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https://www.readbyqxmd.com/read/28099872/assessment-of-gait-and-sensorimotor-deficits-in-the-d1ct-7-mouse-model-of-tourette-syndrome
#1
Stephen C Fowler, Laura J Mosher, Sean C Godar, Marco Bortolato
Tourette syndrome (TS) is a neurodevelopmental disorder characterized by multiple motor and phonic tics. While TS patients have been also shown to exhibit subtle abnormalities of sensorimotor integration and gait, animal models of this disorder are seldom tested for these functions. To fill this gap, we assessed gait and sensorimotor integration in the D1CT-7 mouse, one of the best-validated animal models of TS. D1CT-7 mice exhibit spontaneous tic-like manifestations, which, in line with the clinical phenomenology of TS, are markedly exacerbated by environmental stress...
January 15, 2017: Journal of Neuroscience Methods
https://www.readbyqxmd.com/read/28099484/increased-anterior-pelvic-angle-characterizes-the-gait-of-children-with-attention-deficit-hyperactivity-disorder-adhd
#2
Hiroaki Naruse, Takashi X Fujisawa, Chiho Yatsuga, Masafumi Kubota, Hideaki Matsuo, Shinichiro Takiguchi, Seiichiro Shimada, Yuto Imai, Michio Hiratani, Hirotaka Kosaka, Akemi Tomoda
BACKGROUND: Children with attention deficit/hyperactivity disorder (ADHD) frequently have motor problems. Previous studies have reported that the characteristic gait in children with ADHD is immature and that subjects demonstrate higher levels of variability in gait characteristics for the lower extremities than healthy controls. However, little is known about body movement during gait in children with ADHD. The purpose of this study was to identify the characteristic body movements associated with ADHD symptoms in children with ADHD...
2017: PloS One
https://www.readbyqxmd.com/read/28097511/brain-calcification-and-movement-disorders
#3
REVIEW
Vladimir S Kostić, Igor N Petrović
Brain calcifications may be an incidental finding on neuroimaging in normal, particularly older individuals, but can also indicate numerous hereditary and nonhereditary syndromes, and metabolic, environmental, infectious, autoimmune, mitochondrial, traumatic, or toxic disorders. Bilateral calcifications most commonly affecting the basal ganglia may often be found in idiopathic cases, and a new term, primary familial brain calcification (PFBC), has been proposed that recognizes the genetic causes of the disorder and that calcifications occurred well beyond the basal ganglia...
January 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28095359/gait-deviations-associated-with-plantar-heel-pain-a-systematic-review
#4
REVIEW
Adam Phillips, Shane McClinton
BACKGROUND: Plantar heel pain is a common foot disorder associated with significant pain and gait-related disability. The aim of this systematic review was to identify gait deviations associated with plantar heel pain. METHODS: A systematic review of articles with quantitative gait variables in individuals with plantar heel pain was conducted using the CINAHL, MEDLINE, Scopus, and Embase databases. Methodological quality was assessed using the modified Downs and Black criteria and used along with the number of studies per gait variable to determine level of evidence...
December 24, 2016: Clinical Biomechanics
https://www.readbyqxmd.com/read/28078311/common-variant-rs356182-near-snca-defines-a-parkinson-s-disease-endophenotype
#5
Christine A Cooper, Nimansha Jain, Michael D Gallagher, Daniel Weintraub, Sharon X Xie, Yosef Berlyand, Alberto J Espay, Joseph Quinn, Karen L Edwards, Thomas Montine, Vivianna M Van Deerlin, John Trojanowski, Cyrus P Zabetian, Alice S Chen-Plotkin
OBJECTIVE: Parkinson's disease (PD) presents clinically with several motor subtypes that exhibit variable treatment response and prognosis. Here, we investigated genetic variants for their potential association with PD motor phenotype and progression. METHODS: We screened 10 SNPs, previously associated with PD risk, for association with tremor-dominant (TD) versus postural-instability gait disorder (PIGD) motor subtypes. SNPs that correlated with the TD/PIGD ratio in a discovery cohort of 251 PD patients were then evaluated in a multi-site replication cohort of 559 PD patients...
January 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28070457/the-concurrent-validity-and-reliability-of-the-leg-motion-system-for-measuring-ankle-dorsiflexion-range-of-motion-in-older-adults
#6
Carlos Romero Morales, César Calvo Lobo, David Rodríguez Sanz, Irene Sanz Corbalán, Beatriz Ruiz Ruiz, Daniel López López
BACKGROUND: New reliable devices for range of motion (ROM) measures in older adults are necessary to improve knowledge about the functional capability in this population. Dorsiflexion ROM limitation is associated with ankle injuries, foot pain, lower limb disorders, loss of balance, gait control disorders and fall risk in older adults. The aim of the present study was to assess the validity and reliability of the Leg Motion device for measuring ankle dorsiflexion ROM in older adults. METHODS: Adescriptive repeated-measures study was designed to test the reliability of Leg Motion in thirty-three healthy elderly patients older than 65 years...
2017: PeerJ
https://www.readbyqxmd.com/read/28064358/incipient-progressive-supranuclear-palsy-is-more-common-than-expected-and-may-comprise-clinicopathological-subtypes-a-forensic-autopsy-series
#7
Koji Yoshida, Yukiko Hata, Koshi Kinoshita, Shutaro Takashima, Kortaro Tanaka, Naoki Nishida
We investigated 998 serial Japanese forensic autopsy cases (0-101 years old, mean age 61.7 ± 21.9), with no case selection, using immunohistochemistry to detect cases with progressive supranuclear palsy (PSP). Twenty-nine cases (mean age 82.3 ± 7.2 years, 11 males, 18 females) fulfilled the National Institute of Neuronal Disorders and Stroke (NINDS)-PSP pathological criteria (2.9% of all cases, 4.6% of cases over 60). All had neuronal and glial inclusions in the basal ganglia and brainstem. However, 13 cases had low tau pathology and were categorized as atypical PSP...
January 7, 2017: Acta Neuropathologica
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
#8
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/28057016/the-effectiveness-of-robotic-assisted-gait-training-for-paediatric-gait-disorders-systematic-review
#9
Sophie Lefmann, Remo Russo, Susan Hillier
BACKGROUND: Robotic-assisted gait training (RAGT) affords an opportunity to increase walking practice with mechanical assistance from robotic devices, rather than therapists, where the child may not be able to generate a sufficient or correct motion with enough repetitions to promote improvement. However the devices are expensive and clinicians and families need to understand if the approach is worthwhile for their children, and how it may be best delivered. METHODS: The objective of this review was to identify and appraise the existing evidence for the effectiveness of RAGT for paediatric gait disorders, including modes of delivery and potential benefit...
January 5, 2017: Journal of Neuroengineering and Rehabilitation
https://www.readbyqxmd.com/read/28056870/anti-n-methyl-d-aspartate-receptor-nmdar-antibody-encephalitis-presents-in-atypical-types-and-coexists-with-neuromyelitis-optica-spectrum-disorder-or-neurosyphilis
#10
Kaiyu Qin, Wenqing Wu, Yuming Huang, Dongmei Xu, Lei Zhang, Bowen Zheng, Meijuan Jiang, Cheng Kou, Junhua Gao, Wurong Li, Jinglin Zhang, Sumei Wang, Yanfei Luan, Chaoling Yan, Dan Xu, Xinmei Zheng
BACKGROUND: Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is a clinically heterogeneous disorder characterized by epileptic seizures, psychosis, dyskinesia, consciousness impairments, and autonomic instability. Symptoms are always various. Sometimes it presents in milder or incomplete forms. We report 4 cases of anti-NMDAR encephalitis with incomplete forms, 3 cases of which were accompanied by neuromyelitis optica spectrum disorder or neurosyphilis respectively. CASE PRESENTATION: A 33-year-old man presented with dysarthria, movement disorder and occasional seizures...
January 5, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28050212/otoneurological-abnormalities-in-patients-with-friedreich-s-ataxia
#11
Bianca Simone Zeigelboim, Juliana Cristina Mesti, Vinicius Ribas Fonseca, João Henrique Faryniuk, Jair Mendes Marques, Rafaella Cardosa Cardoso, Hélio Afonso Ghizoni Teive
Introduction Friedreich's ataxia is a neurodegenerative disease and progressive by nature. It has autosomal recessive inheritance and early onset in most cases. Nystagmus and hearing loss (in some cases) make up some of the common symptoms seen in this disorder. Objective The objective of this study is to examine vestibular disorders in patients with Friedreich ataxia. Methods We conducted a retrospective cross-sectional study. We evaluated 30 patients with ages ranging from six to 72 years (mean age of 38...
January 2017: International Archives of Otorhinolaryngology
https://www.readbyqxmd.com/read/28049985/demyelinating-peripheral-neuropathy-due-to-renal-cell-carcinoma
#12
Kenya Nishioka, Motoki Fujimaki, Kazuaki Kanai, Yuta Ishiguro, Tomoko Nakazato, Ryota Tanaka, Kazumasa Yokoyama, Nobutaka Hattori
Renal cell carcinoma (RCC) patients who develop a paraneoplastic syndrome may present with neuromuscular disorders. We herein report the case of a 50-year-old man who suffered from progressive gait disturbance and muscle weakness. The results of a nerve conduction study fulfilled the criteria of chronic inflammatory demyelinating polyneuropathy. An abdominal CT scan detected RCC, the pathological diagnosis of which was clear cell type. After tumor resection and a single course of intravenous immunoglobulin therapy, the patient's symptoms drastically improved over the course of one year...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28042406/a-novel-deletion-mutation-of-exon-2-of-the-c19orf12-gene-in-an-omani-family-with-mitochondrial-membrane-protein-associated-neurodegeneration-mpan
#13
Nabil Al Macki, Ismail Al Rashdi
Mutations in the C19orf12 gene are known to cause mitochondrial membrane protein-associated neurodegeneration (MPAN), which is a neurodegeneration with brain iron accumulation (NBIA) type 4 disorder. To the best of our knowledge, this is the first report of a genetically confirmed case of MPAN from Oman. A novel homozygous deletion of exon 2 of the C19orf12 gene was confirmed on the proband, a seven-year-old girl, who presented with gait instability. Brain magnetic resonance imaging showed iron deposition on the basal ganglia...
January 2017: Oman Medical Journal
https://www.readbyqxmd.com/read/28031995/prevalence-of-progressive-supranuclear-palsy-in-yonago-change-throughout-a-decade
#14
Hiroshi Takigawa, Michio Kitayama, Kenji Wada-Isoe, Hisanori Kowa, Kenji Nakashima
BACKGROUND: Progressive supranuclear palsy (PSP) is a neurodegenerative disorder that is sometimes confused with Parkinson's disease, multiple system atrophy, and other disorders. The typical clinical features are categorized as Richardson's syndrome (RS), but other clinical subtypes include PSP-parkinsonism (PSP-P) and PSP-pure akinesia with gait freezing (PSP-PAGF). In this study, we determined the prevalence of PSP in a Japanese rural area compared to our previous 1999 report. METHODS: We collected data in Yonago City from 2009 to 2014 using a service-based study of PSP...
December 2016: Brain and Behavior
https://www.readbyqxmd.com/read/28027529/automatic-classification-of-gait-in-children-with-early-onset-ataxia-or-developmental-coordination-disorder-and-controls-using-inertial-sensors
#15
Andrea Mannini, Octavio Martinez-Manzanera, Tjitske F Lawerman, Diana Trojaniello, Ugo Della Croce, Deborah A Sival, Natasha M Maurits, Angelo Maria Sabatini
Early-Onset Ataxia (EOA) and Developmental Coordination Disorder (DCD) are two conditions that affect coordination in children. Phenotypic identification of impaired coordination plays an important role in their diagnosis. Gait is one of the tests included in rating scales that can be used to assess motor coordination. A practical problem is that the resemblance between EOA and DCD symptoms can hamper their diagnosis. In this study we employed inertial sensors and a supervised classifier to obtain an automatic classification of the condition of participants...
December 2, 2016: Gait & Posture
https://www.readbyqxmd.com/read/28026724/-gait-analysis-in-patients-with-hip-disorders
#16
K Urbášek, J Poul
Recent studies have shown that the evaluation of both conservative and surgical therapy cannot do without gait analysis. Orthopaedic textbooks, with some exceptions, deal in great detail with a thorough clinical examination of the patient but gait assessment is mentioned only marginally. More attention is paid to gait analysis in rehabilitation medicine. Motion and gait analysis laboratories equipped with optoelectronic cameras and force platforms were first developed for cerebral palsy children. Recently, several studies have been published on the use of these methods in disorders of hip and knee joints or spine diseases...
2016: Acta Chirurgiae Orthopaedicae et Traumatologiae Cechoslovaca
https://www.readbyqxmd.com/read/28018166/motor-dysfunctions-and-neuropathology-in-mouse-models-of-spinocerebellar-ataxia-type-2-a-comprehensive-review
#17
REVIEW
João M Da Conceição Alves-Cruzeiro, Liliana Mendonça, Luís Pereira de Almeida, Clévio Nóbrega
Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant ataxia caused by an expansion of CAG repeats in the exon 1 of the gene ATXN2, conferring a gain of toxic function that triggers the appearance of the disease phenotype. SCA2 is characterized by several symptoms including progressive gait ataxia and dysarthria, slow saccadic eye movements, sleep disturbances, cognitive impairments, and psychological dysfunctions such as insomnia and depression, among others. The available treatments rely on palliative care, which mitigate some of the major symptoms but ultimately fail to block the disease progression...
2016: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/28017232/stiff-person-syndrome-masquerading-as-multiple-sclerosis
#18
Joseph J Sabatino, Scott D Newsome
BACKGROUND: Stiff person syndrome (SPS) is a rare neuroimmunological disorder presenting with a wide variety of signs and symptoms that mimic neuro-inflammatory diseases, such as multiple sclerosis (MS), thus delaying diagnosis. METHODS: We performed a retrospective chart review of over 100 patients with SPS who were treated at Johns Hopkins Hospital and identified five patients previously diagnosed with MS. RESULTS: Patients were female with a mean age of 53years old (range 43-64)...
January 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28009063/lesions-causing-freezing-of-gait-localize-to-a-cerebellar-functional-network
#19
Alfonso Fasano, Simon E Laganiere, Susy Lam, Michael D Fox
OBJECTIVE: Freezing of gait is a disabling symptom in Parkinson's disease and related disorders, but the brain regions involved in symptom generation remain unclear. Here we analyze brain lesions causing acute onset freezing of gait to identify regions causally involved in symptom generation. METHODS: Fourteen cases of lesion-induced freezing of gait were identified from the literature and lesions were mapped to a common brain atlas. Because lesion-induced symptoms can come from sites connected to the lesion location, not just the lesion location itself, we also identified brain regions functionally connected to each lesion location...
December 23, 2016: Annals of Neurology
https://www.readbyqxmd.com/read/28007517/re-emergent-tremor-in-parkinson-s-disease
#20
Daniele Belvisi, Antonella Conte, Matteo Bologna, Maria Carmela Bloise, Antonio Suppa, Alessandra Formica, Matteo Costanzo, Pierluigi Cardone, Giovanni Fabbrini, Alfredo Berardelli
INTRODUCTION: Re-emergent tremor (RET) is a postural tremor that appears after a variable delay in patients with Parkinson's disease (PD). The aim of the present study was to evaluate the occurrence and the clinical characteristics of RET in a population of patients with PD. METHODS: We consecutively assessed 210 patients with PD. We collected the patients' demographic and clinical data. RET was clinically characterized in terms of latency, severity and body side affected...
December 16, 2016: Parkinsonism & related Disorders
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