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https://www.readbyqxmd.com/read/29342275/hot-spot-kif5a-mutations-cause-familial-als
#1
David Brenner, Rüstem Yilmaz, Kathrin Müller, Torsten Grehl, Susanne Petri, Thomas Meyer, Julian Grosskreutz, Patrick Weydt, Wolfgang Ruf, Christoph Neuwirth, Markus Weber, Susana Pinto, Kristl G Claeys, Berthold Schrank, Berit Jordan, Antje Knehr, Kornelia Günther, Annemarie Hübers, Daniel Zeller, Christian Kubisch, Sibylle Jablonka, Michael Sendtner, Thomas Klopstock, Mamede de Carvalho, Anne Sperfeld, Guntram Borck, Alexander E Volk, Johannes Dorst, Joachim Weis, Markus Otto, Joachim Schuster, Kelly Del Tredici, Heiko Braak, Karin M Danzer, Axel Freischmidt, Thomas Meitinger, Tim M Strom, Albert C Ludolph, Peter M Andersen, Jochen H Weishaupt
Heterozygous missense mutations in the N-terminal motor or coiled-coil domains of the kinesin family member 5A (KIF5A) gene cause monogenic spastic paraplegia (HSP10) and Charcot-Marie-Tooth disease type 2 (CMT2). Moreover, heterozygous de novo frame-shift mutations in the C-terminal domain of KIF5A are associated with neonatal intractable myoclonus, a neurodevelopmental syndrome. These findings, together with the observation that many of the disease genes associated with amyotrophic lateral sclerosis disrupt cytoskeletal function and intracellular transport, led us to hypothesize that mutations in KIF5A are also a cause of amyotrophic lateral sclerosis...
January 12, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29341797/visual-dependence-affects-postural-sway-responses-to-continuous-visual-field-motion-in-individuals-with-cerebral-palsy
#2
Yawen Yu, Richard T Lauer, Carole A Tucker, Elizabeth D Thompson, Emily A Keshner
The current study aimed to explore the impact of visual dependence on sensorimotor coupling of postural sway and visual motion in adults and teens with spastic cerebral palsy (CP). We hypothesized that individuals with CP would exhibit greater magnitudes of sway than healthy individuals, and the presence of visual dependence (VD) would produce instability in the direction of visual motion. Participants stood in a virtual environment in which the visual scene remained static or continuously rotated 30 degree/second in pitch-up or pitch-down...
January 17, 2018: Developmental Neurorehabilitation
https://www.readbyqxmd.com/read/29340258/atypical-initial-presentation-of-painful-muscle-cramps-in-a-patient-with-amyotrophic-lateral-sclerosis-a-case-report-and-brief-review-of-the-literature
#3
Aaron R Kuzel, Muhammad Uzair Lodhi, Intekhab Askari Syed, Mustafa Rahim
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized clinically by progressive muscle weakness that can occur proximally or distally in either the upper or lower extremities. It includes both upper motor neuron signs (spasticity, hyperreflexia, clonus, and Babinski sign) and lower motor neuron signs (atrophy, weakness, and muscle fasciculation). Initial presentation of progressively painful muscle cramps should lead the physician to screen for other signs of amyotrophic lateral sclerosis...
November 10, 2017: Curēus
https://www.readbyqxmd.com/read/29339959/medical-cannabis-a-beneficial-high-in-treatment-of-blepharospasm-an-early-observation
#4
Phillip M Radke, Ali Mokhtarzadeh, Michael S Lee, Andrew R Harrison
The objective of this study was to observe the effect of medical cannabis in benign essential blepharospasm (BEB) as an adjunct to botulinum toxin. A retrospective chart review was performed on patients certified for medical cannabis use for BEB from September 2015 to May 2016. Patient demographics and responses, cannabis history, and severity indices were collected. Ten patients were certified for medical cannabis use. Five met the inclusion criteria, which was any patient with a diagnosis of BEB receiving standard botulinum toxin treatment who had started medical cannabis treatment by a registered distributor within the state, and was contactable by phone...
October 2017: Neuro-ophthalmology
https://www.readbyqxmd.com/read/29339776/the-experience-of-spasticity-after-spinal-cord-injury-perceived-characteristics-and-impact-on-daily-life
#5
William Barry McKay, William Mark Sweatman, Edelle C Field-Fote
STUDY DESIGN: Cross-sectional survey. OBJECTIVES: Determine the impact of motor control characteristics attributed to spasticity, such as spasms, stiffness, and clonus on the daily life of people with spinal cord injury (SCI). SETTING: Nationwide, United States. METHODS: Internet-administered questionnaire, the Patient Reported Impact of Spasticity Measure (PRISM) and items describing characteristics of spasticity including stiffness, spasms, clonus, and pain...
January 16, 2018: Spinal Cord
https://www.readbyqxmd.com/read/29339100/genetic-variation-in-the-dopamine-system-influences-intervention-outcome-in-children-with-cerebral-palsy
#6
Rochellys Diaz Heijtz, Rita Almeida, Ann Christin Eliasson, Hans Forssberg
BACKGROUND: There is large variation in treatment responses in children with cerebral palsy. Experimental and clinical results suggest that dopamine neurotransmission and brain-derived neurotrophic factor (BDNF) signalling are involved in motor learning and plasticity, which are key factors in modern habilitation success. We examined whether naturally occurring variations in dopamine and BDNF genes influenced the treatment outcomes. METHODS: Thirty-three children (18-60months of age) with spastic unilateral cerebral palsy were enrolled in the study...
January 9, 2018: EBioMedicine
https://www.readbyqxmd.com/read/29338493/challenges-of-peroral-endoscopic-myotomy-in-the-treatment-of-distal-esophageal-spasm
#7
Fraukje Anna-Marie Ponds, André J P M Smout, Paul Fockens, Albert J Bredenoord
OBJECTIVE: Distal esophageal spasm (DES) is a rare motility disorder characterized by premature and rapidly propagated contractions of the distal esophagus. Treatment options are limited and often poorly effective. Peroral endoscopic myotomy (POEM) seems an effective and attractive new treatment option for DES. In this case report we describe some of the difficulties that could arise. MATERIALS AND METHODS: A 84-year old man with therapy-refractory DES and complaints of severe dysphagia and chest pain underwent a POEM procedure under general anesthesia...
January 17, 2018: Scandinavian Journal of Gastroenterology
https://www.readbyqxmd.com/read/29338380/transplantation-of-human-neural-progenitor-cells-reveals-structural-and-functional-improvements-in-the-spastic-han-wistar-rat-model-of-ataxia
#8
Ruslan L Nuryyev, Toni L Uhlendorf, Wesley Tierney, Suren Zatikyan, Oleg Kopyov, Alex Kopyov, Jessica Ochoa, William Van Trigt, Cindy S Malone, Randy W Cohen
The use of regenerative medicine to treat nervous system disorders like ataxia has been proposed to either replace or support degenerating neurons. In this study, we assessed the ability of human neural progenitor cells (hNPCs) to repair and restore the function of dying neurons within the spastic Han-Wistar rat (sHW), a model of ataxia. The sHW rat suffers from neurodegeneration of specific neurons, including cerebellar Purkinje cells and hippocampal CA3 pyramidal cells leading to the observed symptoms of forelimb tremor, hind-leg rigidity, gait abnormality, motor incoordination, and a shortened life span...
November 2017: Cell Transplantation
https://www.readbyqxmd.com/read/29336209/effects-of-treadmill-training-combined-with-serotonergic-interventions-on-spasticity-after-contusive-spinal-cord-injury
#9
Youngjae Ryu, Toru Ogata, Motoshi Nagao, Yasuhiro Sawada, Ryohei Nishimura, Naoki Fujita
Spasticity usually emerges during the course of recovery from spinal cord injury (SCI). While medications and physical rehabilitation are prescribed to alleviate spastic symptoms, the insufficiency of their effects remains an important problem to be addressed. Given the challenges associated with increasing the dose of medication, we supposed that a combination therapy with medication and physical rehabilitation can be effective. Therefore, we examined the effects of treadmill training (TMT) along with serotonergic medication using a spastic rat model after contusive injury...
January 16, 2018: Journal of Neurotrauma
https://www.readbyqxmd.com/read/29334339/impact-of-spasticity-on-transfers-and-activities-of-daily-living-in-individuals-with-spinal-cord-injury
#10
Jacqueline Tibbett, Eva G Widerström-Noga, Christine K Thomas, Edelle C Field-Fote
CONTEXT/OBJECTIVE: For persons with spinal cord injury, spasticity commonly interferes with activities of daily living such as transfers. Electromyography can be used to objectively measure muscle spasms during transfers, but how electromyographic measures relate to the impact spasticity has on life, or to clinically-rated spasticity, is unclear. We aimed to characterize relationships among spasm duration and magnitude, impact of spasticity on daily life, and a clinical measure of extensor spasticity, as well as to determine reliability of the electromyographic measures...
January 15, 2018: Journal of Spinal Cord Medicine
https://www.readbyqxmd.com/read/29333223/development-of-practical-functional-electrical-stimulation-cycling-systems-based-on-an-electromyography-study-of-the-cybathlon-2016
#11
Jetsada Arnin, Traisak Yamsa-Ard, Preechapawan Triponyuwasin, Yodchanan Wongsawat
The purpose of this study was to develop a functional electrical stimulation (FES) system based on the motor driving concept for use by spinal cord injury patients participating in the FES Cycling competition at the Cybathlon 2016. The proposed FES system consists of a low-power control system, a precise processor unit, and a 4-channel stimulation unit. Self-adhesive carbon conductive electrodes were utilized for stimulation. A 26-year-old SCI patient was qualified to participate in the competition. The pilot patient underwent training for 16 months, which included experience with FES stimulation, performing FES cycling, and reducing spasticity, to practice using the FES system...
December 5, 2017: European Journal of Translational Myology
https://www.readbyqxmd.com/read/29331873/epilepsy-and-ovarian-failure-two-cases-of-adolescent-onset-ovarioleukodystrophy
#12
José David Herrera-García, Virginia Guillen-Martínez, Carlota Creus-Fernández, Adolfo Mínguez-Castellanos, Cristóbal Carnero Pardo
Vanishing white matter disease (VWM) was described by Van der Knaap in 1996. This association with premature ovarian failure is known as ovarioleukodystrophy. This is a rare entity caused by a mutation in one of the subunits of eukaryotic initiation factor 2B (EIF2B). The onset in adulthood or late in adolescence is very infrequent. A 41-years-old woman and her 37-years-old sister developed epilepsy in association with premature ovarian failure at the age of 13 and 18 respectively. The oldest-one started 17 years later progressive subcortical cognitive decline with predominant behavioural disorders and a progressive spastic paraparesis in association with symmetric cystic changes in the with matter of both hemispheres...
January 5, 2018: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/29330071/onabotulinumtoxina-for-the-treatment-of-post-stroke-distal-lower-limb-spasticity-a-randomized-trial
#13
Theodore Wein, Alberto Esquenazi, Wolfgang H Jost, Anthony B Ward, Grace Pan, Rozalina Dimitrova
BACKGROUND: Post-stroke distal lower limb spasticity impairs mobility, limiting activities of daily living, requiring additional caregiver time. OBJECTIVE: To evaluate the efficacy, safety, and sustained benefit of onabotulinumtoxinA in adults with post-stroke lower limb spasticity (PSLLS). DESIGN: A multicenter, randomized, double-blind, phase 3, placebo-controlled trial. SETTING: 60 study centers across North America, Europe, Russia the United Kingdom, and South Korea...
January 9, 2018: PM & R: the Journal of Injury, Function, and Rehabilitation
https://www.readbyqxmd.com/read/29327099/-genetics-of-tremor
#14
REVIEW
G Kuhlenbäumer, F Hopfner
BACKGROUND: Tremor is a symptom of many diseases and can constitute a disease of its own: essential tremor. OBJECTIVE: The genetics of essential tremor and differential diagnosis of monogenic diseases with the symptom tremor. MATERIAL AND METHODS: Literature search and search of clinical genetics databases, e.g. OMIM, GeneReviews, MDSGene and the German Neurological Society (DGN) guidelines. RESULTS: The genetics of essential tremor remain unresolved in spite of large, adequately powered studies...
January 11, 2018: Der Nervenarzt
https://www.readbyqxmd.com/read/29326296/intrathecal-baclofen-therapy-versus-conventional-medical-management-for-severe-poststroke-spasticity-results-from-a-multicentre-randomised-controlled-open-label-trial-sisters
#15
Michael Creamer, Geoffrey Cloud, Peter Kossmehl, Michael Yochelson, Gerard E Francisco, Anthony B Ward, Jörg Wissel, Mauro Zampolini, Abdallah Abouihia, Nathalie Berthuy, Alessandra Calabrese, Meghann Loven, Leopold Saltuari
BACKGROUND: Intrathecal baclofen (ITB) is a treatment option for patients with severe poststroke spasticity (PSS) who have not reached their therapy goal with other interventions. METHODS: 'Spasticity In Stroke-Randomised Study' (SISTERS) was a randomised, controlled, open-label, multicentre phase IV study to evaluate the efficacy and safety of ITB therapy versus conventional medical management (CMM) with oral antispastic medications for treatment of PSS. Patients with chronic stroke with spasticity in ≥2 extremities and an Ashworth Scale (AS) score ≥3 in at least two affected muscle groups in the lower extremities (LE) were randomised (1:1) to ITB or CMM...
January 11, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29325791/the-therapeutic-effects-of-cannabis-and-cannabinoids-an-update-from-the-national-academies-of-sciences-engineering-and-medicine-report
#16
REVIEW
Donald I Abrams
The National Academies of Sciences, Engineering and Medicine conducted a rapid turn-around comprehensive review of recent medical literature on The Health Effects of Cannabis and Cannabinoids. The 16-member committee adopted the key features of a systematic review process, conducting an extensive search of relevant databases and considered 10,000 recent abstracts to determine their relevance. Primacy was given to recently published systematic reviews and primary research that studied one of the committee's 11 prioritized health endpoints- therapeutic effects; cancer incidence; cardiometabolic risk; respiratory disease; immune function; injury and death; prenatal, perinatal and postnatal outcomes; psychosocial outcomes; mental health; problem Cannabis use; and Cannabis use and abuse of other substances...
January 8, 2018: European Journal of Internal Medicine
https://www.readbyqxmd.com/read/29324409/assessment-of-spasticity-by-a-pendulum-test-in-sci-patients-who-exercise-fes-cycling-or-receive-only-conventional-therapy
#17
Lana Popovic-Maneski, Antonina Aleksic, Amine Metani, Vance Bergeron, Radoje Cobeljic, Dejan B Popovic
Increased muscle tone and exaggerated tendon reflexes characterize most of the individuals after a spinal cord injury (SCI). We estimated seven parameters from the pendulum test and used them to compare with the Ashworth modified scale of spasticity grades in three populations (retrospective study) to assess their spasticity. Three ASIA B SCI patients who exercised on a stationary FES bicycle formed group F, six ASIA B SCI patients who received only conventional therapy were in the group C, and six healthy individuals constituted the group H...
January 2018: IEEE Transactions on Neural Systems and Rehabilitation Engineering
https://www.readbyqxmd.com/read/29323025/non-invasive-brain-stimulation-to-promote-motor-and-functional-recovery-following-spinal-cord-injury
#18
REVIEW
Aysegul Gunduz, John Rothwell, Joan Vidal, Hatice Kumru
We conducted a systematic review of studies using non-invasive brain stimulation (NIBS: repetitive transcranial magnetic stimulation (rTMS) and transcranial direct current stimulation (tDCS)) as a research and clinical tool aimed at improving motor and functional recovery or spasticity in patients following spinal cord injury (SCI) under the assumption that if the residual corticospinal circuits could be stimulated appropriately, the changes might be accompanied by functional recovery or an improvement in spasticity...
December 2017: Neural Regeneration Research
https://www.readbyqxmd.com/read/29323006/spastic-paraparesis-with-basal-ganglia-changes-infantile-neuroaxonal-dystrophy
#19
Ananthanarayanan Kasinathan, Chirag K Ahuja, Pratibha Singhi
No abstract text is available yet for this article.
January 2018: Neurology India
https://www.readbyqxmd.com/read/29322885/analysis-of-a-15-years-experience-in-including-shoulder-muscles-when-treating-upper-limb-spasticity-post-stroke-with-botulinum-toxin-type-a
#20
Maria Pais de Carvalho, Daniela Pinto, Melissa Gorayeb, Jorge Jacinto
Background Botulinum toxin type-A (BoNTA) is a recognized treatment for upper limb spasticity (ULS) after stroke, but there aren't many studies analyzing its effect in shoulder muscles. Objective To evaluate the efficacy of BoNTA injections for ULS, when shoulder muscles are included. Methods A cross-sectional study. Data from clinical forms of outpatients, treated at a Rehabilitation Center (2001-2016). Analyzes: goals of treatment; demographic characteristics/goal; treatment success, using Goal Attainment Scaling...
January 11, 2018: Topics in Stroke Rehabilitation
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