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Ataxia or Gait Instability

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https://www.readbyqxmd.com/read/30541866/age-and-time-course-of-long-term-motor-and-nonmotor-complications-in-parkinson-disease
#1
Stéphane Prange, Teodor Danaila, Chloé Laurencin, Catherine Caire, Elise Metereau, Hélène Merle, Emmanuel Broussolle, Delphine Maucort-Boulch, Stéphane Thobois
OBJECTIVE: To determine the time course of hazard for motor and nonmotor milestones of Parkinson disease (PD) in the long term and to investigate whether risk scales nonlinearly with time is instrumental in identifying changes in pathological processes and evaluating disease-modifying therapies in PD. METHODS: Outpatients with PD at the Lyon University Movement Disorders Center were evaluated for 7 clinical milestones in this retrospective cohort study, encompassing 4 domains of PD progression: (1) motor (motor fluctuations, dyskinesias); (2) axial (postural instability and falls, freezing of gait); (3) neuropsychiatric (impulse control disorders, hallucinations); and (4) cognitive (dementia) complications...
December 12, 2018: Neurology
https://www.readbyqxmd.com/read/30536109/metronidazole-induced-encephalopathy-a-systematic-review
#2
REVIEW
Caspar Godthaab Sørensen, William Kristian Karlsson, Faisal Mohammad Amin, Mette Lindelof
BACKGROUND AND AIMS: Metronidazole, a commonly used antibiotic drug, can cause adverse effects in the central nervous system termed metronidazole-induced encephalopathy, leading to diagnostic challenges. The condition is rare and a detailed description of its phenotype is lacking. In this systematic review we investigated the clinical features of metronidazole-induced encephalopathy to promote recognition and elaborate the description. METHODS: We performed a systematic literature search using PubMed...
December 7, 2018: Journal of Neurology
https://www.readbyqxmd.com/read/30531838/atm-dependent-activation-of-sim2s-regulates-homologous-recombination-and-epithelial-mesenchymal-transition
#3
Scott J Pearson, Tapasree Roy Sarkar, Cole M McQueen, Jessica Elswood, Emily E Schmitt, Steven W Wall, Kelly C Scribner, Garhett Wyatt, Rola Barhoumi, Fariba Behbod, Monique Rijnkels, Weston W Porter
There is increasing evidence that genomic instability is a prerequisite for cancer progression. Here we show that SIM2s, a member of the bHLH/PAS family of transcription factors, regulates DNA damage repair through enhancement of homologous recombination (HR), and prevents epithelial-mesenchymal transitions (EMT) in an Ataxia-telangiectasia mutated (ATM)-dependent manner. Mechanistically, we found that SIM2s interacts with ATM and is stabilized through ATM-dependent phosphorylation in response to IR. Once stabilized, SIM2s interacts with BRCA1 and supports RAD51 recruitment to the site of DNA damage...
December 10, 2018: Oncogene
https://www.readbyqxmd.com/read/30531337/postural-control-skills-proprioception-and-risk-of-fall-in-long-term-survivor-patients-treated-with-knee-rotationplasty
#4
Maria Grazia Benedetti, Michael Coli, Laura Campanacci, Marco Manfrini
Knee A1 rotationplasty is a particular type of limb salvage surgery alternative to hip disarticulation and high transfemoral amputation for skeletally immature children with bone cancers in the distal femur. Notwithstanding optimal functional outcomes, long-term survivor patients often report frequent falls, and a sense of instability during gait, particularly on uneven terrain. This study aimed to assess the postural control, the proprioception, and the risk of fall in these patients, which have not been explored before...
December 10, 2018: International Journal of Rehabilitation Research. Revue Internationale de Recherches de Réadaptation
https://www.readbyqxmd.com/read/30525879/-ataxia-telangiectasia-a-prototype-of-neurological-involvement-in-primary-immune-deficiencies
#5
Zoltán Liptai
The number of primary immune deficiencies exceeds 350, approximately a quarter of them having neurological implications. Severe central nervous system infections may occur in an even higher proportion. Beyond listing in a table of all diseases with a neurological impact, the author gives detailed analysis of one typical disorder. Ataxia telangiectasia is caused by biallelic mutation of the ATM gene resulting in genomic instability, increased cancer risk, immune deficiency and a predominantly cerebellar neurodegeneration...
December 2018: Orvosi Hetilap
https://www.readbyqxmd.com/read/30517414/diagnostic-validity-of-biomarkers-in-parkinson-s-disease-systematic-review-and-meta-analysis
#6
Maria Fernanda Baeta Neves Alonso da Costa, Emilene Reisdorfer, Silvana Silveira Kempfer, Gisele Cristina Manfrini Fernandes, André Luís Porporatti, Graziela De Luca Canto
OBJECTIVE: To identify biomarkers for Parkinson's disease, cerebrospinal fluid, blood, saliva, and urine. METHOD: The studies were collected from the Cochrane, LILACS, PubMed, SCOPUS, WEB OF SCIENCE, OpenGrey, ProQuest and Google Scholar databases starting from May 3, 2016 and updated on March 20, 2017. Twenty-two studies were evaluated, by the Quality Assessment Tool for Diagnostic Accuracy Studies and Review Manager 5.3. RESULTS: Evidence shows that serum antibodies can be used as highly specific and accurate biomarkers for the diagnosis of Parkinson's disease at the outset...
November 2018: Revista Brasileira de Enfermagem
https://www.readbyqxmd.com/read/30504429/csf-%C3%AE-amyloid-42-and-risk-of-freezing-of-gait-in-early-parkinson-disease
#7
Ryul Kim, Joongyub Lee, Han-Joon Kim, Aryun Kim, Mihee Jang, Beomseok Jeon, Un Jung Kang
OBJECTIVE: To determine whether CSF biomarkers can be used as a predictor of freezing of gait (FOG) in Parkinson disease (PD) and to investigate the predictive value of clinical, dopamine transporter (DAT) imaging, and CSF parameters both separately and in combination. METHODS: This study using the PPMI data included 393 patients with newly diagnosed PD without FOG at baseline. We evaluated CSF for β-amyloid 1-42 (Aβ42 ), α-synuclein, total tau, phosphorylated tau181 , and the calculated ratio of Aβ42 to total tau at baseline...
November 30, 2018: Neurology
https://www.readbyqxmd.com/read/30503982/dynamic-balance-assessment-during-gait-in-children-with-down-and-prader-willi-syndromes-using-inertial-sensors
#8
V Belluscio, E Bergamini, G Salatino, T Marro, P Gentili, M Iosa, D Morelli, G Vannozzi
Down (DS) and Prader-Willi (PWS) syndromes are chromosomal disorders both characterized by obesity, ligament laxity, and hypotonia, the latter associated with gait instability. Although these shared features may justify a common rehabilitation approach, evidence exists that adults with DS and PWS adopt different postural and walking strategies. The development of an instrumented protocol able to describe these strategies and quantify patients' gait stability in the current clinical routine would be of great benefit for health professionals, allowing them to design personalized rehabilitation programs...
November 28, 2018: Human Movement Science
https://www.readbyqxmd.com/read/30496257/mediolateral-footpath-stabilization-during-walking-in-people-following-stroke
#9
Pei-Chun Kao, Shraddha Srivastava
Community dwelling stroke survivors most often fall while walking. Understanding how post-stroke individuals control mediolateral footpath during walking may help elucidate the mechanisms that contribute to walking instability. By applying the Uncontrolled Manifold (UCM) approach, we investigated (1) how post-stroke individuals coordinate lower-extremity joint motions to stabilize mediolateral footpath of the swing leg, and (2) how the inter-joint coordination in footpath stabilization correlates to their walking stability...
2018: PloS One
https://www.readbyqxmd.com/read/30482330/peripheral-nerve-disease
#10
Gita Ramdharry
Polyneuropathies are common neurologic disorders affecting the peripheral nerves. There are a number of causes of damage to these structures, such as genetic and metabolic factors, autoimmune disorders, infection, drug or environmental toxicity, and malignancy. Motor and sensory impairments are commonly encountered in these conditions, leading to altered balance and gait with increased risk of falling. Diabetic neuropathy is the most common cause of peripheral nerve disease and extensive investigation of balance and walking function revealed greater postural instability and delayed activation of distal muscles during walking...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/30482326/motor-neurone-disease
#11
Thanuja Dharmadasa, José Manuel Matamala, William Huynh, Margaret C Zoing, Matthew C Kiernan
Motor neurone disease (MND) patients exhibit poor gait, balance, and postural control, all of which significantly increases their risk of falling. Falls are frequent in the MND population, and are associated with an increased burden of disease. The complex interplay of both motor and extramotor manifestations in this disease contributes to the heterogeneous and multifactorial causes of such dysfunction. This review highlights the pathophysiologic influence of motor degeneration in gait disturbance, but also the additional influence on postural instability from other inputs such as cognitive impairment, autonomic dysregulation, cerebellar dysfunction, sensory impairment, and extrapyramidal involvement...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/30480086/risk-factors-of-levodopa-induced-dyskinesia-in-parkinson-s-disease-results-from-the-ppmi-cohort
#12
Paolo Eusebi, Michele Romoli, Federico Paolini Paoletti, Nicola Tambasco, Paolo Calabresi, Lucilla Parnetti
Levodopa-induced dyskinesias (LID) negatively impact on the quality of life of patients with Parkinson's disease (PD). We assessed the risk factors for LID in a cohort of de-novo PD patients enrolled in the Parkinson's Progression Markers Initiative (PPMI). This retrospective cohort study included all PD patients enrolled in the PPMI cohort. Main outcome was the incidence rate of dyskinesia, defined as the first time the patient reported a non-zero score in the item "Time spent with dyskinesia" of the MDS-UPDRS part IV...
2018: NPJ Parkinson's Disease
https://www.readbyqxmd.com/read/30466335/gait-training-devices-in-the-treatment-of-lower-extremity-injuries-in-sports-medicine-current-status-and-future-prospects
#13
Alexandra DeJong, Jay Hertel
This review seeks to provide synthesized information on gait-training techniques and devices applied, in four of the most prevalent chronic lower extremity injuries seen in sports medicine. Areas Covered: Comprehensive searches were performed in CINAHL and PubMed databases in April 2018 to identify gait-training articles in Chronic Ankle Instability (CAI), Exercise-Related Lower Leg Pain (ERLLP), Patellofemoral Pain (PFP), and Anterior Cruciate Ligament with Reconstruction (ACLR) populations. An investigator reviewed the articles and extracted data including study demographics, gait-training techniques, devices used, and primary gait-training outcomes...
November 22, 2018: Expert Review of Medical Devices
https://www.readbyqxmd.com/read/30456047/extreme-lateral-supracerebellar-infratentorial-approach-to-the-lateral-midbrain
#14
M Yashar S Kalani, William T Couldwell
This video illustrates the case of a 52-year-old man with a history of multiple bleeds from a lateral midbrain cerebral cavernous malformation, who presented with sudden-onset headache, gait instability, and left-sided motor and sensory disturbances. This lesion was eccentric to the right side and was located in the dorsolateral brainstem. Therefore, the lesion was approached via a right-sided extreme lateral supracerebellar infratentorial (exSCIT) craniotomy with monitoring of the cranial nerves. This video demonstrates the utility of the exSCIT for resection of dorsolateral brainstem lesions and how this approach gives the surgeon ready access to the supracerebellar space, and cerebellopontine angle cistern...
December 2018: Journal of Neurological Surgery. Part B, Skull Base
https://www.readbyqxmd.com/read/30442337/dna-damage-and-repair-in-individuals-with-ataxia-telangiectasia-and-their-parents
#15
Roberta Passos Palazzo, Laura Bannach Jardim, Alexandre Bacellar, Fernanda Ramos de Oliveira, Flora Troina Maraslis, Carolina Hilgert Jacobsen Pereira, Juliana da Silva, Sharbel Weidner Maluf
Ataxi A-T elangiectasia (AT) is a multisystem, complex and rare disease inherited in an autosomal recessive manner. Homozygous individuals have a variety of pathological manifestations, however, heterozygotes only present a higher risk of developing cancer. We evaluated the background levels of DNA damage (basal damage) and cell response to bleomycin or ionizing radiation using Comet assay and the cytokinesis-block micronucleus (CBMN) test in individuals with AT, their parents and controls. To evaluate DNA repair, the challenge experiment with ionizing radiation was performed using Comet assay, and different recovery times were evaluated...
December 2018: Mutation Research
https://www.readbyqxmd.com/read/30429820/the-neuromodulatory-impact-of-subthalamic-nucleus-deep-brain-stimulation-on-gait-and-postural-instability-in-parkinson-s-disease-patients-a-prospective-case-controlled-study
#16
Stanislaw Szlufik, Maria Kloda, Andrzej Friedman, Iwona Potrzebowska, Kacper Gregier, Tomasz Mandat, Andrzej Przybyszewski, Justyna Dutkiewicz, Monika Figura, Piotr Habela, Dariusz Koziorowski
Background: Subthalamic nucleus deep brain stimulation (STN-DBS) has been an established method in improvement of motor disabilities in Parkinson's disease (PD) patients. It has been also claimed to have an impact on balance and gait disorders in PD patients, but the previous results are conflicting. Objective: The aim of this prospective controlled study was to evaluate the impact of STN-DBS on balance disorders in PD patients in comparison with Best-Medical-Therapy (BMT) and Long-term-Post-Operative (POP) group...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/30417124/conserved-pbp1-ataxin-2-regulates-retrotransposon-activity-and-connects-polyglutamine-expansion-driven-protein-aggregation-to-lifespan-controlling-rdna-repeats
#17
Lauren A Ostrowski, Amanda C Hall, Kirk J Szafranski, Roxanne Oshidari, Karan J Abraham, Janet N Y Chan, Christian Krustev, Kevin Zhang, Ashley Wang, Yupeng Liu, Ru Guo, Karim Mekhail
Ribosomal DNA (rDNA) repeat instability and protein aggregation are thought to be two major and independent drivers of cellular aging. Pbp1, the yeast ortholog of human ATXN2, maintains rDNA repeat stability and lifespan via suppression of RNA-DNA hybrids. ATXN2 polyglutamine expansion drives neurodegeneration causing spinocerebellar ataxia type 2 and promoting amyotrophic lateral sclerosis. Here, molecular characterization of Pbp1 revealed that its knockout or subjection to disease-modeling polyQ expansion represses Ty1 (Transposons of Yeast) retrotransposons by respectively promoting Trf4-depedendent RNA turnover and Ty1 Gag protein aggregation...
2018: Communications biology
https://www.readbyqxmd.com/read/30416409/the-prevalence-of-cerebral-microbleeds-in-non-demented-parkinson-s-disease-patients
#18
Kyeong Joon Kim, Yun Jung Bae, Jong-Min Kim, Beom Joon Kim, Eung Seok Oh, Ji Young Yun, Ji Seon Kim, Han-Joon Kim
Background: Cerebral microbleeds (CMBs) are associated with cerebrovascular risk factors and cognitive dysfunction among patients with Parkinson's disease (PD). However, whether CMBs themselves are associated with PD is to be elucidated. Methods: We analyzed the presence of CMBs using 3-Tesla brain magnetic resonance imaging in non-demented patients with PD and in age-, sex-, and hypertension-matched control subjects. PD patients were classified according to their motor subtypes: tremor-dominant, intermediate, and postural instability-gait disturbance (PIGD)...
November 12, 2018: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/30416335/evaluation-of-dysphagia-in-different-phenotypes-of-early-and-idiopathic-parkinsonism
#19
Al-Amir Bassiouny Mohamed, Gharib Fawi Mohamed, Hassan Mohamed Elnady, Mohamed Abdelmoneim Sayed, Ahmed Mamdouh Imam, Megahed Mohamed Hassan, Sherihan Rezk Ahmed
Background: Parkinsonism (PD) is a common neurodegenerative disorders into which dysphagia occurs mainly in the late stage and to a lesser extent in an early stage. Diagnosis of dysphagia particularly in early idiopathic Parkinson's disease (IPD) is important as dysphagia affects the quality of life of patients and most of the patients are unaware of this important symptom. Method: Fifty-four patients were enrolled in this study presented with early IPD attending to the outpatient clinic of Sohag University Hospital...
2018: The Egyptian journal of neurology, psychiatry and neurosurgery
https://www.readbyqxmd.com/read/30409259/spect-molecular-imaging-in-atypical-parkinsonism
#20
Joachim Brumberg, Ioannis U Isaias
Atypical parkinsonism is the second most common diagnosis for patients with hypokinetic movement disorders. Beside common parkinsonian symptoms (i.e. bradykinesia and muscular rigidity) patients may also present a variety of additional motor and non-motor symptoms, such as oculomotor abnormalities, postural instability, ataxia, limb apraxia, autonomic dysfunctions, etc. Clinical heterogeneity and gradual manifestation during the disease course often hamper the diagnosis and adequate treatment. This chapter provides an overview of the contribution of single photon emission computed tomography (SPECT) in the differential diagnosis of atypical parkinsonism...
2018: International Review of Neurobiology
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