17,816 results match your criteria Dystonias
Neuromolecular Med 2018 Dec 5. Epub 2018 Dec 5.
Laboratory of Neurogenetics, Department of Neurology, University Hospital of Larissa, University of Thessaly, Biopolis, Mezourlo Hill, 41100, Larissa, Greece.
A few genetic variants are implicated in the development of blepharospasm (BSP). The precise role of the rs6265 on the brain-derived neurotrophic factor (BDNF) gene on BSP remains controversial. The effect of rs6265 on BSP was evaluated. Read More
Front Neurol 2018 21;9:983. Epub 2018 Nov 21.
Department of Neurology, Christian-Albrechts University of Kiel, Kiel, Germany.
Deep brain stimulation (DBS) is an established treatment for various movement disorders. There is little data available about the potential damage to brain parenchyma through DBS treatment. The objective of this study was to investigate the occurrence of signal changes on magnetic resonance imaging (MRI) in patients treated with DBS. Read More
JAMA Neurol 2018 Dec 3. Epub 2018 Dec 3.
Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Importance: Anecdotal evidence suggests that deep brain stimulation (DBS) of the internal globus pallidus (GPi) is effective in ameliorating dystonia in X-linked dystonia parkinsonism (XDP), a disease that is usually refractive to medical therapy.
Objective: To determine the efficacy of GPi-DBS in a cohort of patients with XDP in a prospective study and identify predictors of postoperative outcomes.
Design, Setting, And Participants: This observational prospective cohort study enrolled patients in February 2013 and was completed in December 2014. Read More
Cell Physiol Biochem 2018 Nov 30;51(4):1799-1814. Epub 2018 Nov 30.
College of Life and Health Science, Northeastern University, Shenyang,
Background/aims: B-cell receptor-associated protein 31 (Bap31) is an evolutionarily conserved, ubiquitously expressed, polytopic integral membrane protein in the endoplasmic reticulum (ER) that is involved in the regulation of apoptosis, protein transport and degradation. Patients with Bap31 mutations exhibit symptoms similar to those exhibited by patients with central nervous system (CNS) diseases, such as deafness, dystonia, and intellectual disability. The present study aimed to investigate the function of Bap31 in CNS diseases by identifying a CNS disease-related gene regulated by Bap31 and exploring the underlying molecular mechanism. Read More
Neurology 2018 Nov 30. Epub 2018 Nov 30.
From the Department of Neurology-Pediatric Neurology (N.J.H.v.O., M.A.A.P.W.) and Department of Neurology (N.J.H.v.O., J.v.G., B.P.C.v.d.W.), Donders Institute for Brain, Cognition and Behaviour, Donders Center for Medical Neuroscience, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Neurology (A.H.), Addenbrookes Hospital, Cambridge; Institute of Cancer & Genomic Sciences (A.M.R.T.), University of Birmingham, UK; Department of Internal Medicine (M.v.D.), Radboud University Medical Center, Nijmegen; Department of Pediatric Infectious Diseases and Immunology (C.M.R.W.), Amalia Children's Hospital and Radboud Institute for Molecular Life Sciences, and Department of Pediatrics, Radboudumc Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, the Netherlands.
Objective: To describe and classify the neurologic trajectories in patients with mild neurologic forms of ataxia telangiectasia (A-T) from the Dutch A-T cohort, combined with patients reported in the literature.
Methods: Clinical, genetic, and laboratory data of 14 patients with mild neurologic phenotypes of A-T from the Dutch cohort were analyzed and combined with corresponding data from the literature. A mild neurologic phenotype was defined by a later onset, nonataxia presenting or dominant feature, or slower progression compared to the classic A-T phenotype. Read More
Neurobiol Aging 2018 Nov 7. Epub 2018 Nov 7.
Green Cross Genome, Yongin, Gyeonggi-do, Republic of Korea. Electronic address:
Early-onset Parkinson's disease (EOPD) can be linked to different genetic backgrounds depending on the disease characteristics. In Korean patients with EOPD, however, only 5 PARK genes have been tested. We recruited 70 patients with EOPD from 4 hospitals in Korea, and 12 PARK genes were screened via multigene panel sequencing. Read More
Expert Rev Neurother 2018 Dec 1. Epub 2018 Dec 1.
b Department of Human Neurosciences , Sapienza University of Rome , Rome.
Introduction: This paper reviews studies that have assessed the treatment of psychiatric disturbances in dystonia, tic disorders, Tourette syndrome, Huntington's disease and essential tremor. Areas covered: We searched for papers in English in Pubmed using the following keywords: blepharospasm, cervical dystonia, arm dystonia, laryngeal dystonia, spasmodic dysphonia, tic disorders, Tourette syndrome, Huntington's chorea, essential tremor, depression, anxiety, obsessive compulsive disorders, attention deficit hyperactivity disorders, psychosis, apathy. Expert commentary: Although psychiatric disturbances are frequent in hyperkinetic movement disorders, few controlled studies have assessed the treatment of psychiatric disturbances in such disorders. Read More
Tremor Other Hyperkinet Mov (N Y) 2018 16;8:592. Epub 2018 Nov 16.
School of Engineering, Trinity College Dublin, The University of Dublin, Dublin, IE.
Background: Cervical dystonia is a hyperkinetic movement disorder of unknown cause. Symptoms of cervical dystonia have been induced in animals in which the integrity of the nigro-tectal pathway is disrupted, resulting in reduced inhibition of the deep layers of the superior colliculus. This same pathway is believed to play a critical role in saccade generation, particularly visually guided, express saccades. Read More
Parkinsonism Relat Disord 2018 Nov 17. Epub 2018 Nov 17.
Department of Biomedical and NeuroMotor Sciences, University of Bologna, Bologna, Italy; IRCCS Istituto delle Scienze Neurologiche di Bologna, Clinica Neurologica, Bologna, Italy.
Introduction: The neuroanatomical substrate of stridor associated with Multiple System Atrophy (MSA) remains unclear. We evaluated stridor-related gray matter (GM) changes in MSA.
Methods: 36 MSA patients underwent standardized nocturnal video-polysomnography and brain MRI. Read More
J Neurol Sci 2018 Nov 22;396:199-201. Epub 2018 Nov 22.
Institute of Neurogenetics, University of Lübeck, Germany. Electronic address:
Ann Phys Rehabil Med 2018 Nov 28. Epub 2018 Nov 28.
Service de rééducation neurolocomotrice, EA 7377 BIOTN, laboratoire analyse et restauration du mouvement, université Paris-Est Créteil, hôpitaux universitaires Henri-Mondor, Assistance publique-Hôpitaux de Paris, 51, avenue du Maréchal-de-Lattre-de-Tassigny, 94010 Créteil, France.
This paper revisits the taxonomy of the neurophysiological consequences of a persistent impairment of motor command execution in the classic environment of sensorimotor restriction and muscle hypo-mobilization in short position. Around each joint, the syndrome involves 2 disorders, muscular and neurologic. The muscular disorder is promoted by muscle hypo-mobilization in short position in the context of paresis, in the hours and days after paresis onset: this genetically mediated, evolving myopathy, is called spastic myopathy. Read More
Neuropsychiatr Dis Treat 2018 25;14:2807-2816. Epub 2018 Oct 25.
Janssen Research and Development, LLC, Titusville, NJ, USA,
Objective: The aim of this study was to evaluate the safety of 3-monthly paliperidone palmitate (PP3M) vs once-monthly paliperidone palmitate (PP1M) treatment with regard to extrapyramidal symptom (EPS)-related treatment-emergent adverse events (TEAEs) in patients with schizophrenia, previously stabilized on PP1M treatment.
Patients And Methods: Data on overall incidence, time to onset (TTO), and time to resolution (TTR) of EPS-related TEAEs (overall, subclasses such as dyskinesia, dystonia, hyperkinesia, parkinsonism, and tremor) from a randomized double-blind (DB) non-inferiority study were compared between PP3M and PP1M. Subgroup analysis was performed by age (18-25, 26-50, and 50+ years) and final open-label (OL) dose (50/75, 100, and 150 mg eq. Read More
Tidsskr Nor Laegeforen 2018 Nov 26;138(19). Epub 2018 Nov 26.
Bakgrunn: Doparesponsiv dystoni er en gruppe sykdommer som gir endrede nivåer av nevrotransmittere. Dette kan behandles med god effekt. Økt innsikt i patofysiologiske årsaksforhold har bedret forståelsen av sykdommene. Read More
J Neurosurg 2018 Oct 1:1-4. Epub 2018 Oct 1.
Camptocormia is a rare, involuntary movement disorder, presenting as truncal flexion while standing or walking, and is mainly observed as a feature of Parkinson's disease (PD) and primary dystonia. Deep brain stimulation (DBS) of the globus pallidus internus is effective for refractory camptocormia observed with PD or dystonia. However, the effectiveness of pallidotomy for camptocormia has not been investigated. Read More
Handb Clin Neurol 2018 ;159:283-301
Movement Disorders Unit, Department of Neurology, Westmead Hospital, Sydney, NSW, Australia; Sydney Medical School, University of Sydney, Sydney, NSW, Australia. Electronic address:
Tremor is a phenomenon observed in a broad spectrum of diseases with different pathophysiologies. While patients with tremor may not complain in the clinic of symptoms of imbalance, gait difficulties, or falls, laboratory research studies using quantitative analysis of gait and posture and neurophysiologic techniques have demonstrated impaired gait and balance across a variety of tremor etiologies. These findings have been supported by careful epidemiologic studies assessing symptoms of imbalance. Read More
Handb Clin Neurol 2018 ;159:229-236
Reta Lila Weston Institute of Neurological Studies, UCL Institute of Neurology, University College London, London, United Kingdom. Electronic address:
This chapter presents a review of the literature for falls and abnormalities of balance and gait in isolated dystonia syndromes. Balance appears to be relatively preserved in primary and focal dystonias, except when postural abnormalities significantly displace the center of gravity of the body. Gait can be affected by abnormal dystonic movements and limb deformities, and is commonly abnormal in generalized dystonia. Read More
Stereotact Funct Neurosurg 2018 Nov 27;96(5). Epub 2018 Nov 27.
Movement Disorder and Neuromodulation Center, Department of Neurology, University of California San Francisco, San Francisco, California,
Background: X-linked dystonia parkinsonism (XDP) causes adult-onset progressive dystonia and parkinsonism, which may not respond to pharmacotherapy.
Objective: Previous case reports have reported beneficial effects from bilateral pallidal (GPi) deep brain stimulation (DBS). Here, we report the long-term clinical outcomes of 3 patients treated at our center. Read More
World Neurosurg 2018 Nov 24. Epub 2018 Nov 24.
Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China; Department of Functional Neurosurgery, Beijing Neurosurgical Institute, Capital Medical University, Beijing, China; Beijing Key Laboratory of Neurostimulation, Beijing 100050, China. Electronic address:
Objective: To compare the efficacy and side effects of bilateral globus pallidus internus (GPi) and subthalamic nucleus (STN) deep brain stimulation (DBS) in the same patient with primary dystonia.
Methods: Primary dystonia patients from the Department of Functional Neurosurgery in Beijing Tiantan Hospital were recruited for the study. Four electrodes were bilaterally implanted in the GPi and STN. Read More
Neurol Sci 2018 Nov 26. Epub 2018 Nov 26.
Dipartimento di Scienze della Salute, Universita' Degli Studi di Milano, Milan, Italy.
Int Rev Neurobiol 2018 23;143:1-30. Epub 2018 Oct 23.
Department of Otolaryngology, Massachusetts Eye and Ear Infirmary, Boston, MA, United States; Department of Neurology, Massachusetts General Hospital, Boston, MA, United States; Harvard Medical School, Boston, MA, United States. Electronic address:
Dystonia is a neurological disorder characterized by involuntary, repetitive movements. Although the precise mechanisms of dystonia development remain unknown, the diversity of its clinical phenotypes is thought to be associated with multifactorial pathophysiology, which is linked not only to alterations of brain organization, but also environmental stressors and gene mutations. This chapter will present an overview of the pathophysiology of isolated dystonia through the lens of applications of major neuroimaging methodologies, with links to genetics and environmental factors that play a prominent role in symptom manifestation. Read More
Parkinsonism Relat Disord 2018 Nov 19. Epub 2018 Nov 19.
Department of Neurology, Peking University People's Hospital, Beijing, China. Electronic address:
Background: Mutations in the SYNJ1 gene have been associated with early-onset of atypical Parkinson's disease or severe neurodegeneration with intractable seizures. Due to the rarity of the disease, there were limitations in the quality of available treatment options for SYNJ1-related diseases.
Methods: Two affected siblings from a non-consanguineous family were evaluated through a set of clinical and laboratory tests. Read More
Mol Genet Metab 2018 Nov 16. Epub 2018 Nov 16.
1st Department of Pediatrics, "Hippokratio" General Hospital, Aristotle University, Thessaloniki, Greece. Electronic address:
Succinate-CoA ligase (SUCL) is a heterodimer consisting of an alpha subunit encoded by SUCLG1, and a beta subunit encoded by either SUCLA2 or SUCLG2 catalyzing an ATP- or GTP-forming reaction, respectively, in the mitochondrial matrix. The deficiency of this enzyme represents an encephalomyopathic form of mtDNA depletion syndromes. We describe the fatal clinical course of a female patient with a pathogenic mutation in SUCLG1 (c. Read More
Clin Psychopharmacol Neurosci 2018 Nov;16(4):494-496
Department of Psychiatry, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan.
No previous reports have described a case in which deep brain stimulation elicited an acute mood swing from a depressive to manic state simply by switching one side of the bilateral deep brain stimulation electrode on and off. The patient was a 68-year-old woman with a 10-year history of Parkinson's disease. She underwent bilateral subthalamic deep brain stimulation surgery. Read More
Neurol Sci 2018 Nov 21. Epub 2018 Nov 21.
Neotia Getwell Healthcare Centre, Siliguri, West Bengal, India.
Neuropsychiatr Dis Treat 2018 26;14:2847-2852. Epub 2018 Oct 26.
Department of Neurology, University of Bonn, Bonn, Germany,
Background: Sexual dysfunction is a frequent, yet underrated, symptom of neurological disease. While knowledge of non-motor comorbidity in focal dystonia is growing rapidly, there is no information on the prevalence of sexual dysfunction in cervical dystonia (CD) or blepharospasm (BL).
Methods: In this controlled study, we examined sexual dysfunction in 65 patients with CD and 54 patients with BL by the Arizona Sexual Experience Scale, a validated self-rating scale. Read More
Sci Rep 2018 Nov 21;8(1):17218. Epub 2018 Nov 21.
Department of Stereotactic and Radiation Neurosurgery, Na Homolce Hospital, Prague, Czech Republic.
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 stimulation. The relationships between grey matter volume and intracortical inhibition considering the long-term clinical outcome and states of the GPi DBS were analysed. Read More
Neurology 2018 Nov 21. Epub 2018 Nov 21.
From the Department of Neurology (P.A., A.J., J.-I.L., M.M., M.R., O.A., H.-P.H., H.H.), Medical Faculty, Heinrich Heine University Düsseldorf; and Toxogen GmbH (D.R., H.B.), Hannover, Germany.
Objective: To investigate the prevalence of neutralizing antibodies (NABs) against botulinum neurotoxin type A (BoNT/A) during long-term BoNT/A treatment in different neurologic indications.
Methods: In this monocentric, observational cross-sectional study, 596 outpatients treated with BoNT/A for different indications were tested for BoNT/A binding antibodies by ELISA. Positive samples were investigated for NABs with the mouse hemidiaphragm test. Read More
J Neurol 2018 Nov 20. Epub 2018 Nov 20.
Academic Department of Neurosciences, Sheffield Teaching Hospitals, NHS Foundation Trust, Sheffield, UK.
Objective: Dystonia is characterised by sustained muscular contractions frequently producing repetitive, twisting and patterned movements. The primary aim of this systematic review was to establish how quality of life (QoL) is affected in idiopathic focal, multifocal and segmental dystonia. This review aimed to evaluate variations in QoL between different subtypes of dystonia, identify the determinants of QoL and assess the effects of different treatments on QoL. Read More
Front Cell Neurosci 2018 6;12:390. Epub 2018 Nov 6.
Division of Physiology and Neuroscience, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania.
The synchronization of neuronal activity in the sensorimotor cortices is crucial for motor control and learning. This synchrony can be modulated by upstream activity in the cerebello-cortical network. However, many questions remain over the details of how the cerebral cortex and the cerebellum communicate. Read More
J Hum Genet 2018 Nov 20. Epub 2018 Nov 20.
Diagnostics Division, Centre for DNA Fingerprinting & Diagnostics, Hyderabad, India.
We report on a sib pair of Indian origin born of a consanguineous parentage with a novel phenotype of distinct facial dysmorphism, cerebellar ataxia, dystonia, and exudative retinopathy due to homozygous PCDH12 nonsense variations. cDNA studies showed >90% reduction in transcript levels in both patients, indicating nonsense-mediated decay and loss of function as the probable causative molecular mechanism of the phenotype. Read More
PLoS One 2018 20;13(11):e0207729. Epub 2018 Nov 20.
Department of Neurology, Helsinki University Hospital and Department of Clinical Neurosciences (Neurology), University of Helsinki, Helsinki, Finland.
Background: Dystonia is a group of chronic diseases, causing considerable physical and psychosocial stress to patients and health care expenses. We studied the prevalence of different dystonia types in Finland in the years 2007-2016.
Methods: All patients with an ICD-10 code of dystonia were retrieved from the national care register. Read More
Clin Case Rep 2018 Nov 26;6(11):2150-2155. Epub 2018 Sep 26.
Department of Neurology and Clinical Neurophysiology (Dystonia Clinic) Bispebjerg University Hospital University of Copenhagen Copenhagen Denmark.
Tardive dystonia is a risk factor in medical antipsychotic treatment. It often begins with repetitive involuntary jaw and tongue movements resulting in impaired chewing and detrimental effect on the dentition. The orofacial dysfunction may go unrecognized in a neurological setting. Read More
Clin Case Rep 2018 Nov 15;6(11):2070-2074. Epub 2018 Sep 15.
Brooke Army Medical Center San Antonio TX USA.
Dystonia 24 was first reported in 2000 as an autosomal dominant cause of dystonia caused by variants in the 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. Read More
Front Neurol 2018 5;9:934. Epub 2018 Nov 5.
Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.
Dystonia and Huntington's disease (HD) are both hyperkinetic movement disorders but exhibit distinct clinical characteristics. Aberrant output from the globus pallidus internus (GPi) is involved in the pathophysiology of both HD and dystonia, and deep brain stimulation (DBS) of the GPi shows good clinical efficacy in both disorders. The electrode externalized period provides an opportunity to record local field potentials (LFPs) from the GPi to examine if activity patterns differ between hyperkinetic disorders and are associated with specific clinical characteristics. Read More
J Clin Neurosci 2018 Nov 16. Epub 2018 Nov 16.
Department of Neurology, All India Institute of Medical Sciences, New Delhi 110029, India. Electronic address:
We aimed to study the proportion of patients with movement disorders in seropositive autoimmune encephalitis of non-neoplastic aetiology and also to describe the spectrum of movement disorders in them. We prospectively screened 362 patients of age >12 years with encephalitis of unknown aetiology for a panel of antibodies for autoimmune encephalitis. Demographic and clinical characteristics with focus on the movement disorders were recorded. Read More
Conf Proc IEEE Eng Med Biol Soc 2018 Jul;2018:5187-5190
Humans typically move slower if the movement needs to be more accurate. Such a tradeoff between movement speed and accuracy is quantified in Fitts' Law as a linear relationship between the movement time (MT) and the index of difficulty (ID). For patients with stroke, the detailed pattern of speed-accuracy tradeoff is likely affected due to disrupted neuromuscular control in stroke. Read More
Mov Disord 2018 Nov 15. Epub 2018 Nov 15.
Movement Disorders and Neuromodulation Unit, Department of Neurology, Charité-Universitätsmedizin Berlin, Berlin, Germany.
Background: Exaggerated beta power has been discussed as a disease-specific biomarker for Parkinson's disease (PD) and has recently been suggested to rely on prolonged bursts of subthalamic beta synchronization.
Objective: In this study, we test whether prolonged bursts are disease specific for beta activity in PD by comparison to oscillatory activity in dystonia.
Methods: Pallidal local field potentials were recorded from 5 PD patients ON and OFF dopaminergic medication and 5 dystonia patients. Read More
Micromachines (Basel) 2018 Oct 10;9(10). Epub 2018 Oct 10.
Laboratory for Biomedical Microtechnology, Department of Microsystems Engineering (IMTEK), University of Freiburg, Georges-Kohler-Allee 102, 79110 Freiburg, Germany.
Deep brain stimulation (DBS) is a successful medical therapy for many treatment resistant neuropsychiatric disorders such as movement disorders; e.g., Parkinson's disease, Tremor, and dystonia. Read More
Can J Neurol Sci 2018 Nov 13:1-3. Epub 2018 Nov 13.
1Department of Clinical Neurological Sciences,London Health Sciences Centre,Western University,London, Ontario,Canada.
World Neurosurg 2018 Nov 9. Epub 2018 Nov 9.
Department of Neurosurgery, Vanderbilt University Medical Center School, Nashville, TN, USA. Electronic address:
Background: Cervical dystonia is a disabling medical condition that drastically decreases quality of life. Surgical treatment consists of peripheral nerve denervation procedures with or without myectomies or deep brain stimulation (DBS). The current objective was to compare the efficacy of peripheral denervation versus DBS in improving severity of cervical dystonia through a systematic review and meta-analysis. Read More
World Neurosurg 2018 Nov 9. Epub 2018 Nov 9.
Department of Neurosurgery, Xuanwu Hospital, Capital Medical University, Beijing, China. Electronic address:
Background: Myoclonic dystonia syndrome (MDS) is a rare inherited movement disorder characterized by the coexistence of myoclonic jerks and dystonia. Deep brain stimulation (DBS) is a promising treatment for MDS patients targeting the globus pallidus internus (GPi) or ventral intermediate nucleus (Vim) of the thalamus. However, there are few studies regarding the long-term effects of Vim DBS in MDS patients and even fewer in those without gene mutations. Read More
Spec Care Dentist 2018 Nov 12. Epub 2018 Nov 12.
Department of Oral and Maxillofacial Surgery, Royal Perth Hospital, Wellington Street, Perth, Western Australia.
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare condition associated with severe protrusive lingual dystonia, a form of oromandibular dystonia. Dental appliance therapy has been described for oromandibular dystonia however there is a lack of literature regarding its application specifically to PKAN. In this report, the authors describe the use of an appliance in conjunction with botulinum toxin injections for the symptomatic treatment of this condition. Read More
Childs Nerv Syst 2018 Nov 11. Epub 2018 Nov 11.
Department of Pediatric Neurosurgery, Santobono-Pausilipon Children's Hospital, Via Mario Fiore 6, 80121, Naples, Italy.
Introduction: Intrathecal baclofen (ITB) is an effective treatment for managing primary and secondary dystonia. Intraventricular baclofen (IVB) was first developed to allow treating patients in which the use of ITB was difficult due to anatomic anomalies. After that, several studies indicate that intraventricular administration of baclofen, is more effective than ITB in refractory dystonia. Read More
Arch Phys Med Rehabil 2018 Nov 7. Epub 2018 Nov 7.
Kennedy Krieger Institute, Department of Physical Medicine and Rehabilitation; Department of Pediatrics, Johns Hopkins School of Medicine, Baltimore, MD 21205, USA. Electronic address:
Objective: To systematically examine the safety and effectiveness of transcranial direct current stimulation (tDCS) interventions in pediatric motor disorders.
Data Sources: PubMed, EMBASE, Cochrane, CINAHL, Web of Science, and ProQuest databases were searched from inception to August 2018.
Study Selection: tDCS randomized controlled trials (RCTs), observational studies, conference proceedings and dissertations in pediatric motor disorders were included. Read More
J Neurochem 2018 Nov 9. Epub 2018 Nov 9.
Department of Biomedicine, University of Bergen, Bergen, Norway.
Tyrosine hydroxylase (TH) is a multi-domain, homo-oligomeric enzyme that catalyses the rate-limiting step of catecholamine neurotransmitter biosynthesis. Missense variants of human TH are associated with a recessive neurometabolic disease with low levels of brain dopamine and noradrenaline, resulting in a variable clinical picture, from progressive brain encephalopathy to adolescent onset DOPA-responsive dystonia (DRD). We expressed isoform 1 of human TH (hTH1) and its dystonia-associated missense variants in E. Read More
J Neurol Neurosurg Psychiatry 2018 Nov 8. Epub 2018 Nov 8.
Edmond J. Safra Program in Parkinson's Disease, Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital - UHN, Division of Neurology, University of Toronto, Toronto, Ontario, Canada