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Mol Genet Metab 2021 Jun 2. Epub 2021 Jun 2.

Department of Pharmacology and Chemical Biology, Emory University, Atlanta, GA, USA; Department of Neurology, Emory University, Atlanta, GA, USA. Electronic address:

Dystonia is characterized by involuntary muscle contractions that cause debilitating twisting movements and postures. Although dysfunction of the basal ganglia, a brain region that mediates movement, is implicated in many forms of dystonia, the underlying mechanisms are unclear. The inherited metabolic disorder DOPA-responsive dystonia is considered a prototype for understanding basal ganglia dysfunction in dystonia because it is caused by mutations in genes necessary for the synthesis of the neurotransmitter dopamine, which mediates the activity of the basal ganglia. Read More

J Formos Med Assoc 2021 Jun 4. Epub 2021 Jun 4.

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

Background/purpose: A heterozygous three-nucleotide (GAG) in-frame deletion in the TOR1A gene causes the rare disease, dystonia (DYT1), which typically presents as focal limb dystonia during adolescence, then spreads to other limbs. This study investigated the frequency and clinical features of DYT1 in a Taiwanese dystonia cohort.

Methods: We performed targeted next generation sequencing in 318 patients with primary dystonia. Read More

Toxins (Basel) 2021 May 17;13(5). Epub 2021 May 17.

EuroMov DHM, IMT Ales, Univ Montpellier, 34090 Montpellier, France.

Botulinum toxin-A (BoNT-A) blocks acetylcholine release at the neuromuscular junction (NMJ) and is widely used for neuromuscular disorders (involuntary spasms, dystonic disorders and spasticity). However, its therapeutic effects are usually measured by clinical scales of questionable validity. Single-fiber electromyography (SFEMG) is a sensitive, validated diagnostic technique for NMJ impairment such as myasthenia. Read More

Eur J Neurosci 2021 Jun 1. Epub 2021 Jun 1.

Univ Littoral Côte d'Opale, Univ Lille, Univ Artois, URePSSS - Unité de Recherche Pluridisciplinaire Sport Santé Société, EA, rue Ferdinand Buisson, Calais Cedex, France.

In writer's cramp, a form of focal hand dystonia, cortical GABAergic inhibitory mechanisms are altered and may cause involuntary tonic contractions whilst writing. The objective of this study was to explore the time course of long-interval intracortical inhibition that involves GABA-B transmission and late cortical disinhibition (that combines GABA-A and GABA-B mechanisms) in patients with writer's cramp and in control subjects. A double pulse transcranial magnetic stimulation protocol was used to evoke long-interval intracortical inhibition and late cortical disinhibition while the subjects either gripped a cylinder between their thumb and index fingers or relaxed all their upper limb muscles. Read More

Mov Disord 2021 May 29. Epub 2021 May 29.

Department of Neurosurgery, Neurological Institute, Tokyo Women's Medical University, Tokyo, Japan.

Background: The efficacy of magnetic resonance-guided focused ultrasound (MRgFUS) thalamotomy for the treatment of focal hand dystonia (FHD) is not well known.

Objective: We aimed to prospectively investigate the efficacy of MRgFUS thalamotomy for the treatment of FHD.

Methods: We performed MRgFUS thalamotomy of the ventro-oral (Vo) nucleus in 10 patients with FHD. Read More

Nat Commun 2021 05 28;12(1):3216. Epub 2021 May 28.

Institute of Medical Biometry and Statistics, University of Lübeck, University Hospital Schleswig-Holstein, Lübeck, Germany.

X-linked dystonia-parkinsonism is a neurodegenerative disorder caused by a founder retrotransposon insertion, in which a polymorphic hexanucleotide repeat accounts for ~50% of age at onset variability. Employing a genome-wide association study to identify additional factors modifying age at onset, we establish that three independent loci are significantly associated with age at onset (p < 5 × 10). The lead single nucleotide polymorphisms collectively account for 25. Read More

Zh Nevrol Psikhiatr Im S S Korsakova 2021 ;121(4):127-133

Privolzhsky Research Medical University, Nizhny Novgorod, Russia.

Muscle dystonia is one of the most common extrapyramidal diseases and is the third most common after essential tremor and Parkinson's disease. The introduction of diagnostic methods expanded the understanding of the genetic basis of muscle dystonia and neurophysiological mechanisms of dystonic phenomena. However, the questions of the etiology and pathogenesis of dystonia still remain the subject of close interest of researchers. Read More

Brain Nerve 2021 May;73(5):595-604

Department of Neurology, Kitasato University.

Anti-NMDA receptor (NMDAR) encephalitis is an autoimmune disease caused by autoantibodies against the extracellular conformational epitope of the NR1 subunit of the NMDAR (GluN1 antibodies). A series of autoantibodies directed against neuronal surface (NS) or synaptic proteins play an important role in the pathophysiological mechanisms of post-herpes simplex encephalitis (post-HSE), overlapping autoimmune encephalitis and demyelinating syndrome, epileptic seizures, psychosis, involuntary movements (orofacial and limb dyskinesias, catatonia, dystonia, chorea, myoclonus, psychogenic nonepileptic seizures, and faciobrachial dystonic seizures), postpartum psychosis, stiff-person spectrum disorder (including progressive encephalomyelitis with rigidity and myoclonus [PERM]), cerebellar ataxia, and sleep behavior disorders. These NS antibodies are identified with cell-based assays and immunohistochemistry using nonperfused paraformaldehyde-fixed rodent brain tissue. Read More

Acta Neurol Scand 2021 May 13. Epub 2021 May 13.

Neurology, Parkinson's Clinic of Eastern Toronto & Movement Disorders Centre, Toronto, ON, Canada.

Among the various non-motor symptoms of Parkinson's disease (PD), pain is often cited as the most common and debilitating feature. Currently, the literature contains gaps in knowledge with respect to the various forms of treatment available, particularly non-pharmacological therapies. Thus, the purpose of this systematic review is to provide an examination of the literature on non-pharmacological therapies for pain in PD. Read More

J Neurol 2021 May 11. Epub 2021 May 11.

Department of Neurology, The Walton Centre NHS Foundation Trust, Liverpool, UK.

Introduction: Holmes Tremor (HT) is a unique and debilitating movement disorder. It usually results from lesions of the midbrain and its connection but can also result from posterior thalamic injury. Clinical examination can help lesion localization between these two areas. Read More

Mov Disord 2021 May 4. Epub 2021 May 4.

Department of Neurology, Movement Disorders and Neuromodulation Unit, Charité University Medicine Berlin, Berlin, Germany.

Background: Systematic perceptual distortions of tactile space have been documented in healthy adults. In isolated focal dystonia impaired spatial somatosensory processing is suggested to be a central pathophysiological finding, but the structure of tactile space for different body parts has not been previously explored.

Objectives: The objective of this study was to assess tactile space organization with a novel behavioral paradigm of tactile distance perception in patients with isolated focal dystonia and controls. Read More

Mov Disord 2021 05 2;36(5):1104-1114. Epub 2021 May 2.

Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, Zayed Centre for Research into Rare Disease in Children, London, United Kingdom.

Adenylyl cyclase 5 (ADCY5)-related phenotypes comprise an expanding disease continuum, but much remains to be understood about the underlying pathogenic mechanisms of the disease. ADCY5-related disease comprises a spectrum of hyperkinetic disorders involving chorea, myoclonus, and/or dystonia, often with paroxysmal exacerbations. Hypotonia, developmental delay, and intellectual disability may be present. Read More

Expert Opin Pharmacother 2021 Jun 9:1-12. Epub 2021 Jun 9.

Movement Disorders Department, Clinic of Neurology, Clinical Center of Serbia, Faculty of Medicine, University of Belgrade, Belgrade, Serbia.

Treatment of dystonia is particularly complex due to various etiologies and heterogeneous clinical manifestation, as well as different degrees of disability. In absence of causative treatment, all symptomatic therapy should be predominantly tailored to ameliorate those symptoms (motor and non/motor) that mostly affect patients' daily life and regular activities. Many different treatment options, including oral medications, neurosurgical interventions, physical and occupational therapy are available in treatment of dystonia. Read More

Front Neurol 2021 8;12:660909. Epub 2021 Apr 8.

Department of Neurology, Emory University School of Medicine, Atlanta, GA, United States.

Dystonia is a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal postures, repetitive movements, or both. Research in dystonia has been challenged by several factors. First, dystonia is uncommon. Read More

Brain 2021 Apr 23. Epub 2021 Apr 23.

Department of Radiology, Mayo Clinic, Jacksonville, FL, USA.

The pathophysiology of dystonic tremor and essential tremor remains partially understood. In patients with medication-refractory dystonic tremor or essential tremor, deep brain stimulation (DBS) targeting the thalamus or posterior subthalamic area has evolved into a promising treatment option. However, the optimal DBS targets for these disorders remains unknown. Read More

Brain 2021 Apr 19. Epub 2021 Apr 19.

Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy.

The "homotypic fusion and protein sorting" (HOPS) complex is the structural bridge necessary for the fusion of late endosomes and autophagosomes with lysosomes. Recent publications linked mutations in genes encoding HOPS complex proteins with the etiopathogenesis of inherited dystonias (i.e. Read More

Indian J Pediatr 2021 06 9;88(6):596. Epub 2021 Apr 9.

Department of Pediatric Medicine, Indira Gandhi Institute of Child Health, Bangalore, Karnataka, India.

BMC Neurol 2021 Apr 6;21(1):148. Epub 2021 Apr 6.

Department of Neurology, Kyung Hee University Hospital, Kyung Hee University College of Medicine, 23 Kyungheedae-ro, Dongdaemun-gu, Seoul, 02447, Republic of Korea.

Background: Neurodegenerative disorders are characterized by insidious progression with poorly-delineated long latent period. Antecedent clinical insult could rarely unmask latent neurodegenerative disorders. Here, we report an autopsy-proven case of corticobasal degeneration which was preceded by a lacunar infarction. Read More

Mov Disord Clin Pract 2021 Apr 19;8(3):456-459. Epub 2021 Mar 19.

Department of Neurology, Division of Movement Disorders University of Washington Seattle Washington USA.

Int J Mol Sci 2021 Mar 30;22(7). Epub 2021 Mar 30.

Department of Neurology, Hannover Medical School, Carl-Neuberg-Str. 1, 30625 Hannover, Germany.

Myoclonus-dystonia (DYT-SGCE, formerly DYT11) is characterized by alcohol-sensitive, myoclonic-like appearance of fast dystonic movements. It is caused by mutations in the gene encoding ε-sarcoglycan leading to a dysfunction of this transmembrane protein, alterations in the cerebello-thalamic pathway and impaired striatal plasticity. To elucidate underlying pathogenic mechanisms, we investigated induced pluripotent stem cell (iPSC)-derived striatal medium spiny neurons (MSNs) from two myoclonus-dystonia patients carrying a heterozygous mutation in the gene (c. Read More

Int J Mol Sci 2021 Mar 7;22(5). Epub 2021 Mar 7.

Department of Systems Medicine, Tor Vergata University of Rome, 00133 Rome, Italy.

We aimed to investigate A2A receptors in the basal ganglia of a DYT1 mouse model of dystonia. A2A was studied in control Tor1a+/+ and Tor1a+/- knock-out mice. A2A expression was assessed by anti-A2A antibody immunofluorescence and Western blotting. Read More

BMJ Case Rep 2021 Mar 25;14(3). Epub 2021 Mar 25.

Neurology, Duke University, Durham, North Carolina, USA.

We present the case of a 70-year-old woman with treatment-refractory diaphragmatic dystonia. Patient initially presented with blepharospasms followed by development of involuntary inspiratory spasms during speech. Her symptoms were drug-refractory, and she therefore underwent awake bilateral pallidal deep brain stimulation with microelectrode recording. Read More

Mov Disord 2021 03;36(3):533-534

Department of Clinical Neuroscience, Umeå University, Umeå, Sweden.

Front Neurol 2021 5;12:642904. Epub 2021 Mar 5.

Department of Neurosurgery, Neurological Institute, Tokyo Women's Medical University, Tokyo, Japan.

The cerebellum plays an important role in the pathogenesis and pathophysiology of movement disorders, including tremor and dystonia. To date, there have been few reports on deep cerebellar stimulation. The patient was a 35-year-old previously healthy man with no history of movement disorders. Read More

Eur J Pain 2021 Mar 19. Epub 2021 Mar 19.

Movement Disorders Center, Department of Neurology, School of Medicine, University of São Paulo, São Paulo, SP, Brazil.

Background: Unlike motor symptoms, the effects of deep brain stimulation (DBS) on non-motor symptoms associated with dystonia remain unknown.

Methods: The objective of this study was to assess the effects of DBS on evoked experimental pain and cutaneous sensory thresholds in a crossover, double-blind on/off study and compare these results with those of healthy volunteers (HV).

Results: Sixteen patients with idiopathic dystonia (39. Read More

Rev Colomb Psiquiatr (Engl Ed) 2020 Dec 29. Epub 2020 Dec 29.

Departamento de Fisiología, Facultad de Medicina, Universidad de los Andes, Mérida, Venezuela.

The ego-dystonic experience refers to the negative assessment that the subject makes of some of their thoughts or emotions, in the context of a conserved state of consciousness, as well as other aspects of their social and intrapersonal life that are relatively intact. Ego-dystonia is a widely used construct, but one that has not been defined in reasonably operational terms. Perhaps this explains why it is no longer used in contemporary classifications of mental disorders such as the ICD-11 and DSM-5. Read More

Rev Colomb Psiquiatr (Engl Ed) 2020 Oct 17. Epub 2020 Oct 17.

Facultad de Medicina, Departamento de Psiquiatría y Salud Mental, Pontificia Universidad Javeriana, Hospital Universitario San Ignacio-Centro de Memoria y Cognición Intellectus, Bogotá, Colombia. Electronic address:

Dystonia is a movement disorder characterised by sustained muscle contractions that produce repetitive twisting movements or abnormal postures. It can be classified according to the aetiology as primary (idiopathic and genetic forms), or secondary. The presentation associated with generalised, intense episodes and with exacerbation of severe muscle contractures and usually refractory to traditional pharmacotherapy is known as dystonic status or dystonic storm. Read More

Mov Disord 2021 05 16;36(5):1119-1124. Epub 2021 Mar 16.

Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy.

Tremor Other Hyperkinet Mov (N Y) 2021 Mar 2;11. Epub 2021 Mar 2.

Department of Neuromedicine, Bangur Institute of Neurosciences, Institute of Neurosciences, Institute of Postgraduate Medical Education and Research & SSKM Hospital, Kolkata, India.

Background: Chorea and ballism are well-recognized acute potentially reversible movement disorders as the presenting manifestation of non-ketotic hyperglycemic states among older type-2 diabetics. Myoclonus as the form of presentation of diabetic keto-acidosis (DKA) in previously undiagnosed type-1 diabetic has never been reported before.

Case Report: We herein report the case of a 36-year-old previously healthy patient who presented with acute onset incessant faciobrachial myoclonus for 10 days. Read More