ライフサイエンスコーパス: dystonia

1 tic cause of primary isolated dystonia (DYT2 dystonia).

2 schizophrenia, are frequent in patients with dystonia.

3 entified 25 cases of lesion-induced cervical dystonia.

4 in the genetic neuromuscular disease primary dystonia.

5 ctivity in patients with idiopathic cervical dystonia.

6 ong theta band event-related connectivity in dystonia.

7 pe focal motor epilepsy and exercise-induced dystonia.

8 modulation that may be broadly applicable in dystonia.

9 fit in with the proposed 'network model' of dystonia.

10 erogeneous lesion locations causing cervical dystonia.

11 onia, with less clinical impact on laryngeal dystonia.

12 onged ocSSRT is associated with PD and focal dystonia.

13 manifest and a causative level that triggers dystonia.

14 ole for perturbed calcium signalling in DYT2 dystonia.

15 in the immature cerebellum failed to produce dystonia.

16 large population of patients with laryngeal dystonia.

17 patients with and without family history of dystonia.

18 se, particularly Parkinson-like syndrome and dystonia.

19 alopathy with cerebellar atrophy, ataxia and dystonia.

20 ation in the pathogenesis of childhood-onset dystonia.

21 ptoms of the early onset of Parkinsonism and Dystonia.

22 uron functions that can promote the onset of dystonia.

23 dy how GNAL haplodeficiency is implicated in dystonia.

24 different phenotypes and genotypes of focal dystonia.

25 definite and 1 with probable dopa-responsive dystonia.

26 the basal ganglia, was sufficient to induce dystonia.

27 ed prominent cervical, cranial and laryngeal dystonia.

28 monogenic cause of early onset, generalized dystonia.

29 sinADeltaE could serve as a cure for primary dystonia.

30 egrator, by modulating feedback, could treat dystonia.

31 19 [19%] of 98) or isolated (16 [4%] of 388) dystonia.

32 causes for the major clinical categories of dystonia.

33 etard or prevent symptom development in DYT1 dystonia.

34 tients with inherited or idiopathic isolated dystonia.

35 individual with infantile-onset generalized dystonia.

36 he product of another gene causing monogenic dystonia.

37 p brain stimulation for medically refractory dystonia.

38 tients with inherited or idiopathic isolated dystonia.

39 neck for hand (12.8%) and laryngeal (15.8%) dystonia.

40 nal eIF2alpha pathway in the pathogenesis of dystonia.

41 ation approaches for Parkinson's disease and dystonia.

42 vement in a neurodevelopmental disorder with dystonia.

43 uding childhood absence epilepsy, ataxia and dystonia.

44 or pathophysiology to fully understand focal dystonias.

45 creasingly recognized in patients with focal dystonias.

46 manifestations of isolated adult-onset focal dystonias.

47 DBS outcomes among the most common monogenic dystonias.

48 GPi DBS outcomes vary across monogenic dystonias.

49 Across all categories of dystonia, 104 (65%) of the 160 detected variants affecte

50 rved in 50% of blepharospasm, 8% of cervical dystonia, 17% of hand dystonia and 16% of laryngeal dyst

51 Dystonia 6 (DYT6) is an autosomal dominant dystonia caus

52 482 patients; n(Parkinson disease) = 303; n(dystonia) = 64; n(tremor) = 39; n(treatment-resistant de

53 Seven studies comprising 144 patients with dystonia (78, generalised; 34, segmental; and 32, focal

54 asticity (82%, median onset = 15 months) and dystonia (82%, 18 months).

55 , stiff limbs and tremor that is observed in dystonia, a debilitating movement disease.

56 ground level that predisposes individuals to dystonia, a disease-related level that is evident only w

57 indicate striatal cholinergic dysfunction in dystonia, a movement disorder typically resulting in twi

58 We explored this possibility in DYT1 dystonia, a neurodevelopmental movement disorder caused

59 The most common cause of early onset primary dystonia, a neuromuscular disease, is a glutamate deleti

60 le for deficient eIF2alpha signaling in DYT1 dystonia, a rare inherited generalized form, through a g

61 the pathophysiological cascade that leads to dystonia: a background level that predisposes individual

62 tcomes between DYT-TOR1A and other monogenic dystonias, adjusting for age and disease duration and (i

63 rates and patterns differ significantly with dystonia aetiology and phenotype.

64 lled in the Dystonia Coalition with isolated dystonia affecting only the neck, upper face, hand or la

65 S complex dysfunction in the pathogenesis of dystonia, although variants in different subunits displa

66 ospasm, 8% of cervical dystonia, 17% of hand dystonia and 16% of laryngeal dystonia cases.

67 with three different forms of isolated focal dystonia and 220 healthy controls.

68 sequenced the exomes of 764 individuals with dystonia and 346 healthy parents who were recruited betw

69 e enrolled and 87 datasets (43 with cervical dystonia and 44 with generalized dystonia) were included

70 at 9-24 months of age followed by seizures, dystonia and acquired microcephaly.

71 e progressive motor dysfunction with tremor, dystonia and ataxia seen in H-ABC.

72 characterised by sensorineural hearing loss, dystonia and blindness.

73 der characterised by progressive generalised dystonia and brain iron accumulation.

74 tracted: (1) a hyperkinetic score, combining dystonia and chorea, and (2) a hypokinetic score, combin

75 In DCP, two major movement disorders, dystonia and choreoathetosis, are present together most

76 ty Maps showed a striking difference between dystonia and controls, with particularly strong theta ba

77 eptive stimulus in sixteen young people with dystonia and eight controls.

78 ith spastic tetraparesis, severe generalized dystonia and intellectual impairment, sharing a unique b

79 undergoing deep brain stimulation (DBS) for dystonia and investigate whether GPi and GPe firing rate

80 ssociated with dystonic symptoms in cervical dystonia and may be a useful biomarker for adaptive clos

81 rkinetic movement disorders (41%), including dystonia and myoclonus as presenting symptoms.

82 for blepharospasm, hand (3.5%) for cervical dystonia and neck for hand (12.8%) and laryngeal (15.8%)

83 r functional relationships, and test whether dystonia and neuropsychiatric disorders share a genetic

84 cits in neurological diseases, such as focal dystonia and Parkinson's disease, and possibly prompts f

85 tigated the prevalence and genetic causes of dystonia and parkinsonism as well as radiological findin

86 C6A3) cause a syndrome of infantile/juvenile dystonia and parkinsonism.

87 ight into the brain regions causing cervical dystonia and possible treatment targets.

88 sults mechanistically link multiple forms of dystonia and put forth a new overall cellular mechanism

89 mouse and found that this approach produced dystonia and repetitive, myoclonic-like, jerking movemen

90 including hypotonia, hyper-reflexia, ataxia, dystonia and significant white matter abnormalities, the

91 y, including 5 patients with dopa-responsive dystonia and skeletal and/or eye abnormalities, from a U

92 nfancy with severe irritability, followed by dystonia and stagnation of development.

93 a neurodegenerative disease with adult onset dystonia and subsequent parkinsonism.

94 gical subcortical abnormalities in myoclonus-dystonia and their modulation by alcohol administration.

95 lack of diagnostic biomarkers of functional dystonia and tics, where clinical diagnosis is often als

96 ibited progressive neurodevelopmental delay, dystonia, and a unique profile of neurotransmitter defic

97 s (present in 44%) included choreoathetosis, dystonia, and ataxia.

98 e convergence across idiopathic and acquired dystonia, and identify a network target for dystonia tre

99 e in Parkinson disease, essential tremor and dystonia, and is also under active investigation for oth

100 ical symptoms of AADC deficiency (hypotonia, dystonia, and oculogyric crisis), who were older than 24

101 ariants in 11 genes not previously linked to dystonia, and propose a predictive clinical score that c

102 anxiety severity vary by onset site of focal dystonia, and this variation is not explained by differe

103 Most cases of cervical dystonia are idiopathic, with no obvious cause, yet some

104 spontaneous SPN discharge related to PD and Dystonia are likely amplified by basal ganglia downstrea

105 es that psychiatric symptoms associated with dystonia are likely to be intrinsic to its pathophysiolo

106 rms, the cellular mechanisms underlying most dystonias are currently unknown.

107 Breaking with the empirical concept of dystonia as a basal ganglia disorder, we discovered larg

108 onstitutes an important step toward defining dystonia as a large-scale network disorder, understandin

109 family with co-occurrence of dopa-responsive dystonia as well as skeletal and eye abnormalities (ie,

110 is remains unknown for most genetic forms of dystonia, as does its genetic and biological relationshi

111 ch likely contributes to the dopa-responsive dystonia, as well as a deletion of BMP4 as a potential c

112 To determine the cellular specificity of dystonia-associated genes in the brain, single-nuclear t

113 rs in the co-expression modules enriched for dystonia-associated genes indicates that psychiatric sym

114 In conclusion, multiple dystonia-associated genes interact and contribute to pat

115 t whether co-expression modules enriched for dystonia-associated genes significantly contribute to th

116 Dystonia-associated genes were significantly enriched in

117 cellular specificity of all currently known dystonia-associated genes, predict their functional rela

118 To identify functional relationships among dystonia-associated genes, we determined the enrichment

119 s tested were significantly enriched for the dystonia-associated genes.

120 ch has a median age of onset of hypotonia or dystonia at 3 years, and L924P, with severe infantile ep

121 can have severe developmental delay without dystonia at least until mid-childhood.

122 ord stability of newly synthesized COX2 (the dystonia-ataxia syndrome protein COX20), a protein with

123 e of at least 3 points on the Barry-Albright Dystonia (BAD) scale, and no evidence of iron deficiency

124 th children developed impaired movement with dystonia, became nonambulatory and nonverbal, and exhibi

125 ease-related level that is evident only when dystonia becomes manifest and a causative level that tri

126 hophysiology of Parkinson's disease (PD) and Dystonia, but our understanding of the changes in the di

127 therapy for primary generalized and cervical dystonia, but therapeutic success is compromised by a no

128 Task-specific dystonia can be viewed as a corruption or loss of motor

129 However, lesions causing cervical dystonia can occur in multiple different brain locations

130 Isolated focal dystonia can spread to muscles beyond the initially affe

131 erefore, PDE10A changes in the DYT1 model of dystonia can upset the functional balance of basal gangl

132 a, 17% of hand dystonia and 16% of laryngeal dystonia cases.

133 Dystonia 6 (DYT6) is an autosomal dominant dystonia caused by loss-of-function mutations in the zin

134 n the cases that went undiagnosed, candidate dystonia-causing genes were prioritised in a stepwise wo

135 Our data demonstrate that the dystonia-causing mutations strongly affect hippocalcin c

136 e patients without dyskinesia (PD), cervical dystonia (CD) and writer's cramp.

137 ent attacks of abnormal movements, typically dystonia, chorea or a combination thereof, without loss

138 SLC30A10 and is characterized by Mn excess, dystonia, cirrhosis, and polycythemia.

139 Patients enrolled in the Dystonia Coalition with isolated dystonia affecting only

140 rolled in the Natural History Project of the Dystonia Coalition, were included in the analysis.

141 ry cortex were specific markers for cervical dystonia compared to lesions causing other neurological

142 s lower in patients affected by mouth/tongue dystonia compared with blepharospasm.

143 ystonia was diagnosed in accordance with the dystonia consensus definition.

144 The severity of dystonia correlated with botulinum toxin treatment for p

145 3-Methylglutaconic aciduria, dystonia-deafness, hepatopathy, encephalopathy, Leigh-li

146 Improvements in gait dystonia decreased from 20.9% at 1 year to 16.2% at last

147 causal neuroanatomical substrate of cervical dystonia, demonstrate convergence across idiopathic and

148 le and potentially treatable form of genetic dystonia, demonstrating the crucial role of KMT2B in the

149 mprovement over the current 34% agreement on dystonia diagnosis between clinicians.

150 microstructural neural network biomarker for dystonia diagnosis from raw structural brain MRIs of 612

151 system atrophy (red flag features: orofacial dystonia, disproportionate antecollis, camptocormia and/

152 mpairment in patients with sporadic cervical dystonia, due to rare coding variation in the eIF2alpha

153 e motor outcomes were associated with longer dystonia duration and older age at dystonia onset in DYT

154 r age at dystonia onset in DYT-TOR1A, longer dystonia duration in DYT/PARK-TAF1 and younger age at dy

155 n across three mouse models of human genetic dystonia: DYT1, DYT6, and DYT25.

156 Myoclonus dystonia (DYT11) is a movement disorder caused by loss-o

157 Considering also that another dystonia, DYT16, involves a gene upstream of the eIF2alp

158 ied as the genetic cause of primary isolated dystonia (DYT2 dystonia).

159 hogenesis.SIGNIFICANCE STATEMENT Adult-onset dystonia DYT25 is caused by dominant loss-of-function mu

160 ons of the GNAL gene are a cause of isolated dystonia (DYT25) in patients.

161 n early-onset, progressive and often complex dystonia (DYT28).

162 ad phenotypic spectrum, ranging from primary dystonia (DYT4), isolated hypomyelination with spastic q

163 aura from posterior insula features of early dystonia, early tonic motor features, and sensorimotor a

164 duals with diagnostic variants in those with dystonia (either isolated or combined) with coexisting n

165 Patients with isolated focal dystonia evaluated within 5 years from symptom onset, en

166 resentations, including atypical patterns of dystonia evolution and a subgroup of patients with a non

167 r the body region affected when this type of dystonia first presents is associated with the severity

168 itial body region affected in isolated focal dystonia has differential risk and patterns of spread.

169 Patients with Parkinson's disease and focal dystonia have difficulty in generating and preventing mo

170 Early studies in focal dystonias have pointed to segregated changes in brain ac

171 ovement disorders, namely, essential tremor, dystonia, Huntington disease and other chorea syndromes,

172 ents with essential tremor (ET) and isolated dystonia (ID).

173 on average by 16.9 +/- 11.6 % from observed dystonia improvements.

174 gating with early onset isolated generalized dystonia in 5 patients of a Taiwanese family.

175 on the BAD scale (which measures severity of dystonia in eight body regions) and the score at month 1

176 lofen treatment is used for the treatment of dystonia in patients with severe dyskinetic cerebral pal

177 condition that occurs in isolation (isolated dystonia), in combination with other movement disorders

178 ers such as Parkinson's disease, tremor, and dystonia involves the placement of focal lesions or the

179 l ganglia, and put forward a hypothesis that dystonia is a basal ganglia disorder that can be induced

180 Dystonia is a brain disorder causing involuntary, often

181 Dystonia is a clinically and genetically heterogeneous c

182 ein-coupled receptors.SIGNIFICANCE STATEMENT Dystonia is a common and often disabling movement disord

183 Isolated focal dystonia is a debilitating movement disorder of unknown

184 Dystonia is a disorder of motor programmes controlling s

185 Task-specific dystonia is a form of isolated focal dystonia with the p

186 Dystonia is a movement disorder characterized by involun

187 Dystonia is a movement disorder characterized by involun

188 Dystonia is a movement disorder characterized by sustain

189 Cervical dystonia is a neurological disorder characterized by sus

190 Dystonia is a neurological disorder characterized by sus

191 Isolated dystonia is a neurological disorder of heterogeneous pat

192 Dystonia is a neurological movement disorder that forces

193 DYT1 dystonia is caused by an in-frame deletion of a glutamic

194 The childhood-onset motor disorder DYT6 dystonia is caused by loss-of-function mutations in the

195 Dystonia is often more pronounced and severe than choreo

196 The usual medical treatment of dystonia is pharmacotherapy with nonselective antagonist

197 in human patients with the laryngeal form of dystonia (LD) and healthy controls (both males and femal

198 in striatal neurons favor the appearance of dystonia-like movement alterations after oxotremorine.

199 to the interposed cerebellar nuclei reduced dystonia-like postures in these mice.

200 all, these findings advance our knowledge on dystonia, linking translational control pathways and cal

201 es a shared mechanism for different forms of dystonia, links for the first time known biological path

202 Dystonia manifested in 11 pediatric patients (92%), ofte

203 st whether lesion locations causing cervical dystonia map to a common brain network.

204 Genetic subtypes of dystonia may respond differentially to deep brain stimul

205 1 (C54Y/+) knock-in and Gnal (+/-) knock-out dystonia models and to determine the impact of sex.

206 The average improvement of dystonia motor score was 50.5 +/- 30.9% in cervical and

207 he most common causes of early-onset genetic dystonia, much remains to be understood about the full s

208 bnormal in patients with idiopathic cervical dystonia (n = 39) versus matched controls (n = 37).

209 ch as Parkinson's disease, essential tremor, dystonia, obsessive-compulsive disorder, and epilepsy, c

210 138 individuals with unresolved generalized dystonia of suspected genetic etiology, followed by addi

211 asmodic dysphonia (SD) is an incurable focal dystonia of the larynx that impairs speech and communica

212 s with a complex progressive childhood-onset dystonia, often associated with a typical facial appeara

213 Dystonia, often associated with Leigh syndrome, was the

214 patients with Parkinson's disease and focal dystonia (one-way ANOVA p < 0.001).

215 al clinical manifestation (n = 294), site of dystonia onset (n = 238), disease severity (n = 28), and

216 duration in DYT/PARK-TAF1 and younger age at dystonia onset in DYT-SGCE.

217 th longer dystonia duration and older age at dystonia onset in DYT-TOR1A, longer dystonia duration in

218 pression, anxiety and social anxiety vary by dystonia onset site and evaluate whether pain and dyston

219 ated families presented with childhood-onset dystonia, optic atrophy, and basal ganglia signal abnorm

220 imaging, usually associated with generalized dystonia or Leigh syndrome.

221 not RN) was directly associated with whether dystonia or parkinsonism will manifest at onset.

222 tion with other movement disorders (combined dystonia), or in the context of multisymptomatic phenoty

223 al ganglia circuits in a mouse model of DYT1 dystonia overexpressing mutant torsinA.

224 X-linked dystonia parkinsonism (XDP) is a neurodegenerative movem

225 myotrophic lateral sclerosis and rapid-onset dystonia parkinsonism, knowledge of their contribution t

226 rnating Hemiplegia of Childhood, Rapid-onset Dystonia Parkinsonism, or epilepsy.

227 X-linked dystonia-parkinsonism (XDP) is a neurodegenerative disea

228 X-linked dystonia-parkinsonism (XDP) is a neurodegenerative disea

229 l control pathways and calcium physiology to dystonia pathogenesis and identifying potential new phar

230 the first time known biological pathways to dystonia pathogenesis, and uncovers potential pharmacolo

231 t forth a new overall cellular mechanism for dystonia pathogenesis, impairment of eIF2alpha signaling

232 y, and clues about the mechanisms underlying dystonia pathogenesis.SIGNIFICANCE STATEMENT Adult-onset

233 Only recently has the notion that dystonia pathophysiology may lie in abnormalities of lar

234 , and executive control of motor commands in dystonia pathophysiology.

235 nic tremor group included primarily cervical dystonia patients with dystonic head tremor and the majo

236 nteraction were investigated in 17 myoclonus-dystonia patients with epsilon-sarcoglycan (SGCE) gene m

237 iPSC-derived cortical neurons from myoclonus-dystonia patients with mutations (W100G and R102X) in th

238 A total of 105 dystonia patients with pallidal deep brain stimulation w

239 ere validated in an independent cohort of 10 dystonia patients, where prediction and observed benefit

240 we demonstrate abnormal risk taking in DYT1 dystonia patients, which is correlated with disease seve

241 ecently diagnosed adult-onset isolated focal dystonia patients.

242 STATEMENT In DYT1 transgenic mouse model of dystonia, PDE10A, a key enzyme in cAMP and cGMP cataboli

243 hree affected patients, but exercise-induced dystonia persisted into adulthood in two.

244 nnectome-wide alterations that are linked to dystonia phenotype and genotype.

245 red by improvement in the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS-m) score (p=0.030).

246 cal assessments using the Burke-Fahn-Marsden Dystonia Rating Scale Motor Score (BFMMS) and Burke-Fahn

247 ase Rating Scale, and the Burke-Fahn-Marsden Dystonia Rating Scale) and generally lasted 1 to 4 hours

248 onus Rating Scale and the Burke-Fahn-Marsden Dystonia Rating Scale.

249 ity (as assessed by the Burke Fahn Marsden's Dystonia Rating Scales, BFMDRS-M and BFMDRS-D) was evide

250 he majority of people with suspected genetic dystonia remain undiagnosed after maximal investigation,

251 How these mutations cause dystonia remains unknown.

252 al neurons with SGCE mutations for myoclonus-dystonia research and, in more general terms, prompts th

253 nt of new therapeutics is a top priority for dystonia research.

254 c and symptomatic stages of DYT25-associated dystonia, respectively, and clues about the mechanisms u

255 c and symptomatic stages of DYT25-associated dystonia, respectively.

256 Three forms of isolated human dystonia result from mutations in the TOR1A (DYT1), THAP

257 may be challenging because of the following: dystonia resulting in difficulty in placing the patients

258 eted torsinA have failed to recapitulate the dystonia seen in patients, possibly due to differential

259 nia onset site and evaluate whether pain and dystonia severity account for any differences.

260 used for blepharospasm and hemifacial spasm, dystonia severity, and dose and frequency of botulinum t

261 is not explained by differences in pain and dystonia severity.

262 nial persisted after correcting for pain and dystonia severity.

263 Young people with dystonia show an exaggerated network response to a propr

264 lth Research, Guy's and St. Thomas' Charity, Dystonia Society UK, Action Medical Research, German Nat

265 ystrophy (leukodystrophy with spasticity and dystonia) spectrum.

266 ess clinical characteristics associated with dystonia spread.

267 In dystonia, such a physiomarker is missing.

268 : MEGDHEL syndrome is a progressive deafness-dystonia syndrome with frequent and reversible neonatal

269 also showed a trend towards higher values in dystonia than controls.

270 n of systemic disease (with earlier onset of dystonia) than those with missense variants.

271 the incidence of tremor as a core feature of dystonia that can affect body regions both symptomatic a

272 and characterized by involuntary jerking and dystonia that frequently improve after drinking alcohol.

273 genes have been linked to Mendelian forms of dystonia, the cellular, anatomical, and molecular basis

274 etected across these genetic models of human dystonia, the D2R-mediated paradoxical excitation of ChI

275 Although these mice do not exhibit dystonia, they show pronounced locomotor deficits reflec

276 nopathies, including progeria, myopathy, and dystonia, though the extent to which endogenous mechanic

277 tients with inherited or idiopathic isolated dystonia to evaluate the effects of DBS on physical and

278 r studies on genetically confirmed monogenic dystonia treated with GPi DBS documenting pre-surgical a

279 dystonia, and identify a network target for dystonia treatment.

280 apyramidal movement disorders (parkinsonism, dystonia, tremor, chorea, and restless legs syndrome) we

281 ther GPi and GPe firing rates differ between dystonia types.

282 -18.1 years, median 10.7) with the following dystonia types: 14 primary, 22 secondary Static and 8 pr

283 Half of the patients with periocular facial dystonias used alleviating maneuvers.

284 d by gait abnormalities, ataxia, dysarthria, dystonia, vertical gaze palsy, and cognitive decline.

285 ecture of the functional connectome in focal dystonia was analyzed in a large population of patients

286 Each individual with dystonia was diagnosed in accordance with the dystonia c

287 Dystonia was originally classified as a basal ganglia di

288 ve deep brain stimulation sites for treating dystonia were connected to these same cerebellar and som

289 th cervical dystonia and 44 with generalized dystonia) were included into the subsequent 'normative b

290 malities are specific to particular types of dystonia, whether a causal link exists between sensory a

291 riants implicated in early onset generalized dystonia, which can be dominantly or recessively inherit

292 n cervical and 58.2 +/- 48.8% in generalized dystonia, while 19.5% of patients did not respond to tre

293 ations is observed in patients with cervical dystonia who apply effective sensory tricks, suggesting

294 dly progressive childhood-onset parkinsonism-dystonia with distinctive brain magnetic resonance imagi

295 symptomatic phenotypes (isolated or combined dystonia with other neurological involvement).

296 ividuals experienced early onset progressive dystonia with predominant cervical, bulbar, orofacial, a

297 pecific dystonia is a form of isolated focal dystonia with the peculiarity of being displayed only du

298 d an overall accuracy of 98.8% in diagnosing dystonia, with a referral of 3.5% of cases due to diagno

299 erved for trunk (53.2%) and cervical (50.5%) dystonia, with less clinical impact on laryngeal dystoni

300 ough a caudocranial pattern into generalized dystonia, with prominent oromandibular, laryngeal and ce

301 g in 191 unrelated patients with unexplained dystonia yielded 2 unrelated Caucasian patients with an