ライフサイエンスコーパス: myoclonus

1 lear envelopes, alteration in locomotion, or myoclonus.

2 mice exhibit motor deficits and spontaneous myoclonus.

3 es not produce abnormal nuclear envelopes or myoclonus.

4 otentials indicated a cortical origin of the myoclonus.

5 t, slowly progressive, disabling, multifocal myoclonus.

6 xia, cortical sensory deficits, dystonia and myoclonus.

7 gressive encephalomyelitis with rigidity and myoclonus.

8 ellum is the underlying cause of posthypoxic myoclonus.

9 n of myoclonus in a rat model of posthypoxic myoclonus.

10 were evaluated in a rat model of posthypoxic myoclonus.

11 dically refractory, progressive epilepsy and myoclonus.

12 inds a precedent in the syndrome of cortical myoclonus.

13 d in an established rat model of posthypoxic myoclonus.

14 ain nuclei possibly involved in post-hypoxic myoclonus.

15 at underwent 4 min of cardiac arrest without myoclonus.

16 LF plays a contributing role in post-hypoxic myoclonus.

17 ma-hydroxybutyric acid for alcohol-sensitive myoclonus.

18 oherence evident between signals in cortical myoclonus.

19 may be exaggerated in patients with cortical myoclonus.

20 nge of frequencies in patients with cortical myoclonus.

21 analyzed movement behavior in a patient with myoclonus.

22 e motor areas producing the typical regional myoclonus.

23 wever, with intact RRN and vMPJ never showed myoclonus.

24 ctivation of NMDA receptors in NMC can block myoclonus.

25 ts were included, of whom 69 (16%) had early myoclonus.

26 gressive encephalomyelitis with rigidity and myoclonus.

27 rapeutic hypothermia and 471 (18%) exhibited myoclonus.

28 limbic involvement), and two had opsoclonus-myoclonus.

29 gressive encephalomyelitis with rigidity and myoclonus.

30 the VGKCC syndrome, had been misdiagnosed as myoclonus.

31 gressive encephalomyelitis with rigidity and myoclonus.

32 gressive encephalomyelitis with rigidity and myoclonus.

33 gressive encephalomyelitis with rigidity and myoclonus.

34 ms were more common at younger age of onset (myoclonus 0.93, 0.90-0.97, p=0.0007; seizures 0.95, 0.92

35 ndromes (transverse myelitis (1), opsoclonus myoclonus (1)).

36 nt early, but quickly became overshadowed by myoclonus; 10 patients were wheelchair-bound by their la

37 onal neurological features; individuals with myoclonus (40 [47%] with PSEN1 mutations and 12 [33%] wi

38 ment disorders, including tremor (15 [94%]), myoclonus (5 [31%]), and parkinsonism (11 [69%]), were c

39 verify that the lesions were responsible for myoclonus, 6 additional cats received N-methyl-D-asparta

40 All cases initially presented with mild myoclonus affecting the upper limbs.

41 ine percent of cardiac arrest survivors with myoclonus after cardiac arrest had good functional outco

42 edominantly distal, semi-continuous rhythmic myoclonus (all patients), generalized tonic-clonic seizu

43 tonomic disorders and spontaneous and evoked myoclonus, among other symptoms.

44 sive cortical dementia with pyramidal signs, myoclonus and cerebellar abnormalities that closely rese

45 by predominant alcohol responsive upper body myoclonus and dystonia.

46 Autosomal dominant cortical myoclonus and epilepsy (ADCME) is characterized by dista

47 this disorder as autosomal dominant cortical myoclonus and epilepsy (ADCME).

48 is characterized by distal, fairly rhythmic myoclonus and epilepsy with variable severity.

49 mental ability as well as the development of myoclonus and extrapyramidal signs are consistent manife

50 racetam is especially useful for posthypoxic myoclonus and gamma-hydroxybutyric acid for alcohol-sens

51 With myoclonus and good outcome, median ICU length of stay wa

52 to exhibit periods of spontaneous or sensory myoclonus and locomotion beginning 24 h after decerebrat

53 l had cerebellar signs, and the majority had myoclonus and lower limb pyramidal signs, with relativel

54 beta3-deficient mice display frequent myoclonus and occasional epileptic seizures, documented

55 rx plus 7") pups display abnormal spasm-like myoclonus and other key EEG features, including multifoc

56 withdrawn in 330 of 427 patients (78%) with myoclonus and poor outcome, due to neurological futility

57 ge (median = 9.5), with progressively severe myoclonus and rare tonic-clonic seizures.

58 ane hyperexcitability and pathophysiology of myoclonus and related disorders.

59 18 and 15 (83%) of 18 patients had improved myoclonus and sedation after hydration versus eight (47%

60 resented as a progressive cognitive decline, myoclonus and seizures developing later in the disease,

61 Myoclonus and seizures were prominent features of this p

62 Myoclonus and seizures were the most common additional n

63 of abnormal neurotransmission, manifested by myoclonus and seizures, the molecular mechanisms by whic

64 was higher in the published data cohort for myoclonus and spasticity (19.4%, 16.6-22.2 and 15.0%, 12

65 ns in the DIAN-OBS cohort was low, including myoclonus and spasticity (9.3%, 95% CI 3.8-15.0), and se

66 c studies demonstrated a cortical origin for myoclonus and striking coactivation of agonist and antag

67 s consists of: rapidly progressive dementia, myoclonus and typical electroencephalographic findings (

68 Other patterns were subcortical myoclonus and unclassifiable.

69 argic (lh) is characterized by ataxia, focal myoclonus, and absence epilepsy due to a loss-of-functio

70 association with paraneoplastic opsoclonus, myoclonus, and ataxia.

71 a bilateral jerky tremor, stimulus-sensitive myoclonus, and difficulty with tandem gait.

72 oplastic cerebellar degeneration, opsoclonus-myoclonus, and encephalitides affecting the limbic syste

73 display severe ataxia, tremulous movements, myoclonus, and hypersensitivity to ethanol.

74 There are no approved medications for myoclonus, and most therapies are borrowed from the anti

75 t pupillary or corneal reflexes, presence of myoclonus, and neuron-specific enolase greater than 75 m

76 Movement disorders, including tremor, myoclonus, and parkinsonism, may be present during acute

77 nt our approach for evaluating patients with myoclonus, and suggest practical guidelines for treating

78 gressive encephalomyelitis with rigidity and myoclonus, and two as stiff person syndrome; five had a

79 Clinical presentations of myoclonus are divided into physiological, essential, epi

80 ations which are being used in management of myoclonus are levetiracetam and gamma-hydroxybutyric aci

81 Most causes of myoclonus are symptomatic and include posthypoxia, toxic

82 determining the medical significance of the myoclonus as well as for its treatment.

83 gressive encephalomyelitis with rigidity and myoclonus associated with glycine receptor alpha 1 antib

84 5-phosphonopentanoic acid (AP5, 20 mM) block myoclonus at a latency of 0.6-3 min with the block lasti

85 The severity of action myoclonus at baseline correlated negatively with the con

86 s in their behaviour, facial automatisms and myoclonus at the time of epileptiform ECoG events.

87 em reflexes, motor response, and presence of myoclonus) at Day 3 after cardiac arrest remains an accu

88 rotein Nova-1, the paraneoplastic opsoclonus-myoclonus ataxia (POMA) antigen.

89 Paraneoplastic opsoclonus myoclonus ataxia (POMA) is a neurologic disorder thought

90 toimmune target in paraneoplastic opsoclonus myoclonus ataxia (POMA) patients with latent cancer, red

91 an autoantigen in paraneoplastic opsoclonus myoclonus ataxia (POMA), a disorder associated with brea

92 tigens targeted in paraneoplastic opsoclonus myoclonus ataxia (POMA), an autoimmune neurologic diseas

93 nts suffering from paraneoplastic opsoclonus myoclonus ataxia (POMA), Nova-1 and Nova-2 proteins are

94 utoimmune disorder paraneoplastic opsoclonus-myoclonus ataxia (POMA).

95 ic motor disorder [paraneoplastic opsoclonus-myoclonus ataxia (POMA)].

96 utoimmune disorder paraneoplastic opsoclonus-myoclonus ataxia and contain K-homology (KH)-type RNA bi

97 ith the possible exception of the opsoclonus-myoclonus ataxia and Lambert-Eaton myasthenic syndromes.

98 utoimmune disorder paraneoplastic opsoclonus-myoclonus ataxia, which is characterized by failure of i

99 he pathogenesis of paraneoplastic opsoclonus-myoclonus-ataxia (POMA).

100 Opsoclonus-myoclonus-ataxia syndrome (OMS) is a severe autoimmune c

101 yotonia (Caspr2 antibodies), and opsoclonus--myoclonus--ataxia (unknown antigens).

102 induced episodes of generalized rigidity and myoclonus, axial hyperextension, and trismus, without im

103 For patients with clinically evident myoclonus before awakening, 2 expert physicians reviewed

104 (supranuclear vertical gaze palsy, rhythmic myoclonus, dementia with psychiatric symptoms, or hypoth

105 The evaluation of a patient with myoclonus depends completely on the clinical history and

106 ents with multifocal high frequency rhythmic myoclonus due to non-progressive conditions.

107 as recently been shown to be associated with myoclonus dystonia (M-D) in one large family.

108 Myoclonus dystonia (M-D) is a hereditary movement disord

109 Hereditary autosomal dominant myoclonus dystonia (MD) is a movement disorder character

110 We established a cohort of patients with myoclonus dystonia syndrome and SGCE mutations to determ

111 Myoclonus dystonia syndrome is a childhood onset hyperki

112 n all, 89 patients with clinically suspected myoclonus dystonia syndrome were recruited from the UK a

113 SGCE) cause the neurogenic movement disorder myoclonus dystonia syndrome.

114 dystonia, writer's cramp, cranial dystonia, myoclonus dystonia, and off-state dystonia associated wi

115 (DYT6 and DYT13), dopa-responsive dystonia, myoclonus dystonia, rapid-onset dystonia parkinsonism, F

116 romuscular disorders, such as hyperekplexia, myoclonus, dystonia, and epilepsy.

117 Myoclonus-dystonia (M-D) is a clinical syndrome characte

118 DYT11 myoclonus-dystonia (M-D) is a movement disorder characte

119 Myoclonus-dystonia (M-D) is a rare movement disorder cha

120 Myoclonus-dystonia (M-D) is a very rare movement disorde

121 port a large kindred with essential familial myoclonus-dystonia and map a locus for the disorder to a

122 rophysiological subcortical abnormalities in myoclonus-dystonia and their modulation by alcohol admin

123 Essential myoclonus-dystonia is a neurological condition character

124 Myoclonus-dystonia patients also shared some common path

125 rainstem interaction were investigated in 17 myoclonus-dystonia patients with epsilon-sarcoglycan (SG

126 generated iPSC-derived cortical neurons from myoclonus-dystonia patients with mutations (W100G and R1

127 ved cortical neurons with SGCE mutations for myoclonus-dystonia research and, in more general terms,

128 Myoclonus-dystonia syndrome (MDS) is a genetically heter

129 Myoclonus-dystonia with a proven SGCE mutation.

130 solated dystonia, good treatment response in myoclonus-dystonia, and suggest that early treatment cor

131 Clinical and genetic heterogeneity underlie myoclonus-dystonia, dopa-responsive dystonia and deafnes

132 erexcitability characteristic of this unique myoclonus-dystonia-like syndrome associated with cardiac

133 ree-generation family with a unique dominant myoclonus-dystonia-like syndrome with cardiac arrhythmia

134 clinical examination (brainstem reflexes and myoclonus), electroencephalography reactivity during the

135 Progressive myoclonus epilepsies (PMEs) are a group of rare, inherit

136 el for human Unverricht-Lundborg progressive myoclonus epilepsy (EPM1) on 21q22.3 nor for spinocerebe

137 ickle 1 (Pk1) is associated with progressive myoclonus epilepsy (PME) in humans, and its reduced gene

138 Progressive myoclonus epilepsy (PME) is a syndrome characterized by

139 gregating an autosomal recessive progressive myoclonus epilepsy (PME) with early ataxia.

140 comprehensively describe the new syndrome of myoclonus epilepsy and ataxia due to potassium channel m

141 nerative disease that results in progressive myoclonus epilepsy and death.

142 n this study CNS tissues from a patient with myoclonus epilepsy and ragged red fibers (MERRF) syndrom

143 Lafora disease is a progressive myoclonus epilepsy caused by mutations in the EPM2A or E

144 disease (LD) is a fatal form of progressive myoclonus epilepsy caused by recessive mutations in eith

145 Lafora disease is a fatal, progressive myoclonus epilepsy caused in ~90% of cases by mutations

146 LD) is a teenage-onset inherited progressive myoclonus epilepsy characterized by the accumulations of

147 is an autosomal recessive, fatal progressive myoclonus epilepsy characterized by the intracellular bu

148 Lafora disease (LD) is a fatal progressive myoclonus epilepsy characterized neuropathologically by

149 CBD of laforin likely result in progressive myoclonus epilepsy due to mis-localization of phosphatas

150 5, we mapped a gene for Lafora's progressive myoclonus epilepsy in chromosome 6q23-25.

151 Lafora disease (progressive myoclonus epilepsy of Lafora type) is an autosomal reces

152 The gene responsible for progressive myoclonus epilepsy of the Unverricht-Lundborg type (EPM1

153 Progressive myoclonus epilepsy of the Unverricht-Lundborg type (EPM1

154 ene ( CSTB ) are responsible for progressive myoclonus epilepsy type 1 (EPM1; MIM 254800).

155 in, leading to neurodegeneration in mice and myoclonus epilepsy with dementia in humans.

156 Lafora disease is a progressive myoclonus epilepsy with onset in the teenage years follo

157 Lafora disease is a progressive myoclonus epilepsy with onset typically in the second de

158 cidosis and stroke-like episodes (MELAS) and myoclonus epilepsy with ragged-red fibers (MERRF).

159 on but may also be seen in Lafora's disease (myoclonus epilepsy), cyanamide alcohol aversion therapy,

160 a disease, a fatal teenage-onset progressive myoclonus epilepsy, are caused by mutations in either th

161 E) resulted, at age 13 years, in progressive myoclonus epilepsy, with many inclusions present in almo

162 ata sets for cystic fibrosis and progressive myoclonus epilepsy.

163 disease, Friedreich ataxia, and progressive myoclonus epilepsy.

164 aluated for target symptoms (hallucinations, myoclonus, fatigue, and sedation), global well-being, an

165 ation, clumsy useless limb, limb apraxia and myoclonus, four had cortical sensory impairment and foca

166 presented with cerebellar ataxia and severe myoclonus from adolescence.

167 Patients with myoclonus had longer time to professional cardiopulmonar

168 cal analysis showed that the cats generating myoclonus hemorrhagic lesions in the retrorubral nucleus

169 enotype that includes severe infantile onset myoclonus, hypotonia, optic nerve abnormalities, dysphag

170 Myoclonus improved significantly after alcohol intake (p

171 play a significant role in the generation of myoclonus in a rat model of posthypoxic myoclonus.

172 ce (PVG) in post-hypoxic rats that developed myoclonus in response to auditory stimuli.

173 VG significantly reduced auditory stimulated myoclonus in the post-hypoxic rats.

174 tor antagonists would exacerbate posthypoxic myoclonus in this animal model.

175 sessment of patients with suspected cortical myoclonus in whom myoclonic EMG bursts repeat rhythmical

176 spiratory failure (fatal in 1 case), startle myoclonus (in 2 unrelated cases), axial rigidity, and Pa

177 The assessment of myoclonus includes an initial screening for those causes

178 Myoclonus is a far less common problem.

179 Post-hypoxic myoclonus is a movement disorder characterized by brief,

180 PRETATION: We propose that familial cortical myoclonus is a novel movement disorder that may be cause

181 gressive encephalomyelitis with rigidity and myoclonus is characterized by rigidity, painful muscle s

182 Myoclonus is characterized by sudden, brief involuntary

183 l discharge was noted in 9% of patients with myoclonus, less frequently in myoclonus with epileptifor

184 episodes), dryness of mouth (two episodes), myoclonus like activity of eyelids (four episodes), ocul

185 ve, motor, and sensory examinations, tremor, myoclonus, local sensory symptoms, symptoms at the expos

186 The sudden, shock-like jerks which define myoclonus may be highly disabling, and when they persist

187 gressive encephalomyelitis with rigidity and myoclonus (n = 1).

188 (n = 14), or extrapyramidal (n = 12) signs, myoclonus (n = 12), visual disturbance (n = 9), and akin

189 The remaining patients had subcortical myoclonus (n = 2, 3%) or other patterns (n = 7, 11%).

190 mes (transverse myelitis [n = 1], opsoclonus myoclonus [n = 1]).

191 signs was decreased, and the development of myoclonus occurred later among patients with APOE epsilo

192 ld a higher percentage of good outcomes, but myoclonus of itself should not be considered a sign of f

193 bstrate of the clinical manifestations (i.e. myoclonus) of the photoparoxysmal response.

194 pite circumstantial evidence that opsoclonus-myoclonus (OM) is often immune mediated, no specific aut

195 Myoclonus, one of the most common involuntary movement d

196 re brainstem syndrome (including opsoclonus, myoclonus, or both), cerebellar syndrome, myelopathy, pe

197 No patients with Pattern 1, subcortical myoclonus, or other patterns survived with favorable out

198 G) phenotypes of early postanoxic multifocal myoclonus (PAMM) that develop after cardiac arrest.

199 the processes underlying different types of myoclonus, particularly cortical forms.

200 Myoclonus presents as a sudden brief jerk caused by invo

201 g Delirium Screening Scale (NuDESC), Unified Myoclonus Rating Scale (UMRS), Functional Assessment of

202 evaluation of patients included the Unified Myoclonus Rating Scale and Burke-Fahn-Marsden Dystonia R

203 clinical rating scales including the Unified Myoclonus Rating Scale and the Burke-Fahn-Marsden Dyston

204 Myoclonus remains the commonest movement disorder associ

205 Variants in the LIMP-2 gene cause action myoclonus-renal failure syndrome and also have been link

206 Myoclonus, rigidity and hallucinations were more frequen

207 The myoclonus scores for the posthypoxic rats treated with m

208 e sum of four dehydration symptoms (fatigue, myoclonus, sedation and hallucinations, 0 = best and 40

209 ra bodies and rescues the neurodegeneration, myoclonus, seizure susceptibility, and behavioral abnorm

210 ear gaze palsy, hypothalamic manifestations, myoclonus, seizures, ataxia, or OMM, especially when tis

211 ive or behavioural symptoms, and presence of myoclonus, seizures, pyramidal signs, extrapyramidal sig

212 es such as limbic encephalitis or opsoclonus-myoclonus should always raise suspicion of a paraneoplas

213 The motor cortex is the most commonly shown myoclonus source, but origins from subcortical areas, br

214 horea, ballism, athetosis, dystonia, tremor, myoclonus, stereotypies, and akathisia.

215 ers include tremors, dystonia, chorea, tics, myoclonus, stereotypies, restless legs syndrome, and var

216 rvations establish the etiology of sustained myoclonus (sudden involuntary muscle movements) and earl

217 A neurophysiological study of the myoclonus suggested a cortical origin.

218 Most studies on opsoclonus-myoclonus syndrome (OMS) in adults are based on small ca

219 ic cerebellar degeneration, and 1 opsoclonus-myoclonus syndrome).

220 2 patients recovering from viral opsoclonus-myoclonus syndrome, comparing saccadic-vergence response

221 t for Parkinson tremor and rhythmic cortical myoclonus, the discovery of drugs for tremor disorders h

222 mands only and abnormal movements, including myoclonus, tongue and orofacial dyskinesias, and opsoclo

223 inherited disorders manifesting with action myoclonus, tonic-clonic seizures and ataxia.

224 Myoclonus, tremor, and ethanol hypersensitivity are only

225 Symptoms included agitation, confusion, myoclonus, tremor, and seizures (1 case with prominent s

226 nervous system hyperexcitability (agitation, myoclonus, tremor, seizures), pleocytosis, and frequent

227 Epilepsy of progressive myoclonus type 2 gene A (EPM2A) encodes a dual specifici

228 large, 4-generation family with a history of myoclonus underwent careful questioning, examination, an

229 bnormal nuclear envelopes, motor deficits or myoclonus, we produced paternally inherited striatum-spe

230 tient had severe axial and limb rigidity and myoclonus, which partially improved after chemotherapy a

231 Fifteen patients with eyelid myoclonus with absences (EMA, Jeavons syndrome), 14 pati

232 num toxin is also being introduced for focal myoclonus with encouraging results.

233 patients with myoclonus, less frequently in myoclonus with epileptiform activity (2% vs 15%; p < 0.0

234 Electroencephalography demonstrated myoclonus with epileptiform activity in 209 of 374 (55%)

235 Patients with myoclonus with good outcome were younger (53.7 vs 62.7 y

236 family suffering from adult onset, cortical myoclonus without associated seizures.

237 eizures that were initially considered to be myoclonus without cognitive decline.