huentelman, Vinodh Narayanan, Keri Ramsey, Han G Brunner, Orly Elpeleg, Sandra Mercier, Stéphane Bézieau, Christian Kubisch, Tjitske Kleefstra, Stefan Kindler, James R Lupski, Hans-Jürgen Kreienkamp
DHX30 is a member of the family of DExH-box helicases, which use ATP hydrolysis to unwind RNA secondary structures. Here we identified six different de novo missense mutations in DHX30 in twelve unrelated individuals affected by global developmental delay (GDD), intellectual disability (ID), severe speech impairment and gait abnormalities. While four mutations are recurrent, two are unique with one affecting the codon of one recurrent mutation. All amino acid changes are located within highly conserved helicase motifs and were found to either impair ATPase activity or RNA recognition in different in vitro assays...
November 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29099017/a-comparative-evaluation-of-gait-between-children-with-autism-and-typically-developing-matched-controls
#20
Janet S Dufek, Jeffrey D Eggleston, John R Harry, Robbin A Hickman
Anecdotal reports suggest children with autism spectrum disorder (ASD) ambulate differently than peers with typical development (TD). Little empirical evidence supports these reports. Children with ASD exhibit delayed motor skills, and it is important to determine whether or not motor movement deficits exist during walking. The purpose of the study was to perform a comprehensive lower-extremity gait analysis between children (aged 5-12 years) with ASD and age- and gender-matched-samples with TD. Gait parameters were normalized to 101 data points and the gait cycle was divided into seven sub-phases...
January 5, 2017: Medical Sciences: Open Access Journal
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