ライフサイエンスコーパス: dystonia

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

2 ole for perturbed calcium signalling in DYT2 dystonia.

3 in the immature cerebellum failed to produce dystonia.

4 inally discuss its putative role in cervical dystonia.

5 torsinA causes the neurological disease DYT1 dystonia.

6 pecific dystonia within the wider concept of dystonia.

7 turbed lipid biology in childhood-onset DYT1 dystonia.

8 orsinA function causes the CNS disorder DYT1 dystonia.

9 and/or change in the pattern of the cervical dystonia.

10 large population of patients with laryngeal dystonia.

11 nnectivity in the beta band to patients with dystonia.

12 independent kindred affected by AR isolated dystonia.

13 gene, as well as for patients with cervical dystonia.

14 se to motion perception is disrupted in DYT1 dystonia.

15 ncluding GCH1 and TH cause l-DOPA-responsive dystonia.

16 s may also play a role in the development of dystonia.

17 nts with generalized, segmental, or cervical dystonia.

18 ory network in nine patients with idiopathic dystonia.

19 ination of non-epileptic myoclonic jerks and dystonia.

20 tremor in patients with adult-onset primary dystonia.

21 ntext and predicament of life with childhood dystonia.

22 - 7.0% in patients with predominantly phasic dystonia.

23 feature of patients with adult-onset primary dystonia.

24 velop early-onset disease have TOR1A-related dystonia.

25 ns are a newly recognized cause for combined dystonia.

26 ellar activity to the basal ganglia to cause dystonia.

27 patients with and without family history of dystonia.

28 pars interna in the treatment of generalised dystonia.

29 as necessary and sufficient for induction of dystonia.

30 with different types of adult-onset primary dystonia.

31 rly infantile-onset progressive parkinsonism dystonia.

32 n assessing tremulous patients without overt dystonia.

33 n may contribute to the pathogenesis of DYT1 dystonia.

34 se, particularly Parkinson-like syndrome and dystonia.

35 alopathy with cerebellar atrophy, ataxia and dystonia.

36 ation in the pathogenesis of childhood-onset dystonia.

37 ptoms of the early onset of Parkinsonism and Dystonia.

38 uron functions that can promote the onset of dystonia.

39 dy how GNAL haplodeficiency is implicated in dystonia.

40 different phenotypes and genotypes of focal dystonia.

41 definite and 1 with probable dopa-responsive dystonia.

42 the basal ganglia, was sufficient to induce dystonia.

43 ed prominent cervical, cranial and laryngeal dystonia.

44 sinADeltaE could serve as a cure for primary dystonia.

45 egrator, by modulating feedback, could treat dystonia.

46 manifestations of isolated adult-onset focal dystonias.

47 motor cortices of 20 pianists (10 with focal dystonia, 10 healthy controls) were electrically stimula

48 nt disorders, such as parkinsonism (12%) and dystonia (19%).

49 patients with isolated cervical or segmental dystonia (8 with [DYST-ARM] and 14 without [DYST] arm sy

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

51 This distinctive feature makes task-specific dystonia a particularly mysterious and fascinating neuro

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

53 Rodent models of DYT1 dystonia, a motor disorder caused by a single gene mutat

54 ists understand the etiology of DYT1 primary dystonia, a movement disorder caused by a single glutama

55 ) is one of the different forms of inherited dystonia, a neurological disorder characterized by invol

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

57 are the most common cause of DOPA-responsive dystonia, a rare disease that classically presents in ch

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

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

60 ring frequencies differed significantly with dystonia aetiology.

61 ole-exome sequencing in a recessive isolated dystonia-affected kindred, we identified disease-segrega

62 magnetic resonance imaging to study 10 DYT1 dystonia and 10 healthy control subjects at rest and dur

63 e-control study of 67 patients with cervical dystonia and 67 of their age-matched unaffected siblings

64 cally presents in childhood with generalized dystonia and a dramatic long-lasting response to levodop

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

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

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

68 underlie myoclonus-dystonia, dopa-responsive dystonia and deafness-dystonia syndrome.

69 magnetic resonance imaging to study primary dystonia and healthy volunteer subjects while they perfo

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

71 etic disorders such as Huntington's disease, dystonia and l-DOPA-induced dyskinesia in Parkinson's di

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

73 Isolated dystonia and Parkinson disease (PD) are disorders of the

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

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

76 hepatic and neurological deficits, including dystonia and parkinsonism.

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

78 Isolated dystonia and PD have physiologic overlap with respect to

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

80 role in elucidating the neural substrate for dystonia and should stimulate systematic neuropathologic

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

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

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

84 ber of genes underlying isolated or combined dystonia and there will be further new discoveries with

85 e important to recognize particular forms of dystonia and this includes syndromic associations.

86 some of the previously described hereditary dystonias and environmental risk factors and trends in t

87 ible for most early-onset autosomal dominant dystonia, and 90% of Ashkenazi Jews who develop early-on

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

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

90 writer's cramp, cranial dystonia, myoclonus dystonia, and off-state dystonia associated with Parkins

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

92 Adult onset primary torsion dystonia (AOPTD) is a poorly penetrant autosomal dominan

93 the molecular mechanisms underlying isolated dystonia are largely unknown.

94 rther studies of sensorimotor integration in dystonia are needed to better understand the pathophysio

95 pre- and postsynaptic defects that result in dystonia are not known.

96 ng neurobiological mechanisms that result in dystonia are poorly understood, and progress in the fiel

97 mechanisms by which mutations in THAP1 cause dystonia are unknown.

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

99 al common pathways in the pathophysiology of dystonia arising from disparate mutations.

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

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

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

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

104 dystonia, myoclonus dystonia, and off-state dystonia associated with Parkinson disease.

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

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

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

108 iatal dopamine depletion and DOPA-responsive dystonia, but also predisposes to nigrostriatal cell los

109 iatal dysfunction plays an important role in dystonia, but the striatal cell types that contribute to

110 n of this exon is pathognomonic for isolated dystonia by inducing a series of in-frame deletions in z

111 Dystonia can be effectively treated by pallidal deep bra

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

113 es when sodium pump function is restored and dystonia caused by partial block of sodium pumps can be

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

115 Our results demonstrate the impact of a dystonia-causing substitution mutation on stress-induced

116 M), also called 'sensory tricks' in cervical dystonia (CD).

117 kinson's disease,movement disorders, ataxia, dystonia, chorea, and Creutzfeldt-Jakob with and Jewish.

118 collected from 10 sites participating in the Dystonia Coalition, included description of localisation

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

120 s was also seen in patients with fixed/tonic dystonia compared with a phasic/dynamic dystonia phenoty

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

122 3-Methylglutaconic aciduria, dystonia-deafness, hepatopathy, encephalopathy, Leigh-li

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

124 Carers perceived dystonia deterioration in 168/279 (60.2%), stabilisation

125 o natural versus unnatural motion in primary dystonia differ from normal, we used functional magnetic

126 and genetic heterogeneity underlie myoclonus-dystonia, dopa-responsive dystonia and deafness-dystonia

127 a knock-in mouse model of l-DOPA-responsive dystonia (DRD) mice that recapitulates the human p.381Q>

128 A dystonia due to a TOR1A gene mutation is responsible for

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

130 Dystonia duration at referral was 4.75 years (3.0-10.33)

131 treated with bilateral STN DBS, with average dystonia duration of 10.5 years and Montreal Cognitive A

132 Age of onset of dystonia, duration of disease prior to surgery, and myoc

133 A recessively inherited form of early-onset dystonia DYT16 has been recently identified to arise due

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

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

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

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

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

139 Like other genetic primary dystonias, DYT6 patients have no characteristic neuropat

140 reatment of primary generalized or segmental dystonia, especially when due to mutation in the DYT1 ge

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

142 baseline to 3 months, assessed by two masked dystonia experts using standardised videos, analysed by

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

144 ry movements (ie, dyskinesia or worsening of dystonia; five vs one), and depression (one vs two) were

145 network, which is significantly enriched for dystonia genes.

146 ice characterized by ataxia, spasticity, and dystonia, hallmarks of brain-specific disease.

147 Primary dystonia has been associated with an underlying dysfunct

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

149 (AR) manner, often lumped together as "DYT2 dystonia," have appeared in the scientific literature fo

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

151 to increase risk of development of cervical dystonia in genetically predetermined individuals.

152 of the active phase, and improvement in the dystonia in response to both l-DOPA and trihexyphenidyl.

153 caused by sodium pump dysfunction underlies dystonia in this model of DYT12.

154 our unrelated pedigrees with DOPA-responsive dystonia in which pathogenic GCH1 variants were identifi

155 Reports of primary isolated dystonia inherited in an autosomal-recessive (AR) manner

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

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

158 Dystonia is a brain disorder causing involuntary, often

159 Isolated focal dystonia is a debilitating movement disorder of unknown

160 Isolated dystonia is a disorder characterized by involuntary twis

161 Dystonia is a disorder of motor programmes controlling s

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

163 Dystonia is a heterogeneous neurologic disorder characte

164 Dystonia is a movement disorder characterized by sustain

165 Dystonia is a neurological movement disorder that forces

166 e hypothesized that, similar to PD, isolated dystonia is associated with elevated cortical neuronal s

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

168 DYT6 dystonia is caused by mutations in THAP1 [Thanatos-assoc

169 Although primary dystonia is defined by its characteristic motor manifest

170 enology in patients with adult-onset primary dystonia is limited.

171 athophysiology underlying different types of dystonia is not yet understood.

172 Dystonia is often more pronounced and severe than choreo

173 for further studies to assess whether "DYT2 dystonia" is a genetically homogeneous condition or not.

174 a, the most common inherited form of primary dystonia, is a neurodevelopmental disease caused by a do

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

176 oss of function and the pathogenesis of DYT1 dystonia, leading us to investigate the role of the Caen

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

178 field has been hampered by the absence of a dystonia-like phenotype in animal models with genetic mo

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

180 We propose that dystonia-like symptoms result from lapses in descending

181 lity characteristic of this unique myoclonus-dystonia-like syndrome associated with cardiac arrhythmi

182 tion family with a unique dominant myoclonus-dystonia-like syndrome with cardiac arrhythmias, we iden

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

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

185 Myoclonus-dystonia (M-D) is a rare movement disorder characterized

186 Myoclonus-dystonia (M-D) is a very rare movement disorder, caused

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

188 our findings suggest that the development of dystonia may depend on a reduction in dopamine in combin

189 but importantly, overlap with those of other dystonia mouse models.

190 of tardive dystonia, writer's cramp, cranial dystonia, myoclonus dystonia, and off-state dystonia ass

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

192 Dystonia, often associated with Leigh syndrome, was the

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

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

195 Patients presenting with parkinsonism dystonia or a neurotransmitter profile characteristic of

196 racterized by recurrent and brief attacks of dystonia or chorea precipitated by sudden movements.

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

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

199 ween groups, with reduced fibre integrity in dystonia (P < 0.001).

200 miplegia of childhood (AHC), and rapid-onset dystonia parkinsonism (RDP) are caused by mutations of N

201 of Na(+)/K(+)-ATPase, cause both rapid-onset dystonia parkinsonism and alternating hemiplegia of chil

202 site III found in patients with rapid-onset dystonia parkinsonism or alternating hemiplegia of child

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

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

205 Despite recessive inheritance, X-linked dystonia-parkinsonism (Lubag disease) has also been desc

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

207 of the genetic changes specific for X-linked dystonia-parkinsonism are common in the Philippines, the

208 resence of all changes specific for X-linked dystonia-parkinsonism in genomic DNA.

209 atients with autosomal recessive early-onset dystonia-parkinsonism.

210 nsporter (DAT) cause a syndrome of infantile dystonia/parkinsonism.

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

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

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

214 ain extracellular matrix as a contributor to dystonia pathogenesis.

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

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

217 ACT and PACT-PKR interactions is enhanced in dystonia patient lymphoblasts, thereby leading to intens

218 g environmental exposure history in cervical dystonia patients and their similarly aged unaffected si

219 Cervical dystonia patients had a history, prior to symptom onset,

220 e effect of STN DBS on cognitive function in dystonia patients is less clear.

221 ed a retrospective cohort of 21 DYT1 primary dystonia patients treated for at least 1 year with bilat

222 ibodies against toxin from mice and cervical dystonia patients undergoing BoNT/A treatment revealed t

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

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

225 By univariate analysis, cervical dystonia patients, compared to their unaffected siblings

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

227 ties in postmortem striatal tissue from DYT1 dystonia patients.

228 ns in HPCA as a cause of AR primary isolated dystonia paves the way for further studies to assess whe

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

230 onic dystonia compared with a phasic/dynamic dystonia phenotype (p<0.001).

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

232 strate that conditional deletion of the DYT1 dystonia protein torsinA in embryonic progenitors of for

233 s previously associated with DOPA-responsive dystonia (Q110X, V204I, K224R and M230I) and seven of un

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

235 assessed using the Burke-Fahn-Marsden (BFM) Dystonia Rating Scale prior to surgery, 6 months after i

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

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

238 fested with either generalized or multifocal dystonia related to mutations in mitochondrial DNA, amon

239 How these mutations cause dystonia remains unknown.

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

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

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

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

244 Lesser benefit is generally seen in dystonia secondary to structural brain damage.

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

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

247 At 3 months, the reduction in dystonia severity was significantly greater with neurost

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

249 For each intervention the mean change in dystonia severity, number of patients studied, and evide

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

251 nial persisted after correcting for pain and dystonia severity.

252 Dystonia showed a progressive course, with increasing se

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

254 re reported, the most frequent of which were dystonia, speech disorder, and apathy.

255 n combined into a standardized probabilistic dystonia stimulation atlas (DSA).

256 Genetic screening of a further 367 isolated dystonia subjects revealed two additional recessive pedi

257 By contrast, in DYT1 dystonia subjects, activation was relatively greater dur

258 In dystonia, such a physiomarker is missing.

259 ther reduce dopamine signalling worsened the dystonia, suggesting that both receptors mediate the abn

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

261 tonia, dopa-responsive dystonia and deafness-dystonia syndrome.

262 be much less consequential in patients with dystonia than has been reported in PD.

263 er confirmation of cerebellar involvement in dystonia that has been recently reported using functiona

264 Patients with dystonia that is not adequately controlled with standard

265 results establish a genetic model of primary dystonia that is overtly symptomatic, and link torsinA h

266 man disorder, including reduced TH activity, dystonia that worsened throughout the course of the acti

267 mphasis has been placed on dominant isolated dystonia, the disorder is also transmitted as a recessiv

268 DYT1 dystonia, the most common inherited form of primary dyst

269 cates abnormal dopamine neurotransmission in dystonia, the precise nature of the pre- and postsynapti

270 By viewing task-specific dystonia through this new lens which considers the disor

271 s have related the motor features of primary dystonia to connectivity changes in cerebello-thalamo-co

272 clude disorders such as Parkinson's disease, dystonia, Tourette's syndrome, restless legs syndrome, a

273 solated predominantly cervical patients with dystonia treated with bilateral STN DBS, with average dy

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

275 Dystonia type 1 (DYT1) is a dominantly inherited neurolo

276 Dystonia type 1 (DYT1) is one of the different forms of

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

278 -18.1 years, median 10.7) with the following dystonia types: 14 primary, 22 secondary Static and 8 pr

279 the clinical effect of brain stimulation in dystonia up through December 31, 2014.

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

281 undergoing deep brain stimulation for severe dystonia using a specially designed amplifier allowing s

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

283 Two patients had PSP-like phenotypes with dystonia, vertical gaze slowness, dysexecutive syndrome,

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

285 Dystonia was originally classified as a basal ganglia di

286 was commonly associated with POLG mutations; dystonia was predominantly associated with mitochondrial

287 nsanguineous kindred affected by AR isolated dystonia, we identified homozygous mutations in HPCA, a

288 elective peripheral denervation for cervical dystonia were retrospectively analysed concerning surgic

289 significant connectivity changes in primary dystonia were situated in proximity to normal motion per

290 surgical option in the treatment of cervical dystonia when conservative measures fail.

291 s to test a circuit-level hypothesis of DYT1 dystonia, which predicts that expression of the DYT1 gen

292 l pathophysiological explanation in cervical dystonia, which proposed that the abnormalities of head

293 y decreased PAC in a subset of patients with dystonia who were studied before and during intraoperati

294 l-task performance in isolated patients with dystonia, who have less cognitive impairment and no deme

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

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

297 ic region of COL6A3 cause recessive isolated dystonia with underlying neurodevelopmental deficits and

298 ighting the unique features of task-specific dystonia within the wider concept of dystonia.

299 demonstrated early-onset segmental isolated dystonia without muscular disease.

300 o been reported for DBS treatment of tardive dystonia, writer's cramp, cranial dystonia, myoclonus dy