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Rajani Singh, Rajnish Arora, Raj Kumar
Chiari malformations (CMs) are variant structural setup of cerebellum and brain stem at the craniovertebral junction. Normally the cerebellum and parts of the brain stem lie above the foramen magnum. When the part of the cerebellum and/or brainstem protrudes into the upper spinal canal through foramen magnum, it is defined as CM. Chiari malformations may develop when part of the skull is smaller than normal or misshapen, due to which the cerebellum herniates into spinal canal through foramen magnum. This compresses the cerebellum and brainstem affecting functions controlled by these parts and blocks the flow of cerebrospinal fluid that surrounds and cushions the brain and spinal cord...
March 14, 2018: Journal of Craniofacial Surgery
Michael H Parkinson, Ana P Bartmann, Lisa M S Clayton, Suran Nethisinghe, Rolph Pfundt, J Paul Chapple, Mary M Reilly, Hadi Manji, Nicholas J Wood, Fion Bremner, Paola Giunti
Autosomal recessive spastic ataxia of Charlevoix-Saguenay is a rare neurodegenerative disorder caused by mutations in the SACS gene. Thickened retinal nerve fibres visible on fundoscopy have previously been described in these patients; however, thickening of the retinal nerve fibre layer as demonstrated by optical coherence tomography appears to be a more sensitive and specific feature. To test this observation, we assessed 292 individuals (191 patients with ataxia and 101 control subjects) by peripapillary time-domain optical coherence tomography...
March 12, 2018: Brain: a Journal of Neurology
Stefano Tozza, Raffaele Dubbioso, Rosa Iodice, Antonietta Topa, Marcello Esposito, Lucia Ruggiero, Emanuele Spina, Anna De Rosa, Francesco Saccà, Lucio Santoro, Fiore Manganelli
Niemann-Pick disease type C (NPC) is a recessive lysosomal lipid storage disorder characterized by central nervous system involvement. Miglustat treatment might improve or stabilize neurological manifestations but there is still limited data on the long-term efficacy. The aim of our study was to report a four-year clinical, neuropsychological and electrophysiological follow-up of two sisters under treatment with miglustat. We report data at basal (T0) and after 4 years (T4) of treatment with miglustat from two sisters (P1 and P2) affected by NPC disease...
March 13, 2018: Neurological Sciences
Zheng-Chao Gao, Bin-Bin Niu, Meng-Chao Gu, Yu-Huan Li, Jian-Tao Liu, Yi-Bin Wang, Xi-Jing He
OBJECTIVE: To systematically evaluate the clinical effect of high frequency repeated transcranial magnetic stimulation(HF rTMS)therapy on dyskinesia in patients with incomplete spinal cord injury. METHODS: Randomized controlled trials(RCTs) about HF rTMS therapy on patients with motor incomplete spinal cord injury were searched electronically in PubMed, Google scholar, Cochrane library, Clinical trial, Medline, Web of science, CNKI, VIP, and Wanfang database before October 2016...
January 25, 2018: Zhongguo Gu Shang, China Journal of Orthopaedics and Traumatology
Justin Ralph Abbatemarco, Mary Alissa Willis, Robert G Wilson, Sean J Nagel, Andre G Machado, Francois A Bethoux
OBJECTIVES: Stiff-person syndrome (SPS) is associated with axial rigidity superimposed on sustained muscle spasms. These symptoms commonly interfere with the performance of activities of daily living including ambulation. This retrospective case series evaluates the outcomes of screening tests and chronic infusion of intrathecal baclofen (ITB) in patients diagnosed with SPS treated in our spasticity clinic. MATERIALS AND METHODS: Patients were identified from an institutional review board-approved clinical registry of ITB therapy...
March 13, 2018: Neuromodulation: Journal of the International Neuromodulation Society
Huiyi H Chang, Jih-Chao Yeh, Ronaldo M Ichiyama, Larissa V Rodriguez, Leif A Havton
Spinal cord epidural stimulation (SCS) represents a form of neuromodulation for the management of spasticity and pain. This technology has recently emerged as a new approach for potentially augmenting locomotion and voiding function in humans and rodents after spinal cord injury. However, the effect of SCS on micturition has not been studied extensively. Here, SCS was first applied as a direct stimulus onto individual segmental levels of the lumbar spinal cord in rats to map evoked external urethral sphincter (EUS) electromyography activity and SCS-induced voiding contractions...
March 9, 2018: Experimental Neurology
Semra Aktürk, Raikan Büyükavcı, Yüksel Ersoy
OBJECTIVE: The aim of this study is to identify the effect on spasticity and walking of US-guided botulinum toxin type A (BoNT-A) injections administered to improve equinovarus walking pattern commonly observed in patients after stroke. MATERIAL AND METHOD: Twenty-three patients with post-stroke spastic equinovarus deformity were recruited. The US-guided BoNT-A injections were administered into the spastic muscles (including gastrocnemius; GK, soleus; S and tibialis posterior; TP) using a specific approach, and all of the patients were enrolled in rehabilitation programmes after the injections...
March 9, 2018: Toxicon: Official Journal of the International Society on Toxinology
Melissa Sorosina, Ferdinando Clarelli, Laura Ferrè, Ana Maria Osiceanu, Nazli Tugce Unal, Elisabetta Mascia, Vittorio Martinelli, Giancarlo Comi, Fabio Benigni, Federica Esposito, Filippo Martinelli Boneschi
BACKGROUND: Nabiximols (Sativex® ) is a cannabinoid-based compound used for the treatment of moderate to severe spasticity in multiple sclerosis (MS). The aim of the study is to investigate the effect of the administration of Nabiximols on blood transcriptome profile of MS patients and to interpret it in the context of pathways and networks. METHODS: Whole-genome expression profiling was performed in whole blood of 33 MS subjects at baseline (B) and after 4 weeks (4W) of drug treatment...
March 12, 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
Siri Lynne Rydning, Ales Dudesek, Florian Rimmele, Claudia Funke, Stefanie Krüger, Saskia Biskup, Magnus D Vigeland, Hanne S Hjorthaug, Yngve Sejersted, Chantal Tallaksen, Kaja K Selmer, Christoph Kamm
BACKGROUND AND PURPOSE: Hereditary spastic paraplegias (HSP) are clinically and genetically heterogenous monogenic disorders. To date, nearly 70 genes are known to be causative. The aim of this project was to identify the genetic cause of autosomal dominantly inherited pure HSP in two large, unrelated non-consanguineous families. METHODS: The two families were characterized clinically and selected members underwent whole exome sequencing. Potentially disease-causing variants were confirmed by Sanger sequencing and their functional consequences on protein function predicted by bioinformatic prediction tools...
March 12, 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
Giulia Coarelli, Silvia Romano, Lorena Travaglini, Michela Ferraldeschi, Francesco Nicita, Maria Spadaro, Arianna Fornasiero, Marina Frontali, Marco Salvetti, Enrico Bertini, Giovanni Ristori
Hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurological disorders characterized primarily by a pyramidal syndrome with lower limb spasticity, which can manifest as pure HSP or associated with a number of neurological or non-neurological signs (i.e., complicated HSPs). The clinical variability of HSPs is associated with a wide genetic heterogeneity, with more than eighty causative genes known. Recently, next generation sequencing (NGS) has allowed increasing genetic definition in such a heterogeneous group of disorders...
March 3, 2018: Clinical Neurology and Neurosurgery
Lenore Hawley, Jessica M Ketchum, Clare Morey, Kathleen Collins Pharm D, Susan Charlifue
OBJECTIVE: To describe the prevalence of cannabis use in an adult sample with spinal cord injury (SCI) or traumatic brain injury (TBI) in Colorado, and to describe the self-reported reasons and side effects of cannabis use in this sample. DESIGN: Mixed methods observational study, using focus group data and telephone survey SETTING: Community PARTICIPANTS: Colorado adults who have sustained SCI or moderate to severe TBI and have received services through the rehabilitation hospital conducting the study...
March 7, 2018: Archives of Physical Medicine and Rehabilitation
Sang Woo Jun, Suk Joong Yong, Min Jo, Young Ho Kim, Sung Hoon Kim
BACKGROUND: Electromyography and the modified Ashworth scale (MAS) are among the most effective methods for evaluating spasticity; however, these are often inappropriate for clinical use, owing to the complicated procedure and subjective evaluation outcomes. METHODS: A passive stretch reflex test was performed on 10 subjects with brain lesions. Furthermore, mechanomyography and electromyography were conducted on the vastus lateralis muscle (agonist) and semitendinosus muscle (antagonist) of the subjects with brain lesions...
March 6, 2018: Clinical Biomechanics
Simona Zanotti, Dimos Kapetis, Sara Gibertini, Franco Salerno, Emilio Ciusani, Chiara Colombo, Alessandro Gronchi, Lucia Morandi, Renato Mantegazza, Franco Molteni, Marina Mora
Botulin toxin (BTX) is widely used for treating skeletal muscle spasticity. Experimental reports on BTX treatment were mainly focused on the neuromuscular junction, while relatively little is known about toxin effects on the muscle cell itself. We investigated possible impact of BTX type A on skeletal muscle cell transcriptome by microarray analysis in muscle-derived cell cultures (fibroblasts, myoblasts and myotubes) from controls and spastic patients, and results were then validated at transcript and protein level...
March 6, 2018: Toxicology in Vitro: An International Journal Published in Association with BIBRA
Sylvia A Duraski, Anjum Sayyad
This article details an unreported potential cause of withdrawal symptoms in a patient with cerebral palsy who experienced intrathecal baclofen withdrawal shortly after placement of a baclofen pump with subsequent refill with Gablofen. Initial implantation of the baclofen pump with Lioresal occurred after a successful hospital trial of intrathecal injection via lumbar puncture. However, later, the patient did experience signs and symptoms of baclofen withdrawal after a pump refill was performed with Gablofen...
April 2018: Journal of Neuroscience Nursing: Journal of the American Association of Neuroscience Nurses
Jessica E McDonald, Amy M Knollinger
PURPOSE: To evaluate the use of hyaluronic acid (HA) subdermal filler in canines and felines for entropion. METHODS: Complete ophthalmologic examination was performed by a board-certified veterinary ophthalmologist or ABVO-approved resident. Each case was characterized as primary, secondary, spastic or cicatricial entropion. HA subdermal filler, specifically Restylane® and Restylane Silk® , were utilized in dogs and cats, respectively. Subdermal injection was performed 1-2 mm from the eyelid margin in the affected area until normal eyelid conformation was achieved...
March 9, 2018: Veterinary Ophthalmology
J Zhang, M Liu, L Zhou, Z B Zhang, J M Wang, Y W Jiang, Y Wu
Objective: To analyze the clinical and imaging features of hypomyelination with brain stem and spinal cord involvement and leg spasticity (HBSL) due to mutations in DARS, and to identify DARS mutations responsible for HBSL. Methods: Data on 2 HBSL patients who were admitted to the pediatric department of Peking University First Hospital from January 2009 through December 2016 were reviewed and the 2 patients were followed up. Targeted next generation sequencing, whole exome sequencing and Sanger sequencing were employed to identify potential genetic variations of the children and their parents...
March 2, 2018: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
Julie Gauthier, Inge A Meijer, Davor Lessel, Niccolò E Mencacci, Dimitri Krainc, Maja Hempel, Konstantinos Tsiakas, Holger Prokisch, Elsa Rossignol, Margaret H Helm, Lance H Rodan, Jason Karamchandani, Miryam Carecchio, Steven J Lubbe, Aida Telegrafi, Lindsay B Henderson, Kerry Lorenzo, Stephanie E Wallace, Ian A Glass, Fadi F Hamdan, Jacques L Michaud, Guy A Rouleau, Philippe M Campeau
VPS13 protein family members, VPS13A through VPS13C, have been associated with various recessive movement disorders. We describe the first disease association of rare recessive VPS13D variants including a frameshift, missense and a partial duplication with a novel complex, hyperkinetic neurological disorder. The clinical features include developmental delay, a childhood onset movement disorder (chorea, dystonia or tremor) and progressive spastic ataxia or paraparesis. Characteristic brain MRI shows basal ganglia or diffuse white matter T2 hyperintensities as seen in Leigh syndrome and chorea-acanthocytosis...
March 8, 2018: Annals of Neurology
Irene Pulido-Valdeolivas, David Gómez-Andrés, Juan Andrés Martín-Gonzalo, Irene Rodríguez-Andonaegui, Javier López-López, Samuel Ignacio Pascual-Pascual, Estrella Rausell
The Hereditary Spastic Paraplegias (HSP) are a group of heterogeneous disorders with a wide spectrum of underlying neural pathology, and hence HSP patients express a variety of gait abnormalities. Classification of these phenotypes may help in monitoring disease progression and personalizing therapies. This is currently managed by measuring values of some kinematic and spatio-temporal parameters at certain moments during the gait cycle, either in the doctor´s surgery room or after very precise measurements produced by instrumental gait analysis (IGA)...
2018: PloS One
Liesbeth F van Vulpen, Sonja de Groot, Eugene A Rameckers, Jules G Becher, Annet J Dallmeijer
BACKGROUND: In children with cerebral palsy (CP), strength training programs to improve walking capacity and participation in activities of daily living are commonly used in clinical practice, despite lacking evidence of its effectiveness. It has been suggested that strength training with high movement velocity could be more effective than traditional resistance training to improve functional abilities such as walking. In a recently published study, we have demonstrated the positive effects of functional high-velocity resistance (power) training on muscle strength and walking capacity in young children with CP...
March 7, 2018: European Journal of Physical and Rehabilitation Medicine
Shmuel Springer, Zvi Kozol, Zvi Reznic
The aim of this study was to test the effects of kilohertz frequency alternating current (KHFAC) surface stimulation applied to the ulnar nerve on force and myoelectrical activity of the abductor digiti minimi (ADM) muscle. Eighteen healthy volunteers (age: 27.6 ± 7.9 years; 10 males, 8 females) were included in the study. Each subject participated in one session during which a biphasic 7 kHz rectangular pulse was delivered above the medial epicondyle of the humerus to induce ulnar nerve blocking. ADM electromyographic (EMG) activity and contraction force were measured before (Pre), immediately after, and following 5 and 10 min post stimulation (post 1, post 2)...
March 8, 2018: Artificial Organs
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