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Dystonia

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141. Youngest presenting patient with dystonia 24 and review of the literature (PubMed)

Youngest presenting patient with dystonia 24 and review of the literature Dystonia 24 was first reported in 2000 as an autosomal dominant cause of dystonia caused by variants in the ANO3 gene. Although many adults have been described with dystonia 24, since 2014, an increasing number of children have also been reported. Dystonia 24 should also be considered in the differential of a child with unexplained dystonia.

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2018 Clinical Case Reports

142. Spatial Integration of Somatosensory Inputs during Sensory-Motor Plasticity Phenomena Is Normal in Focal Hand Dystonia (PubMed)

Spatial Integration of Somatosensory Inputs during Sensory-Motor Plasticity Phenomena Is Normal in Focal Hand Dystonia Surround inhibition is a system that sharpens sensation by creating an inhibitory zone around the central core of activation. In the motor system, this mechanism probably contributes to the selection of voluntary movements, and it seems to be lost in dystonia. Objectives. To explore if sensory information is abnormally processed and integrated in focal hand dystonia (FHD (...) (SEPs) evoked by a dual nerve input.FHD had two main abnormalities: first, the amount of facilitation was larger than normal subjects; second, the spatial specificity was lost. The MU/(M + U) ∗ 100 ratio was similar in healthy subjects and in FHD patients, and the somatosensory integration was normal in this subset of patients. Conclusions. The inhibitory integration of somatosensory inputs and the somatosensory inhibition are normal in patients with focal dystonia as well as lateral surrounding

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2018 Neural plasticity

143. Validation of a Questionnaire for Distinguishing X-Linked Dystonia Parkinsonism From Its Mimics (PubMed)

Validation of a Questionnaire for Distinguishing X-Linked Dystonia Parkinsonism From Its Mimics Objectives: X-linked dystonia parkinsonism (XDP) is a neurodegenerative movement disorder endemic to the island of Panay in the Philippines. We undertook a population-based prevalence study to enumerate all cases of XDP in Panay. We first developed a 4-item questionnaire to distinguish XDP suspects from the general population. In the present study we aimed to revalidate this questionnaire

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2018 Frontiers in neurology

144. A Computational Model of Deep-Brain Stimulation for Acquired Dystonia in Children (PubMed)

A Computational Model of Deep-Brain Stimulation for Acquired Dystonia in Children The mechanism by which deep brain stimulation (DBS) improves dystonia is not understood, partly heterogeneity of the underlying disorders leads to differing effects of stimulation in different locations. Similarity between the effects of DBS and the effects of lesions has led to biophysical models of blockade or reduced transmission of involuntary activity in individual cells in the pathways responsible (...) for dystonia. Here, we expand these theories by modeling the effect of DBS on populations of neurons. We emphasize the important observation that the DBS signal itself causes surprisingly few side effects and does not normally appear in the electromyographic signal. We hypothesize that, at the population level, massively synchronous rhythmic firing caused by DBS is only poorly transmitted through downstream populations. However, the high frequency of stimulation overwhelms incoming dystonic activity

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2018 Frontiers in computational neuroscience

145. An unusual presentation of dystonia and chorea from intraventricular pneumocephalus (PubMed)

An unusual presentation of dystonia and chorea from intraventricular pneumocephalus Pneumocephalus is a common finding following intracranial procedures, typically asymptomatic and resolves within several days. However, in some cases, pneumocephalus presents with headache, encephalopathy, or symptoms of elevated intracranial pressure. Here, we present a case of iatrogenic tension pneumocephalus following endoscopic sinus surgery, presenting as abnormal involuntary movements resembling (...) a movement disorder with choreiform movements.A 67-year-old previously healthy male presented with new onset chorea and dystonia associated with headache, encephalopathy, and postural instability 4 days after undergoing endoscopic sinus surgery for chronic sinusitis and nasal polyps. Computed tomography showed prominent intraventricular pneumocephalus causing enlargement of the anterior horns of both lateral ventricles with lateral displacement of the basal ganglia nuclei and a bony defect in the skull

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2018 Surgical neurology international

146. Globus Pallidum DBS for Task-Specific Dystonia in a Professional Golfer (PubMed)

Globus Pallidum DBS for Task-Specific Dystonia in a Professional Golfer 30402336 2018 12 11 2018 12 11 2160-8288 8 2018 Tremor and other hyperkinetic movements (New York, N.Y.) Tremor Other Hyperkinet Mov (N Y) Globus Pallidum DBS for Task-Specific Dystonia in a Professional Golfer. 487 10.7916/D83X9Q9D Wagle Shukla Aparna A Department of Neurology, University of Florida, Center for Movement Disorders and Neurorestoration, Gainesville, FL, USA. Hu Wei W Department of Neurology, University (...) Letter Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't 2018 10 09 United States Tremor Other Hyperkinet Mov (N Y) 101569493 2160-8288 Dystonia, Focal, Task-Specific IM Deep Brain Stimulation methods Dystonic Disorders therapy Globus Pallidus physiology Golf injuries Humans Male Middle Aged Task-specific cervical dystonia deep brain stimulation globus pallidum golf yips Funding: None. Conflicts of Interest: The authors report no conflict of interest. Ethics Statement: This study

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2018 Tremor and Other Hyperkinetic Movements

147. Abnormal sensory gating in patients with different types of focal dystonias. (PubMed)

Abnormal sensory gating in patients with different types of focal dystonias. Movement execution in healthy individuals increases the somatosensory temporal discrimination threshold. These changes are a result of mechanisms of sensory gating at the subcortical level. Although the somatosensory temporal discrimination threshold is abnormally increased in patients with focal dystonias, the effect of movement execution on somatosensory temporal discrimination in dystonic patients is unknown.The (...) objective of this study was to determine whether somatosensory temporal discrimination threshold modulation induced by voluntary movement is normal in different forms of focal dystonia.We enrolled 71 dystonic patients (24 with blepharospasm, 31 with cervical dystonia, and 16 with focal hand dystonia) and 39 age-matched healthy participants. Paired stimuli for the somatosensory temporal discrimination threshold were triggered by movement execution at movement onset and at various time intervals

2018 Movement Disorders

148. Compound heterozygous mutations in the TH gene in a Chinese family with autosomal-recessive dopa-responsive dystonia: A case report. (PubMed)

Compound heterozygous mutations in the TH gene in a Chinese family with autosomal-recessive dopa-responsive dystonia: A case report. Autosomal-recessive dopa-responsive dystonia (DRD) is a rare clinical disorder presenting as bradykinesia, dystonia, tremor and even severe encephalopathy, and caused by tyrosine hydroxylase deficiency (THD). We report a case of compound heterozygous mutations in the TH gene in a Chinese family with autosomal-recessive DRD herein.A 16-month-old Chinese boy (...) presented with symptoms of movement disorder and growth retardation in his infant period.The genetic test revealed compound heterozygous mutations in the TH gene at c.457C>T and c.698G>A, which are pathogenic of DRD.The patient was administrated low-dose levodopa.The treatment resulted in the substantial improvement of dystonia. His long-term neurological outcome need follow-up for years.Gene mutation analysis is helpful and necessary to diagnose DRD and has important guiding significance

2018 Medicine

149. Basal ganglia and cerebellar pathology in X-linked dystonia-parkinsonism. (PubMed)

Basal ganglia and cerebellar pathology in X-linked dystonia-parkinsonism. X-linked dystonia-parkinsonism is a neurodegenerative movement disorder characterized by adult-onset dystonia combined with parkinsonism over the disease course. Previous imaging and pathological findings indicate exclusive striatal atrophy with predominant pathology of the striosomal compartment in the dystonic phase of X-linked dystonia-parkinsonism. The striosome occupies 10-15% of the entire striatal volume (...) and the density of striosomes follows a rostrocaudal gradient with the rostral striatum being considered striosome-rich. Recent quantitative MRI analyses provided evidence for an additional involvement of the white matter and the pallidum. In this study, we aimed to (i) disentangle the degree of atrophy in the different subdivisions of the striatum; (ii) investigate changes of cortical morphology; and (iii) elucidate the role of the cerebellum in X-linked dystonia-parkinsonism. T1-weighted MRI scans were

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2018 Brain

150. Parkinsonian signs in patients with cervical dystonia treated with pallidal deep brain stimulation. (PubMed)

Parkinsonian signs in patients with cervical dystonia treated with pallidal deep brain stimulation. Pallidal deep brain stimulation is an established treatment in patients with dystonia. However, evidence from case series or uncontrolled studies suggests that it may lead in some patients to specific parkinsonian symptoms such as freezing of gait, micrographia, and bradykinesia. We investigated parkinsonian signs using the Movement Disorder Society Unified Parkinson's Disease Rating Scale motor (...) score by means of observer-blinded video ratings in a group of 29 patients treated with pallidal stimulation and a non-surgical control group of 22 patients, both with predominant cervical dystonia. Additional assessments included MRI-based models of volume of neural tissue activated to investigate areas of stimulation related to dystonic symptom control and those likely to induce parkinsonian signs as well as an EMG analysis to investigate functional vicinity of stimulation fields to the pyramidal

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2018 Brain

151. HPCA confirmed as a genetic cause of DYT2-like dystonia phenotype. (PubMed)

HPCA confirmed as a genetic cause of DYT2-like dystonia phenotype. HPCA (hippocalcin) is one of the underlying genetic causes of autosomal-recessively inherited forms of dystonia. Here, we describe two consanguineous Turkish DYT-HPCA families carrying the novel HPCA mutations.After detailed clinical and neurological examination, whole-exome sequencing was performed.Whole-exome sequencing analysis revealed two homozygous novel truncating mutations (p.W103* and p.P10PfsTer80) in the HPCA gene (...) in two unrelated Turkish dystonia families presenting with complex dystonia.After identification of HPCA as a genetic cause of DYT-HPCA-like dystonia by Charlesworth et al, this is the second report in the scientific literature that describes dystonia families harboring HPCA mutations. Our findings confirm that HPCA leads to recessively inherited dystonia. © 2018 International Parkinson and Movement Disorder Society.© 2018 International Parkinson and Movement Disorder Society.

2018 Movement Disorders

152. Sustained quality-of-life improvements over 10 years after deep brain stimulation for dystonia. (PubMed)

Sustained quality-of-life improvements over 10 years after deep brain stimulation for dystonia. Little is known about the quality of life of people with dystonia and DBS beyond 5 years. The objectives of this study were (1) to examine the long-term quality-of-life outcomes in a large cohort of people with dystonia and DBS, (2) to determine the incidence of stimulation-induced parkinsonism, and (3) to elucidate the potential long-term cognitive impact of DBS in this cohort.Fifty-four subjects (...) with dystonia and DBS for more than 5 years were contacted via social media and were offered to complete a quality-of-life survey comparing current-day life and life prior to DBS. The primary study outcomes were the Short Form survey, a parkinsonian symptoms questionnaire, the Telephone Montreal Cognitive Assessment, and the Measurement of Every Day Cognition.Thirty-seven of 54 subjects consented to the study. Average age was 39.7 ± 16.6 years, 16 were female, and 23 were DYT1+. Average time from

2018 Movement Disorders

153. Genome editing in induced pluripotent stem cells rescues TAF1 levels in X-linked dystonia-parkinsonism. (PubMed)

Genome editing in induced pluripotent stem cells rescues TAF1 levels in X-linked dystonia-parkinsonism. The most likely genetic cause of X-linked dystonia-parkinsonism, a neurodegenerative movement disorder endemic to the Philippines, is a 2672-bp-long retrotransposon insertion in intron 32 of the TAF1 gene. The objectives of this study were to investigate whether (1) TAF1 expression is altered in induced pluripotent stem cells and differentiated neuronal models and (2) excision (...) of the retrotransposon insertion restores normal TAF1 expression.Expression of TAF1 and its neuronal isoform were determined in induced pluripotent stem cells and in induced pluripotent stem cell-derived cortical neurons and spiny projection neurons using quantitative PCR. Genome editing-based excision of the retrotransposon insertion was performed on induced pluripotent stem cells from 3 X-linked dystonia-parkinsonism patients. Edited and unedited induced pluripotent stem cells from X-linked dystonia-parkinsonism

2018 Movement Disorders

154. Reversal of Status Dystonicus after Relocation of Pallidal Electrodes in DYT6 Generalized Dystonia (PubMed)

Reversal of Status Dystonicus after Relocation of Pallidal Electrodes in DYT6 Generalized Dystonia DYT6 dystonia can have an unpredictable clinical course and the result of deep brain stimulation (DBS) of the internal part of the globus pallidus (GPi) is known to be less robust than in other forms of autosomal dominant dystonia. Patients who had previous stereotactic surgery with insufficient clinical benefit form a particular challenge with very limited other treatment options available.A (...) pediatric DYT6 patient unexpectedly deteriorated to status dystonicus 1 year after GPi DBS implantation with good initial clinical response. After repositioning the DBS electrodes the status dystonicus resolved.This case study demonstrates that medication-resistant status dystonicus in DYT6 dystonia can be reversed by relocation of pallidal electrodes. This case highlights that repositioning of DBS electrodes may be considered in patients with status dystonicus, especially when the electrode position

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2018 Tremor and Other Hyperkinetic Movements

155. High motor variability in DYT1 dystonia is associated with impaired visuomotor adaptation (PubMed)

High motor variability in DYT1 dystonia is associated with impaired visuomotor adaptation For the healthy motor control system, an essential regulatory role is maintaining the equilibrium between keeping unwanted motor variability in check whilst allowing informative elements of motor variability. Kinematic studies in children with generalised dystonia (due to mixed aetiologies) show that movements are characterised by increased motor variability. In this study, the mechanisms by which high (...) motor variability may influence movement generation in dystonia were investigated. Reaching movements in the symptomatic arm of 10 patients with DYT1 dystonia and 12 age-matched controls were captured using a robotic manipulandum and features of motor variability were extracted. Given that task-relevant variability and sensorimotor adaptation are related in health, markers of variability were then examined for any co-variance with performance indicators during an error-based learning visuomotor

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2018 Scientific reports

156. How Many Types of Dystonia? Pathophysiological Considerations (PubMed)

How Many Types of Dystonia? Pathophysiological Considerations Dystonia can be seen in a number of different phenotypes that may arise from different etiologies. The pathophysiological substrate of dystonia is related to three lines of research. The first postulate a loss of inhibition which may account for the excess of movement and for the overflow phenomena. A second abnormality is sensory dysfunction which is related to the mild sensory complaints in patients with focal dystonias and may (...) be responsible for some of the motor dysfunction. Finally, there are strong pieces of evidence from animal and human studies suggesting that alterations of synaptic plasticity characterized by a disruption of homeostatic plasticity, with a prevailing facilitation of synaptic potentiation may play a pivotal role in primary dystonia. These working hypotheses have been generalized in all form of dystonia. On the other hand, several pieces of evidence now suggest that the pathophysiology may be slightly

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2018 Frontiers in neurology

157. Relationships between Serotonin Transporter Binding in the Raphe Nuclei, Basal Ganglia, and Hippocampus with Clinical Symptoms in Cervical Dystonia: A [11C]DASB Positron Emission Tomography Study (PubMed)

Relationships between Serotonin Transporter Binding in the Raphe Nuclei, Basal Ganglia, and Hippocampus with Clinical Symptoms in Cervical Dystonia: A [11C]DASB Positron Emission Tomography Study Alterations of the central serotonergic system have been implicated in the pathophysiology of dystonia. In this molecular imaging study, we assessed whether altered presynaptic serotonin transporter (SERT) binding contributes to the pathophysiology of cervical dystonia (CD), concerning both motor (...) with the caudate nucleus and hippocampus. These findings suggest that an altered serotonergic signaling in different brain areas in CD is related to different motor as well as NMS, which will further stimulate research on the role of serotonin in the pathogenesis of dystonia.

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2018 Frontiers in neurology

158. Early structural and functional plasticity alterations in a susceptibility period of DYT1 dystonia mouse striatum (PubMed)

Early structural and functional plasticity alterations in a susceptibility period of DYT1 dystonia mouse striatum The onset of abnormal movements in DYT1 dystonia is between childhood and adolescence, although it is unclear why clinical manifestations appear during this developmental period. Plasticity at corticostriatal synapses is critically involved in motor memory. In the Tor1a+/Δgag DYT1 dystonia mouse model, long-term potentiation (LTP) appeared prematurely in a critical developmental

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2018 eLife

159. Benefits of pallidal stimulation in dystonia are linked to cerebellar volume and cortical inhibition (PubMed)

Benefits of pallidal stimulation in dystonia are linked to cerebellar volume and cortical inhibition Clinical benefits of pallidal deep brain stimulation (GPi DBS) in dystonia increase relatively slowly suggesting slow plastic processes in the motor network. Twenty-two patients with dystonia of various distribution and etiology treated by chronic GPi DBS and 22 healthy subjects were examined for short-latency intracortical inhibition of the motor cortex elicited by paired transcranial magnetic (...) with the improvement of intracortical inhibition which was generally less effective in patients than in controls regardless of the DBS states. Importantly, good responders to GPi DBS showed a similar level of short-latency intracortical inhibition in the motor cortex as healthy controls whereas non-responders were unable to increase it. All these results support the multilevel impact of effective DBS on the motor networks in dystonia and suggest potential biomarkers of responsiveness to this treatment.

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2018 Scientific reports

160. Mutation in the GCH1 gene with dopa-responsive dystonia and phenotypic variability (PubMed)

Mutation in the GCH1 gene with dopa-responsive dystonia and phenotypic variability 29577080 2018 11 14 2376-7839 4 2 2018 Apr Neurology. Genetics Neurol Genet Mutation in the GCH1 gene with dopa-responsive dystonia and phenotypic variability. e231 10.1212/NXG.0000000000000231 Krim Elsa E Centre Hospitalier de Pau (E.K., M.B.), Service de Neurologie; Département de Neurosciences Cliniques (J.A., P.B., D.G.), Centre Hospitalier Universitaire de Bordeaux; Université de Bordeaux (J.A., P.B., D.G

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2018 Neurology: Genetics

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