18,018 results match your criteria Dystonias


Combined Dystonia With Self-Mutilation in 6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency: A Case Report.

Mov Disord Clin Pract 2019 Jan 8;6(1):81-82. Epub 2018 Nov 8.

Sobell Department of Motor Neuroscience and Movement Disorders University College London (UCL) Institute of Neurology London United Kingdom.

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http://dx.doi.org/10.1002/mdc3.12698DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6335374PMC
January 2019

Spectrum of Movement Disorders in 18p Deletion Syndrome.

Mov Disord Clin Pract 2019 Jan 6;6(1):70-73. Epub 2018 Dec 6.

Department of Neurology Antwerp University Hospital Antwerp Belgium.

Background: Deletion of the short arm of chromosome 18 leads to 18p deletion syndrome. Clinical features include short stature, facial dysmorphism, mental retardation, and several types of movement disorders.

Methods: The 18p deletion syndrome in our patient was diagnosed using karyotype analysis and confirmed by genome-wide single-nucleotide polymorphism array. Read More

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http://dx.doi.org/10.1002/mdc3.12707DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6335372PMC
January 2019

Spasmodic Dysphonia in Hereditary Spastic Paraplegia Type 7.

Mov Disord Clin Pract 2018 Mar-Apr;5(2):221-222. Epub 2018 Mar 2.

Department of Neurology Columbia University Medical Center New York NY.

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http://dx.doi.org/10.1002/mdc3.12580DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336413PMC

An Adult with Episodic Abnormal Limb Posturing.

Mov Disord Clin Pract 2018 Mar-Apr;5(2):215-217. Epub 2018 Mar 23.

Department of Neurology Hospital Prof. Doutor Fernando Fonseca Amadora Portugal.

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http://dx.doi.org/10.1002/mdc3.12587DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336369PMC
March 2018
1 Read

Holmes Tremor-Like Phenotype in DYT1 Dystonia.

Mov Disord Clin Pract 2018 Mar-Apr;5(2):206-208. Epub 2018 Feb 7.

Consultorio y Laboratorio de Neurogenética, Centro Universitario de Neurología "José María Ramos Mejía" y División Neurología, Hospital JM Ramos Mejía, Facultad de Medicina, UBA Argentina.

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http://dx.doi.org/10.1002/mdc3.12585DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336283PMC
February 2018

Rescue Sedation When Treating Acute Agitation in the Emergency Department With Intramuscular Antipsychotics.

J Emerg Med 2019 Feb 8. Epub 2019 Feb 8.

Department of Emergency Medicine, Hennepin County Medical Center, Minneapolis, Minnesota.

Background: Rapid treatment of agitation in the emergency department (ED) is critical to avoid injury to patients and providers. Treatment with intramuscular antipsychotics is often utilized, but there is a paucity of comparative effectiveness evidence available.

Objective: The purpose of this investigation was to compare the effectiveness of droperidol, olanzapine, and haloperidol for treating agitation in the ED. Read More

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http://dx.doi.org/10.1016/j.jemermed.2018.12.036DOI Listing
February 2019
1 Read

Quantified Activity Measurement for Medical Use in Movement Disorders through IR-UWB Radar Sensor.

Sensors (Basel) 2019 Feb 8;19(3). Epub 2019 Feb 8.

Department of Electronics and Computer Engineering, Hanyang University, 222 Wangsimini-ro, Seongdong-gu, Seoul 04763, Korea.

Movement disorders, such as Parkinson's disease, dystonia, tic disorder, and attention-deficit/hyperactivity disorder (ADHD) are clinical syndromes with either an excess of movement or a paucity of voluntary and involuntary movements. As the assessment of most movement disorders depends on subjective rating scales and clinical observations, the objective quantification of activity remains a challenging area. The purpose of our study was to verify whether an impulse radio ultra-wideband (IR-UWB) radar sensor technique is useful for an objective measurement of activity. Read More

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http://dx.doi.org/10.3390/s19030688DOI Listing
February 2019

Movement Disorders Emergencies.

Semin Neurol 2019 Feb 11;39(1):125-136. Epub 2019 Feb 11.

Movement Disorders Division, Department of Neurology, Johns Hopkins, Baltimore, Maryland.

Many acute and potentially life-threatening medical conditions have hyperkinetic or hypokinetic movement disorders as their hallmark. Here we review the clinical phenomenology, and diagnostic principles of neuroleptic malignant syndrome, malignant catatonia, serotonin syndrome, Parkinsonism hyperpyrexia, acute parkinsonism, acute chorea-ballism, drug-induced dystonia, and status dystonicus. In the absence of definitive lab tests and imaging, only a high index of clinical suspicion, awareness of at-risk populations, and variations in clinical presentation can help with diagnosis. Read More

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http://dx.doi.org/10.1055/s-0038-1677050DOI Listing
February 2019
2 Reads

A novel GTPCH deficiency mouse model exhibiting tetrahydrobiopterin-related metabolic disturbance and infancy-onset motor impairments.

Metabolism 2019 Feb 8. Epub 2019 Feb 8.

Department of Genetics and Endocrine, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, 510623, China. Electronic address:

Background: GTP cyclohydrolase I (GTPCH) deficiency could impair the synthesis of tetrahydrobiopterin and causes metabolic diseases involving phenylalanine catabolism, neurotransmitter synthesis, nitric oxide production and so on. Though improvements could be achieved by tetrahydrobiopterin and neurotransmitter precursor levodopa supplementation, residual motor and mental deficits remain in some patients. An appropriate GTPCH deficiency animal model with clinical symptoms, especially the motor impairments, is still not available for mechanism and therapy studies yet. Read More

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http://dx.doi.org/10.1016/j.metabol.2019.02.001DOI Listing
February 2019

The effect of CT-guided botulinum toxin injection on cervical dystonia, confirmed by nine-month follow-up using 18F-FDG PET/CT : A case report.

Am J Phys Med Rehabil 2019 Feb 7. Epub 2019 Feb 7.

Department of Rehabilitation Medicine, Seoul National University College of Medicine, Seoul National University Hospital, Seoul, Republic of Korea.

Although accurate targeting of the causative muscles is of paramount importance in the treatment of focal dystonia, this is often challenging due to distortion of the affected anatomical structures and difficulty in proper positioning of injections. We report a case of idiopathic cervical dystonia that was treated by CT-guided injection of botulinum toxin (BTX) into multiple deep muscles.Based on clinical presentation of combined torticollis and retrocollis, and needle electromyography (EMG) results, BTX was injected under EMG guidance. Read More

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http://dx.doi.org/10.1097/PHM.0000000000001156DOI Listing
February 2019
1 Read

Patterns, evolution, and severity of striatal injury in insidious- vs acute-onset glutaric aciduria type 1.

J Inherit Metab Dis 2019 Jan;42(1):117-127

Department of Neuroradiology, University of Heidelberg Medical Center, Im Neuenheimer Feld 400, 69120 Heidelberg, Germany.

Background: Striatal injury in patients with glutaric aciduria type 1 (GA1) results in a complex, predominantly dystonic, movement disorder. Onset may be acute following acute encephalopathic crisis (AEC) or insidious without apparent acute event.

Methods: We analyzed clinical and striatal magnetic resonance imaging (MRI) findings in 21 symptomatic GA1 patients to investigate if insidious- and acute-onset patients differed in timing, pattern of striatal injury, and outcome. Read More

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http://dx.doi.org/10.1002/jimd.12033DOI Listing
January 2019
1 Read

Mitochondrial disorders.

Ann Transl Med 2018 Dec;6(24):475

Children's Hospital of Philadelphia and Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.

Primary mitochondrial disorders are a group of clinically variable and heterogeneous inborn errors of metabolism (IEMs), resulting from defects in cellular energy, and can affect every organ system of the body. Clinical presentations vary and may include symptoms of fatigue, skeletal muscle weakness, exercise intolerance, short stature, failure to thrive, blindness, ptosis and ophthalmoplegia, nystagmus, hearing loss, hypoglycemia, diabetes mellitus, learning difficulties, intellectual disability, seizures, stroke-like episodes, spasticity, dystonia, hypotonia, pain, neuropsychiatric symptoms, gastrointestinal reflux, dysmotility, gastrointestinal pseudo-obstruction, cardiomyopathy, cardiac conduction defects, and other endocrine, renal, cardiac, and liver problems. Most phenotypic manifestations are multi-systemic, with presentations varying at different age of onset and may show great variability within members of the same family; making these truly complex IEMs. Read More

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http://dx.doi.org/10.21037/atm.2018.12.13DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6331360PMC
December 2018
1 Read

Current thinking in the health care management of children with cerebral palsy.

Med J Aust 2019 Feb 10. Epub 2019 Feb 10.

Royal Children's Hospital Melbourne, Melbourne, VIC.

Cerebral palsy is a developmental disorder of movement and posture which is often associated with comorbidities. While there is currently a limited range of evidence-based treatments that change the underlying pathology of cerebral palsy, there are many areas in which health care professionals can change the natural history of cerebral palsy and improve participation and quality of life for children with this condition. Early identification has become of paramount importance in the management of cerebral palsy, and it is hoped that it will allow earlier access to cerebral palsy interventions that may improve the natural history of the condition. Read More

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http://dx.doi.org/10.5694/mja2.12106DOI Listing
February 2019
1 Read

Deep Brain Stimulation of the Caudal Zona Incerta/Motor Thalamus for Post-Ischemic Dystonic Tremor of the Left Upper Limb. Case Report and Review of the Literature.

World Neurosurg 2019 Feb 7. Epub 2019 Feb 7.

Department of Neurosurgery, Fondazione Istituto Neurologico "C. Besta", via Celoria 11, 20133, Milan, Italy.

Background: Dystonic tremor (DT) is defined as a tremor occurring in a body region affected by dystonia. The pathophysiological mechanisms behind DT are supposed to involve anomalies affecting the thalamic pallidal-receiving area (for the dystonic component) and the ventralis intermedius nucleus (Vim)-cortical loop (for the tremor component). Interest in Posterior Subthalamic Area (PSA) stimulation for various types of involuntary abnormal movements (IAMs) has arisen from recent positive results in patients affected by tremor refractory to Vim deep brain stimulation (DBS). Read More

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http://dx.doi.org/10.1016/j.wneu.2019.01.183DOI Listing
February 2019
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Flunarizine related movement disorders: a nationwide population-based study.

Sci Rep 2019 Feb 8;9(1):1705. Epub 2019 Feb 8.

Department of Public Health and Institute of Public Health, Chung Shan Medical University, Taichung City, Taiwan.

Flunarizine (fz) causes side effects such as movement disorders (MDs). We investigated risk factors associated with fz-related MDs. Participants were recruited from the longitudinal health insurance databases and included patients who took fz for more than 1 month. Read More

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http://dx.doi.org/10.1038/s41598-018-37901-zDOI Listing
February 2019

Could Dissimilar Phenotypic Effects of Missense Mutations Reflect the Actin Conformational Change? Two Novel Mutations and Literature Review.

Mol Syndromol 2019 Jan 9;9(5):259-265. Epub 2018 Aug 9.

Department of Clinical Genetics, Linköping University Hospital, Linköping, Sweden.

The beta-actin gene encodes 1 of 6 different actin proteins. De novo heterozygous missense mutations in have been identified in patients with Baraitser-Winter syndrome (BRWS) and also in patients with developmental disorders other than BRWS, such as deafness, dystonia, and neutrophil dysfunction. We describe 2 different novel de novo missense mutations, c. Read More

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http://dx.doi.org/10.1159/000492267DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6362929PMC
January 2019
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Paroxysmal Sympathetic Hyperactivity with Dystonia Following Non-traumatic Bilateral Thalamic and Cerebellar Hemorrhage.

Neurocrit Care 2019 Feb 6. Epub 2019 Feb 6.

Department of Neurology, University of Miami Miller School of Medicine, 1120 NW 14th Street, 13th Floor, Miami, FL, 33136, USA.

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http://dx.doi.org/10.1007/s12028-019-00677-9DOI Listing
February 2019

Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy.

Nat Commun 2019 Feb 5;10(1):605. Epub 2019 Feb 5.

Department of Pediatrics B', Emek Medical Center, Afula, Israel.

Nuclear envelopathies comprise a heterogeneous group of diseases caused by mutations in genes encoding nuclear envelope proteins. Mutations affecting lamina-associated polypeptide 1 (LAP1) result in two discrete phenotypes of muscular dystrophy and progressive dystonia with cerebellar atrophy. We report 7 patients presenting at birth with severe progressive neurological impairment, bilateral cataract, growth retardation and early lethality. Read More

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http://www.nature.com/articles/s41467-019-08493-7
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http://dx.doi.org/10.1038/s41467-019-08493-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6363790PMC
February 2019
3 Reads

Teaching NeuroImages: An imaging clue for treatable early childhood-onset dystonia: Manganism.

Neurology 2019 Feb;92(6):e628-e629

From the Department of Neurology (H.P.), National Institute of Mental Health and Neurosciences, Bangalore; and the Departments of Pediatrics (S. Krishnamurthy, I.C., A.S.) and Neurology (S. Kumar GG, T.M.), St John's Medical College, Karnataka, India.

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http://dx.doi.org/10.1212/WNL.0000000000006881DOI Listing
February 2019
8.286 Impact Factor

Deep brain stimulation for dystonia-choreoathetosis in cerebral palsy: Pallidal versus thalamic stimulation.

Parkinsonism Relat Disord 2019 Jan 30. Epub 2019 Jan 30.

Department of Neurosurgery, Hannover Medical School, Germany.

Introduction: Dystonia-choreoathetosis is common in patients with cerebral palsy, and medical treatment is mostly unsatisfactory. Deep brain stimulation (DBS) of the globus pallidus internus (GPi) has shown some effect, but there is still a need to optimize treatment strategies. We aimed to assess whether the thalamic ventral intermediate nucleus (Vim) might be an alternative DBS target in dystonia-choreoathetosis. Read More

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http://dx.doi.org/10.1016/j.parkreldis.2019.01.029DOI Listing
January 2019
1 Read

The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiency.

Mol Genet Metab 2019 Jan 22. Epub 2019 Jan 22.

Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States. Electronic address:

Background: GALT deficiency is a rare genetic disorder of carbohydrate metabolism. Due to the decreased activity or absence of the enzyme galactose-1-phosphate uridylyltransferase (GALT), cells from affected individuals are unable to metabolize galactose normally. Lactose consumption in the newborn period could potentially lead to a lethal disease process with multi-organ involvement. Read More

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http://dx.doi.org/10.1016/j.ymgme.2019.01.016DOI Listing
January 2019
1 Read

Mandibular Bone Loss after Masticatory Muscles Intervention with Botulinum Toxin: An Approach from Basic Research to Clinical Findings.

Toxins (Basel) 2019 Feb 1;11(2). Epub 2019 Feb 1.

Institute for Research in Dental Sciences, Faculty of Dentistry, Universidad de Chile, Santiago 8380492, Chile.

The injection of botulinum toxin type A (BoNT/A) in the masticatory muscles, to cause its temporary paralysis, is a widely used intervention for clinical disorders such as oromandibular dystonia, sleep bruxism, and aesthetics (i.e., masseteric hypertrophy). Read More

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http://dx.doi.org/10.3390/toxins11020084DOI Listing
February 2019
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Role of ANO3 mutations in dystonia: A large-scale mutational screening study.

Parkinsonism Relat Disord 2019 Jan 2. Epub 2019 Jan 2.

Institute of Neurogenetics, University of Lübeck, Lübeck, Germany. Electronic address:

Background: The role of ANO3 variants as a monogenic cause of dystonia is still under debate because of its relatively high frequency also in controls.

Objective: To screen >1000 patients with movement disorders for rare ANO3 variants.

Methods: We searched for rare ANO3 variants in 729 dystonia and 294 Parkinson's disease (PD) patients using a gene panel. Read More

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http://dx.doi.org/10.1016/j.parkreldis.2018.12.030DOI Listing
January 2019

Trihexyphenidyl rescues the deficit in dopamine neurotransmission in a mouse model of DYT1 dystonia.

Neurobiol Dis 2019 Jan 30;125:115-122. Epub 2019 Jan 30.

Department of Pharmacology, Emory University School of Medicine, 101 Woodruff Circle, WMB 6304, Atlanta, GA 30322, USA; Department of Neurology, Emory University School of Medicine, 101 Woodruff Circle, WMB 6304, Atlanta, GA 30322, USA. Electronic address:

Trihexyphenidyl, a nonselective muscarinic receptor antagonist, is the small molecule drug of choice for the treatment of DYT1 dystonia, but it is poorly tolerated due to significant side effects. A better understanding of the mechanism of action of trihexyphenidyl is needed for the development of improved treatments. Because DTY1 dystonia is associated with both abnormal cholinergic neurotransmission and abnormal dopamine regulation, we tested the hypothesis that trihexyphenidyl normalizes striatal dopamine release in a mouse model of DYT1 dystonia using ex vivo fast scan cyclic voltammetry and in vivo microdialysis. Read More

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http://dx.doi.org/10.1016/j.nbd.2019.01.012DOI Listing
January 2019
1 Read

[Clinical characteristics and molecular pathogenesis of pantothenate kinase-associated neurodegenerative disease].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2019 Feb;36(2):175-178

Department of Pediatrics, West China Second University Hospital; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, Sichuan 610041, China.

Pantothenate kinase-associated neurodegenerative diseases is a type of neurodegeneration with brain iron accumulation characterized by excessive iron deposition in specific parts of the brain. The phenotypic spectrum includes classic and atypical PKAN. The clinical presentation may range from speech disorder to severe dystonia, dysphagia, mental retardation and retinal degeneration. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2019.02.021DOI Listing
February 2019
2 Reads

The role of sensory information in the pathophysiology of focal dystonias.

Nat Rev Neurol 2019 Jan 30. Epub 2019 Jan 30.

IRCCS Neuromed, Pozzilli, Italy.

Over the past few decades, abnormalities in sensory functions, such as tactile, proprioceptive and nociceptive processing, have been increasingly recognized in patients with focal dystonias. In this Review, we ask whether sensory system abnormalities are specific to particular types of dystonia, whether a causal link exists between sensory alterations and dystonic motor activity and how mechanisms underlying the sensory abnormalities fit in with the proposed 'network model' of dystonia. We suggest that alterations in the various sensory modalities participate at three different levels in the pathophysiological cascade that leads to dystonia: a background level that predisposes individuals to dystonia, a disease-related level that is evident only when dystonia becomes manifest and a causative level that triggers dystonia. Read More

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http://dx.doi.org/10.1038/s41582-019-0137-9DOI Listing
January 2019

Dystonic crises in dopa-responsive dystonia induced by energy drinks.

Pract Neurol 2019 Jan 30. Epub 2019 Jan 30.

Alfred Hospital, Melbourne, Victoria, Australia.

We present an interesting case of recurrent dystonic crises in dopa-responsive dystonia (DRD) likely induced by excessive consumption of aspartame-containing products, in particular sugar-free energy drinks. This has a strong practical value as acute presentations to the emergency department can be avoided in these susceptible individuals. Usual medical and dietary advice in the treatment of DRD would include the avoidance of high-dose phenylalanine-containing products, and to this we would advocate the avoidance of high-dose aspartame-containing products. Read More

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http://dx.doi.org/10.1136/practneurol-2018-001900DOI Listing
January 2019

Epidemiological and clinical aspects of a sample of Brazilian patients with primary dystonia and the impact of the new classification on their clinical evaluation.

Arq Neuropsiquiatr 2018 Dec;76(12):821-826

Universidade de São Paulo, Faculdade de Medicina de Ribeirão Preto, Departamento de Neurociência e Ciências do Comportamento, São Paulo SP, Brasil.

Dystonia is a relatively common movement disorder but some of its epidemiological and clinical aspects have not been well characterized in Brazilian patients. Also, a new clinical classification for the disorder has been proposed and its impact on clinical practice is unclear. We aimed to describe the clinical and demographic characteristics of a Brazilian series of patients with primary dystonia, to estimate its local prevalence, and to explore the impact of using a new classification for dystonia. Read More

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http://dx.doi.org/10.1590/0004-282X20180138DOI Listing
December 2018
1 Read

Recurrent Encephalopathy with Spinal Cord Involvement: An Atypical Manifestation of Aicardi-Goutières Syndrome.

Ann Indian Acad Neurol 2019 Jan-Mar;22(1):111-115

Division of Neuroradiology and Pediatric Radiology, University of Arkansas For Medical Sciences, Little Rock, Arkansas, USA.

Aicardi-Goutières syndrome (AGS) is a rare, genetic inflammatory disease due to mutations in any of the seven genes discovered to date (, and ). Clinical onset is seen most commonly or in infancy; irritability, feeding difficulties, jitteriness, microcephaly, abnormal movements, seizures, bone marrow suppression, and liver dysfunction are seen either during the neonatal age group or within the first few months of life with abrupt onset of neurologic regression and slowing of head growth. Diffusely abnormal white matters with swelling of frontal or temporal lobes, cerebral atrophy, and intracranial calcification are typical neuroradiologic abnormalities. Read More

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http://dx.doi.org/10.4103/aian.AIAN_12_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6327704PMC
January 2019
2 Reads

Diagnostic delay in Parkinson's disease caused by PRKN mutations.

Parkinsonism Relat Disord 2019 Jan 10. Epub 2019 Jan 10.

Edmond J. Safra Program in Parkinson's Disease, Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital, UHN, Toronto, Ontario, Canada; Division of Neurology, University of Toronto, Toronto, Ontario, Canada; Krembil Brain Institute, Toronto, Ontario, Canada. Electronic address:

Objective: To confirm that there is a diagnostic delay in Parkin-related Parkinson Disease and to explore possible factors causing such a delay.

Methods: We retrospectively analyzed our patients with mutations in the parkin RBR E3 ubiquitin protein ligase gene (PRKN). We collected a total of 34 patients and focused on 18 cases (14 homozygous, 4 compound heterozygous). Read More

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http://dx.doi.org/10.1016/j.parkreldis.2019.01.010DOI Listing
January 2019
1 Read

Craniocervical dystonia with levodopa-responsive parkinsonism co-segregating with a pathogenic ANO3 mutation in a Taiwanese family.

Parkinsonism Relat Disord 2019 Jan 24. Epub 2019 Jan 24.

Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2019.01.020DOI Listing
January 2019

Gene therapy improves motor and mental function of aromatic l-amino acid decarboxylase deficiency.

Brain 2019 Feb;142(2):322-333

Department of Pediatrics, Jichi Medical University, Shimotsuke, Tochigi, Japan.

In patients with aromatic l-amino acid decarboxylase (AADC) deficiency, a decrease in catecholamines and serotonin levels in the brain leads to developmental delay and movement disorders. The beneficial effects of gene therapy in patients from 1 to 8 years of age with homogeneous severity of disease have been reported from Taiwan. We conducted an open-label phase 1/2 study of population including adolescent patients with different degrees of severity. Read More

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http://dx.doi.org/10.1093/brain/awy331DOI Listing
February 2019
1 Read

Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region.

Epilepsia 2019 Jan 25. Epub 2019 Jan 25.

Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.

Objective: To characterize the phenotypic spectrum associated with GNAO1 variants and establish genotype-protein structure-phenotype relationships.

Methods: We evaluated the phenotypes of 14 patients with GNAO1 variants, analyzed their variants for potential pathogenicity, and mapped them, along with those in the literature, on a three-dimensional structural protein model.

Results: The 14 patients in our cohort, including one sibling pair, had 13 distinct, heterozygous GNAO1 variants classified as pathogenic or likely pathogenic. Read More

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http://dx.doi.org/10.1111/epi.14653DOI Listing
January 2019

Abnormal cerebellar connectivity and plasticity in isolated cervical dystonia.

PLoS One 2019 25;14(1):e0211367. Epub 2019 Jan 25.

Unidad de Trastornos del Movimiento, Servicio de Neurología y Neurofisiología Clínica, Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Seville, Spain.

There is increasing evidence that supports the role of the cerebellum in the pathophysiology of dystonia. We used transcranial magnetic stimulation to test the hypothesis that patients with cervical dystonia may have a disrupted cerebellar cortical connectivity at rest, and that cerebellar plasticity is altered too. We enrolled 12 patients with isolated cervical dystonia and 13 controls. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0211367PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6347195PMC
January 2019
4 Reads

The role of pallidum in the neural integrator model of cervical dystonia.

Neurobiol Dis 2019 Jan 22;125:45-54. Epub 2019 Jan 22.

Department of Neurology, Case Western Reserve University, Cleveland, OH, USA; Neurological Institute, University Hospitals, Cleveland, OH, USA; Neurology Service, Louis Stokes Cleveland VA Medical Center, Cleveland, OH, USA.. Electronic address:

Dystonia is the third most common movement disorder affecting three million people worldwide. Cervical dystonia is the most common form of dystonia. Despite common prevalence the pathophysiology of cervical dystonia is unclear. Read More

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http://dx.doi.org/10.1016/j.nbd.2019.01.011DOI Listing
January 2019
1 Read

Development of the clinical assessment scale in autoimmune encephalitis.

Ann Neurol 2019 Jan 24. Epub 2019 Jan 24.

Department of Neurology, Seoul National University Hospital, Seoul, South Korea.

Objective: There is no scale for rating the severity of autoimmune encephalitis (AE). In this study, we aimed to develop a novel scale for rating severity in patients with diverse AE syndromes and to verify the reliability and validity of the developed scale.

Methods: The key items were generated by a panel of experts and selected according to content validity ratios. Read More

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http://doi.wiley.com/10.1002/ana.25421
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http://dx.doi.org/10.1002/ana.25421DOI Listing
January 2019
9 Reads

[Professor ' clinical experience in the treatment of primary cervical dystonia].

Zhongguo Zhen Jiu 2018 Sep;38(9):985-8

Third School of Clinical Medicine, Zhejiang Chinese Medical University, Hangzhou 310053, China.

Professor ' clinical experience in the treatment of primary cervical dystonia based on the syndrome differentiation of TCM was explored preliminarily. Based on the disease identification of western medicine and the syndrome differentiation of TCM, in combination with the differentiations of meridians and collaterals of acupuncture, Professor proposes the three-dimensional system of diagnosis and treatment of acupuncture, named "disease differentiation, TCM syndrome differentiation and meridian differentiation". Regarding the diagnosis and treatment of primary cervical dystonia, the physical examination of nerve system, TCM syndrome differentiation and meridian differentiation are equally important. Read More

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http://dx.doi.org/10.13703/j.0255-2930.2018.09.020DOI Listing
September 2018
1 Read

Antipsychotics for patients with pain.

Korean J Pain 2019 Jan 2;32(1):3-11. Epub 2019 Jan 2.

Department of Anesthesia and Pain Medicine, Pusan National University, Busan, Korea.

Going back to basics prior to mentioning the use of antipsychotics in patients with pain, the International Association for the Study of Pain (IASP) definition of pain can be summarized as an unpleasant experience, composed of sensory experience caused by actual tissue damage and/or emotional experience caused by potential tissue damage. Less used than antidepressants, antipsychotics have also been used for treating this unpleasant experience as adjuvant analgesics without sufficient evidence from research. Because recently developed atypical antipsychotics reduce the adverse reactions of extrapyramidal symptoms, such as acute dystonia, pseudo-parkinsonism, akathisia, and tardive dyskinesia caused by typical antipsychotics, they are expected to be used more frequently in various painful conditions, while increasing the risk of metabolic syndromes (weight gain, diabetes, and dyslipidemia). Read More

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http://dx.doi.org/10.3344/kjp.2019.32.1.3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6333575PMC
January 2019
1 Read

Chemogenetic Targeting of Dorsomedial Direct-pathway Striatal Projection Neurons Selectively Elicits Rotational Behavior in Mice.

Neuroscience 2019 Jan 19;401:106-116. Epub 2019 Jan 19.

Molecular Neuropharmacology and Genetics Laboratory, Department of Neuroscience, Faculty of Health and Medical Sciences, University of Copenhagen, DK-2200 Copenhagen, Denmark. Electronic address:

The striatum of the basal ganglia is pivotal for voluntary movements and is implicated in debilitating movement disorders such as Parkinsonism and dystonia. Striatum projects to downstream nuclei through direct (dSPN) and indirect (iSPN) pathway projection neurons thought to exert opposite effects on movement. In rodent models of striatal function, unilateral dopamine deprivation induces ipsiversive rotational behavior. Read More

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http://dx.doi.org/10.1016/j.neuroscience.2019.01.013DOI Listing
January 2019
1 Read

Oromandibular dystonia, mental distress and oro-facial dysfunction-A follow-up 8-10 years after start of treatment with botulinum toxin.

J Oral Rehabil 2019 Jan 21. Epub 2019 Jan 21.

Clinical Neurophysiology and Dystonia Clinic, Department of Neurology, Bispebjerg University Hospital, Copenhagen, Denmark.

Background: Oromandibular dystonia (OMD) with involuntary jaw and tongue movements may be misdiagnosed as temporomandibular disorders (TMD) and because of the complex muscle activity and involvement of several small muscles, OMD is also considered difficult to treat.

Objectives: The aim was to evaluate OMD in patients 8-10 years after start of treatment with botulinum toxin (BoNT) by self-reported and standardised global scales and questionnaires.

Methods: Of 21 previously reported patients with OMD, 14 responded to a mail health questionnaire to describe the disease course and treatment effect as well as the overall impact of OMD by a visual analogue scale (VAS), the Patient Health Questionnaire (PHQ) for depression and anxiety, and the Jaw Functional Limitation Scale (JFLS). Read More

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http://dx.doi.org/10.1111/joor.12768DOI Listing
January 2019
2 Reads

Human Pluripotent Stem Cell-Derived Striatal Interneurons: Differentiation and Maturation In Vitro and in the Rat Brain.

Stem Cell Reports 2019 Feb 17;12(2):191-200. Epub 2019 Jan 17.

Neuroscience and Mental Health Research Institute, School of Medicine, Cardiff University, Cardiff CF24 4HQ, UK; School of Biosciences, Cardiff University, Cardiff CF10 3AX, UK. Electronic address:

Striatal interneurons are born in the medial and caudal ganglionic eminences (MGE and CGE) and play an important role in human striatal function and dysfunction in Huntington's disease and dystonia. MGE/CGE-like neural progenitors have been generated from human pluripotent stem cells (hPSCs) for studying cortical interneuron development and cell therapy for epilepsy and other neurodevelopmental disorders. Here, we report the capacity of hPSC-derived MGE/CGE-like progenitors to differentiate into functional striatal interneurons. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S22136711183053
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http://dx.doi.org/10.1016/j.stemcr.2018.12.014DOI Listing
February 2019
5 Reads

Evaluation of anxiety and depression scales and quality of LIFE in cervical dystonia patients on botulinum toxin therapy and their relatives.

Neurol Sci 2019 Jan 18. Epub 2019 Jan 18.

Medical Faculty, Department of Biostatistics, Uludag University, Bursa, Turkey.

Objective: In this study, quality of life and psychiatric comorbid disorders were investigated in patients with cervical dystonia and their spouses and we also investigated the effect of botulinum toxin (BTX) treatment on these parameters.

Material And Method: Thirty patients with cervical dystonia (CD) on BTX treatment and their spouses (n = 30) were included. Beck Depression Scale (BDS), State-Trait Anxiety Inventory I and II (STAI-I, STAI-II), Hospital Anxiety Scale (HAS), Hospital Depression Scale (HDS) for psychiatric comorbid disease assessment, Toronto Western Spasmodic Torticollis Scale (TWSTRS) for disease activity assessment, and Craniocervical Dystonia Questionnaire (CDQ-24), Cervical Dystonia Impact Profile (CDIP-58), and Short Form 36 (SF-36) questionnaires for quality of life assessment were used. Read More

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http://dx.doi.org/10.1007/s10072-019-3719-9DOI Listing
January 2019
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Clinical phenotype, in silico and biomedical analyses, and intervention for an East Asian population-specific c.370G>A (p.G124S) COQ4 mutation in a Chinese family with CoQ10 deficiency-associated Leigh syndrome.

J Hum Genet 2019 Jan 18. Epub 2019 Jan 18.

United Diagnostic and Research Center for Clinical Genetics, School of Public Health of Xiamen University & Xiamen Maternal and Child Health Hospital, Xiamen, Fujian, 361003, China.

COQ4 mutations have recently been shown to cause a broad spectrum of mitochondrial disorders in association with CoQ10 deficiency. Herein, we report the clinical phenotype, in silico and biochemical analyses, and intervention for a novel c.370 G > A (p. Read More

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http://www.nature.com/articles/s10038-019-0563-y
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http://dx.doi.org/10.1038/s10038-019-0563-yDOI Listing
January 2019
6 Reads

A review of basal ganglia circuits and physiology: Application to deep brain stimulation.

Parkinsonism Relat Disord 2019 Jan 9. Epub 2019 Jan 9.

Department of Neuroscience, University of Florida, Gainesville, FL, USA; Department of Neurology, Fixel Center for Neurological Diseases, University of Florida, Gainesville, FL, USA.

Introduction: Drawing on the seminal work of DeLong, Albin, and Young, we have now entered an era of basal ganglia neuromodulation. Understanding, re-evaluating, and leveraging the lessons learned from neuromodulation will be crucial to facilitate an increased and improved application of neuromodulation in human disease.

Methods: We will focus on deep brain stimulation (DBS) - the most common form of basal ganglia neuromodulation - however, similar principles can apply to other neuromodulation modalities. Read More

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http://dx.doi.org/10.1016/j.parkreldis.2019.01.009DOI Listing
January 2019
4 Reads
3.972 Impact Factor