Results 131 to 140 of about 147,177 (327)

Sialidosis type I: How to alleviate disabling myoclonic seizures?—A multicenter analysis of eight cases and review of the literature

Epilepsia Open, EarlyView.
Abstract Objective Sialidosis type I (ST‐1) is an autosomal‐recessive, very rare, progressive lysosomal storage disorder caused by pathogenic variants in NEU1. It is clinically characterized by progressive ataxia, myoclonic seizures (MS), bilateral tonic–clonic seizures (BTCS), and distinctive ophthalmological findings.
Janina Gburek‐Augustat, I‐Chun Lee, Marica Rubino, Vehap Topçu, Melissa Chavez‐Castillo, Shao Ching Tu, Marwan Shinawi, Isabel Alfradique‐Dunham, Manouela Valtcheva, Astrid Adarmes‐Gómez, Daniel Macias‐Garcia, Laura Laura Muñoz‐Delgado, Silvia Jesús, Pablo Mir, Andreas Merkenschlager, Antonietta Coppola   +15 more
wiley   +1 more source

Spasticity and spastic dystonia: the two faces of velocity-dependent hypertonia.

Journal of Electromyography & Kinesiology, 2017
BACKGROUND Spasticity and spastic dystonia are two separate phenomena of the upper motor neuron syndrome. Spasticity is clinically defined by velocity-dependent hypertonia and tendon jerk hyperreflexia due to the hyper-excitability of the stretch reflex.
L. Marinelli, A. Currà, C. Trompetto, E. Capello, C. Serrati, F. Fattapposta, E. Pelosin, C. Phadke, C. Aymard, L. Puce, F. Molteni, G. Abbruzzese, F. Bandini   +12 more
semanticscholar   +1 more source

Botulinum toxin treatment of spasticity in diplegic cerebral palsy : a randomised, double-blind, placebo-controlled, dose-ranging study [PDF]

This study evaluated the efficacy and safety of three doses of botulinum toxin A (BTX-A; Dysport®) in 125 patients (mean age 5.2 years, SD 2; 54% male)with dynamic equinus spasticity during walking. Participants were randomized to receive Dysport (10,
Bakheit, Boyd, Calderon-Gonzalez, Carr, Chutorian, Corry, Corry, Corry, Cosgrove, Denislic, Eames, Flett, Friedman, Haley, Heinen, Heinen, Hesse, Holly, Koman, Koman, Koman, Mall, Mousny, Msall, Russell, Russell, Sanchez-Carpintero, Scott, Sutherland, US Food and Drug Administration, Center for Drug Evaluation and Research, Wissel, World Health Organization., Yang   +32 more
core   +1 more source

Genetic Background Can Result in a Marked or Minimal Effect of Gene Knockout (GPR55 and CB2 Receptor) in Experimental Autoimmune Encephalomyelitis Models of Multiple Sclerosis [PDF]

, 2013
PMCID ...
A Compston, A Shetty, A Zimmer, AC Howlett, AE Bygrave, C Bolton, C Delarasse, C Delarasse, C Teuscher, Carolyn Tanner, CS Wu, CS Wu, D Baker, D Baker, D Baker, D Baker, D Baker, D Baker, D Baker, D McHugh, David Baker, David L. Selwood, DL Smith-Bouvier, E de Lago, E Kozela, E Montero, E Zurita, F Docagne, F Wu, G Disanto, G Musumeci, G Paltser, G Pryce, G Pryce, G Wotherspoon, Gareth Pryce, Gavin Giovannoni, Gregory J. Michael, H Kataoka, HM Vesterinen, I Mendel, J Corey-Bloom, J Karlsson, J Palazuelos, JA Encinas, JB Davis, JH Slingsby, JK O'Neill, JL Croxford, JL Croxford, JM Coquet, JP Zajicek, K Li, K Maresz, KM Spach, L Cristino, LM Olsson, LS Whyte, M Sundvall, M Webb, MF Festing, NA Balenga, NE Buckley, O Ofek, PC Staton, PD Fillmore, PM Hoi, RA Ross, RA Ross, RC Axtell, RG Pertwee, RG Pertwee, RJ Butterfield, Roberto Furlan, RS Graves, Ruth A. Ross, S Al-Izki, S Al-Izki, S Amor, S Amor, S Amor, S Katona, S Levine, S Levine, S Rossi, S Saadoun, Samuel J. Jackson, SC Landis, SJ Allen, Sofia Sisay, V Devonshire, Y Okuda, ZY Lou   +92 more
core   +3 more sources

”Not always the magic bullet”—Insufficient seizure control by ketogenic dietary therapies in Glut1 Deficiency Syndrome

Epilepsia Open, EarlyView.
Abstract Objective Ketogenic dietary therapies (KDTs) are the treatment of choice for Glut1 Deficiency Syndrome (Glut1DS), providing dietary ketones as an alternative fuel to the brain and effectively controlling seizures. Recent evidence indicates insufficient seizure control in Glut1DS patients despite adequate KDT and ketosis.
Joerg Klepper, Eva Runkel, Lucia Kiesel
wiley   +1 more source

A Modular Low-clearance Wrist Orthosis for Improving Wrist Motion in Children with Cerebral Palsy [PDF]

, 2014
Children with Cerebral Palsy (CP) often exhibit impairments in the coordination of the grip and lift phases of arm movements that directly impact their ability to perform activities of daily living (ADLs).
Beardsley, Scott A., Harris, Gerald F., Holley, Devon, Johnson, Michelle   +3 more
core   +2 more sources

Evaluating the Diagnostic Utility of Spinal Ultrasound in Neonates With a Simple Sacral Dimple: An Eight‐Year Retrospective Study

Journal of Medical Radiation Sciences, EarlyView.
This study retrospectively analysed eight years of neonatal spinal ultrasound data from a major Australian children's hospital to assess the value of imaging for simple sacral dimples. Out of 448 scans, 195 were for an isolated simple dimple, and only two infants (1%) were found to have spinal dysraphism, both with other congenital anomalies.
Nyles Tattersall, Lateisha Stam, Madonna Burnett, Deborah Starkey, Christopher Edwards, Tristan Reddan   +5 more
wiley   +1 more source

Movement Disorders Associated with 22q11.2 Microdeletion: A Scoping Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Movement disorders have recently emerged as important neurologic manifestations of the 22q11.2 microdeletion that affects nearly one in every 2000 live births. Objective We aimed to map the existing evidence regarding the spectrum, diagnosis and treatment, and etiopathogenesis of movement disorders associated with 22q11.2 ...
Nikolai Gil D. Reyes, Daniel G. Di Luca, Connie Marras, Erik Boot, Ryan K.C. Yuen, Anthony E. Lang, Anne S. Bassett   +6 more
wiley   +1 more source

Voice and Speech in Atypical Parkinsonian Disorders

Movement Disorders Clinical Practice, EarlyView.
Background Motor speech disorders are early, common, and functionally limiting features of atypical parkinsonian disorders (APDs) such as progressive supranuclear palsy (PSP), corticobasal syndrome (CBS), and multiple system atrophy (MSA). These impairments are underrecognized and undertreated in neurology clinics.
Federico Rodriguez‐Porcel, Farwa Ali, Michiko Bruno, Heather Davis Cuevas, Rohit Dhall, Kylie Dunne‐Platero, Lawrence I. Golbe, Ihtsham Haq, Nicole Herndon, Lawrence S. Honig, Kyurim Kang, Sarah Kremen, Guillaume Lamotte, Nikolaus R. McFarland, Michela Mir, Leila Montaser‐Kouhsari, Alexander Pantelyat, Joel Page, Hylan Pickett, Laura Purcell Verdun, Kelly Richardson, Jessica Shurer, Michelle Troche, Rene L. Utianski, Katya Villarreal‐Cavazos, Tuhin Virmani, Anne‐Marie Wills, as the Diagnosis and Treatment Working Group, CurePSP Center of Care (CoC) Network, Farwa Ali, Michiko Bruno, Timothy Chang, Rohit Dhall, Kimiko Domoto‐Reilly, Lawrence I. Golbe, Ihtsham Haq, Lawrence S. Honig, Sarah Kremen, Guillaume Lamotte, Zoltan Mari, Nikolaus R. McFarland, Leila Montaser‐Kouhsari, Alexander Pantelyat, Federico Rodriguez‐Porcel, Junaid Siddiqui, Jessica Shurer, Christopher Spears, Tuhin Virmani, Anne‐Marie Wills   +48 more
wiley   +1 more source

Optimal Management for People with Severe Spasticity [PDF]

, 2012
Spasticity is characterized by velocity-dependent increase in tonic stretch reflexes and tendon jerks. Many people affected by spasticity receive late treatment, or no treatment, which greatly reduces the potential to regain full motor control and ...
Kadyan, Vivek, Seibert, Pennie S., Shilt, Jeffrey S.   +2 more
core   +1 more source