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Myoclonus

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161. A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. Full Text available with Trip Pro

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. Progressive myoclonus epilepsies (PMEs) are a group of rare, inherited disorders manifesting with action myoclonus, tonic-clonic seizures and ataxia. We sequenced the exomes of 84 unrelated individuals with PME of unknown cause and molecularly solved 26 cases (31%). Remarkably, a recurrent de novo mutation, c.959G>A (p.Arg320His), in KCNC1 was identified as a new major cause for PME. Eleven unrelated exome-sequenced

2014 Nature Genetics

162. Propriospinal myoclonus: Clinical reappraisal and review of literature. Full Text available with Trip Pro

Propriospinal myoclonus: Clinical reappraisal and review of literature. Propriospinal myoclonus (PSM) is a rare disorder with repetitive, usually flexor arrhythmic brief jerks of the trunk, hips, and knees in a fixed pattern. It has a presumed generation in the spinal cord and diagnosis depends on characteristic features at polymyography. Recently, a historical paradigm shift took place as PSM has been reported to be a functional (or psychogenic) movement disorder (FMD) in most patients

2014 Neurology

163. Intravenous dezocine pretreatment reduces the incidence and intensity of myoclonus induced by etomidate. (Abstract)

Intravenous dezocine pretreatment reduces the incidence and intensity of myoclonus induced by etomidate. To evaluate the suppressive effect of intravenous dezocine on the incidence and severity of myoclonic movements induced by etomidate, a total of 80 patients, American Society of Anesthesiologists physical status I-II, were randomized into two equally sized groups (n = 40). These two groups were assigned to give either intravenous dezocine 0.1 mg/kg or a matching placebo (equal volume of 0.9 (...) % saline) 30 s before administration of etomidate. For anesthesia induction, 0.3 mg/kg etomidate was injected over a period of 1 min. One minute after etomidate administration, the severity of myoclonus was assessed. Pretreatment with dezocine significantly reduced both the incidence and intensity of myoclonus. These results demonstrate that intravenous dezocine 0.1 mg/kg 30 s prior to induction was effective in suppressing myoclonic movements in our patients.

2014 Journal of anesthesia Controlled trial quality: uncertain

164. Dezocine pretreatment prevents myoclonus induced by etomidate: a randomized, double-blinded controlled trial. (Abstract)

Dezocine pretreatment prevents myoclonus induced by etomidate: a randomized, double-blinded controlled trial. The aim of this randomized, double-blind, placebo-controlled clinical trial was to evaluate the effects of dezocine on the incidence and severity of myoclonus induced by etomidate. Patients (108) were randomly assigned to one of two groups to receive either 0.1 mg kg(-1) of dezocine (n = 54; Group D) or saline (n = 54; Group S) intravenously 1 min before 0.3 mg kg(-1) etomidate (...) was given. The occurrence and severity (observational score of 0-3) of myoclonus was assessed for 2 min after administration of etomidate. The incidence and the intensity of myoclonus were significantly lower in Group D (0 %) than in Group S (75.9 %) (P < 0.01), and all patients showed stable cardiovascular profiles. The results suggest that infusion of 0.1 mg kg(-1) dezocine 1 min before etomidate administration is effective for suppressing myoclonus induced by etomidate during induction of general

2014 Journal of anesthesia Controlled trial quality: predicted high

165. Impairment of Ceramide Synthesis Causes a Novel Progressive Myoclonus Epilepsy. (Abstract)

Impairment of Ceramide Synthesis Causes a Novel Progressive Myoclonus Epilepsy. Alterations of sphingolipid metabolism are implicated in the pathogenesis of many neurodegenerative disorders.We identified a homozygous nonsynonymous mutation in CERS1, the gene encoding ceramide synthase 1, in 4 siblings affected by a progressive disorder with myoclonic epilepsy and dementia. CerS1, a transmembrane protein of the endoplasmic reticulum (ER), catalyzes the biosynthesis of C18-ceramides.We

2014 Annals of Neurology

166. Expanding sialidosis spectrum by genome-wide screening: NEU1 mutations in adult-onset myoclonus. (Abstract)

Expanding sialidosis spectrum by genome-wide screening: NEU1 mutations in adult-onset myoclonus. To identify the genetic cause of a familial form of late-onset action myoclonus in 2 unrelated patients. Both probands had 2 siblings displaying a similar disorder. Extensive laboratory examinations, including biochemical assessment for urine sialic acid in the 2 probands, were negative.Exome sequencing was performed in the probands using an Illumina platform. Segregation analysis of putative (...) mutations was performed in all family members by standard Sanger sequencing protocols.NEU1 mutations were detected in 3 siblings of each family with prominent cortical myoclonus presenting in the third decade of life and having a mild and slowly progressive course. They did not have macular cherry-red spot and their urinary sialic acid excretion was within normal values. Genetic analysis demonstrated a homozygous mutation in family 1 (c.200G>T, p.S67I) and 2 compound heterozygous mutations in family 2

2014 Neurology

167. Cerebellar and cortical abnormalities in paediatric opsoclonus-myoclonus syndrome. Full Text available with Trip Pro

Cerebellar and cortical abnormalities in paediatric opsoclonus-myoclonus syndrome. Paediatric opsoclonus-myoclonus syndrome (OMS) is a poorly understood condition with long-term cognitive, behavioural, and motor sequelae. Neuroimaging has indicated cerebellar atrophy in the chronic phase, but this alone may not explain the cognitive sequelae seen in many children with OMS. This study aimed to determine the extent of structural change throughout the brain that may underpin the range of clinical

2014 Developmental Medicine and Child Neurology

168. Palato-pharyngo-laryngeal myoclonus … an unusual cause of dysphagia. Full Text available with Trip Pro

Palato-pharyngo-laryngeal myoclonus … an unusual cause of dysphagia. Dysphagia is a common problem in the elderly patient. Palato-pharyngo-laryngeal myoclonus, however, is a rare cause of this. We report a case of a 78-year-old man with dysphagia due to palato-pharngo-laryngeal myoclonus that was ultimately managed conservatively with a good functional outcome. © The Author 2014. Published by Oxford University Press on behalf of the British Geriatrics Society. All rights reserved

2014 Age and ageing

169. Propriospinal myoclonus: The spectrum of clinical and neurophysiological phenotypes. (Abstract)

Propriospinal myoclonus: The spectrum of clinical and neurophysiological phenotypes. Propriospinal myoclonus (PSM) is a rare type of spinal myoclonus characterized by muscle jerks that usually start in the midthoracic segments and then slowly propagate up and down into the spinal cord, resulting in repetitive and irregular jerky flexion, or extension of the trunk, neck, knees and hips. PSM can be symptomatic, but up to 80% of reported cases appear idiopathic. PSM tends to occur especially while

2014 Sleep medicine reviews

170. SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype Full Text available with Trip Pro

SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype Myoclonus dystonia syndrome (MDS) is a young-onset movement disorder. A proportion of cases are due to mutations in the maternally imprinted SGCE gene. We assembled the largest cohort of MDS patients to date, and determined the frequency and type of SGCE mutations. The aim was to establish the motor phenotype in mutation carriers and utility of current diagnostic criteria. Eighty-nine (...) onset upper body myoclonus and dystonia, (2) early childhood onset lower limb dystonia, progressing later to more pronounced myoclonus and upper body involvement, and (3) later childhood onset upper body myoclonus and dystonia with evident cervical involvement. Five probands had large contiguous gene deletions ranging from 0.7 to 2.3 Mb in size with distinctive clinical features, including short stature, joint laxity and microcephaly. Our data confirms that SGCE mutations are most commonly

2014 Journal of neurology

171. Dose-Dependent Olanzapine-Induced Myoclonus Full Text available with Trip Pro

Dose-Dependent Olanzapine-Induced Myoclonus Second-generation antipsychotics (SGA), mainly clozapine have been reported to induce myoclonus. Although olanzapine-induced myoclonus is reported, dose-dependent response has not been described. We report dose-related olanzapine-induced myoclonus in an early onset schizophrenia patient. We also suggest certain management strategies for such adverse side effects.

2014 Toxicology international

172. Myoclonus associated with concomitant ciprofloxacin and oxycodone in an older patient Full Text available with Trip Pro

Myoclonus associated with concomitant ciprofloxacin and oxycodone in an older patient 23879446 2015 02 07 2018 11 13 1365-2125 77 5 2014 May British journal of clinical pharmacology Br J Clin Pharmacol Myoclonus associated with concomitant ciprofloxacin and oxycodone in an older patient. 906-7 10.1111/bcp.12213 Kango Gopal Gopinath G Aged and Extended Care Services, The Queen Elizabeth Hospital, Woodville, SA, Australia. Hewton Cassie C Pazhvoor Shibu Krishnan SK eng Case Reports Letter England (...) Br J Clin Pharmacol 7503323 0306-5251 0 Analgesics, Opioid 0 Anti-Bacterial Agents 5E8K9I0O4U Ciprofloxacin CD35PMG570 Oxycodone IM Aged Aged, 80 and over Analgesics, Opioid adverse effects Anti-Bacterial Agents adverse effects Ciprofloxacin administration & dosage adverse effects Female Humans Myoclonus chemically induced Oxycodone administration & dosage adverse effects 2013 05 31 2013 07 08 2013 7 25 6 0 2013 7 25 6 0 2015 2 11 6 0 ppublish 23879446 10.1111/bcp.12213 PMC4004412 Drug Saf. 2011

2014 British journal of clinical pharmacology

173. The Neurophysiological Features of Myoclonus-Dystonia and Differentiation From Other Dystonias. Full Text available with Trip Pro

The Neurophysiological Features of Myoclonus-Dystonia and Differentiation From Other Dystonias. Myoclonus-dystonia (M-D) is a clinical syndrome characterized by a combination of myoclonic jerks and mild to moderate dystonia. The syndrome is related to ε-sarcoglycan (SGCE) gene mutations in about half the typical cases. Whether the M-D phenotype reflects a primary dysfunction of the cerebellothalamocortical pathway or of the striatopallidothalamocortical pathway is unclear. The exact role (...) underwent 3 sessions exploring the excitability of the primary motor cortex, the response of the primary motor cortex to a plasticity-inducing protocol, and the cerebellar-dependent eye-blink classic conditioning (EBCC). The clinical evaluation of patients included the Unified Myoclonus Rating Scale and Burke-Fahn-Marsden Dystonia Rating Scale.Myoclonus-dystonia with a proven SGCE mutation.We measured resting and active motor thresholds, and short-interval intracortical inhibition and facilitation

2014 JAMA neurology

174. The role of the cerebellum in the pathogenesis of cortical myoclonus. (Abstract)

The role of the cerebellum in the pathogenesis of cortical myoclonus. The putative involvement of the cerebellum in the pathogenesis of cortical myoclonic syndromes has been long hypothesized, as neuropathological changes in patients with cortical myoclonus have most commonly been found in the cerebellum rather than in the suspected culprit, the primary somatosensory cortex. A model of increased cortical excitability due to loss of cerebellar inhibitory control via cerebello-thalamo-cortical (...) connections has been proposed, but evidence remains equivocal. Here, we explore this hypothesis by examining syndromes that present with cortical myoclonus and ataxia. We first describe common clinical characteristics and underlying neuropathology. We critically view information on cerebellar physiology with regard to motorcortical output and compare findings between hypothesized and reported neurophysiological changes in conditions with cortical myoclonus and ataxia. We synthesize knowledge and focus

2014 Movement Disorders

175. Jerky Periods: Myoclonus Occurring Solely During Menses Full Text available with Trip Pro

Jerky Periods: Myoclonus Occurring Solely During Menses In this case report, we describe an unusual case of a patient with myoclonus only occurring during menses.A 41-year-old female, known to have neurological sequelae after a car accident 1 year earlier, presented with myoclonic movements of the right arm and hand only during menses. Brain magnetic resonance imaging is compatible with head trauma. Electromyography shows brief irregular bursts with a duration of about 20 ms.This appears (...) to be the first description of myoclonus appearing only during menses. We suggest a cortical origin for myoclonus.

2013 Tremor and Other Hyperkinetic Movements

176. Middle Ear Myoclonus: Two Informative Cases and a Systematic Discussion of Myogenic Tinnitus Full Text available with Trip Pro

Middle Ear Myoclonus: Two Informative Cases and a Systematic Discussion of Myogenic Tinnitus The term middle ear myoclonus (mem) has been invoked to explain symptoms of tinnitus presumably caused by the dysfunctional movement of either of the two muscles that insert in the middle ear: tensor tympani and stapedius. MEM has been characterized through heterogeneous case reports in the otolaryngology literature, where clinical presentation is variable, phenomenology is scarcely described

2013 Tremor and Other Hyperkinetic Movements

177. Efficacy Trial of Zonisamide for Myoclonus Dystonia

Efficacy Trial of Zonisamide for Myoclonus Dystonia Efficacy Trial of Zonisamide for Myoclonus Dystonia - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum number of saved studies (100). Please remove one or more studies before adding more. Efficacy Trial of Zonisamide for Myoclonus Dystonia (...) Details Study Description Go to Brief Summary: Myoclonus Dystonia is a disease in which myoclonus distort the precision of movements and so cause a handicap in the movements of the everyday life. Response to oral medications may be incomplete and surgery may cause operating risk. Zonisamide is an antiepileptic drug which could bring a therapeutic profit in Myoclonus Dystonia on the severity of the myoclonus. Condition or disease Intervention/treatment Phase Myoclonus Dystonia Drug: zonegran Drug

2013 Clinical Trials

180. The α<sub>2B</sub> adrenergic receptor is mutant in cortical myoclonus and epilepsy. Full Text available with Trip Pro

The α2B adrenergic receptor is mutant in cortical myoclonus and epilepsy. Autosomal dominant cortical myoclonus and epilepsy (ADCME) is characterized by distal, fairly rhythmic myoclonus and epilepsy with variable severity. We have previously mapped the disease locus on chromosome 2p11.1-q12.2 by genome-wide linkage analysis. Additional pedigrees affected by similar forms of epilepsy have been associated with chromosomes 8q, 5p, and 3q, but none of the causing genes has been

2013 Annals of Neurology

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