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Sensors (Basel) 2022 Jun 9;22(12). Epub 2022 Jun 9.

Rehabilitation Medicine, Amsterdam UMC Location Vrije Universiteit Amsterdam, 1081 HZ Amsterdam, The Netherlands.

Accurate and reliable measurement of the severity of dystonia is essential for the indication, evaluation, monitoring and fine-tuning of treatments. Assessment of dystonia in children and adolescents with dyskinetic cerebral palsy (CP) is now commonly performed by visual evaluation either directly in the doctor's office or from video recordings using standardized scales. Both methods lack objectivity and require much time and effort of clinical experts. Read More

Dev Med Child Neurol 2022 Jun 20. Epub 2022 Jun 20.

Department of Pediatric Neurology, Vall d'Hebron Hospital Universitari, Pediatric.

Aim: To evaluate early dystonic features in children and adolescents with SGCE-myoclonus-dystonia.

Method: In this cross-sectional study, 49 patients (26 females and 23 males) with SGCE-myoclonus-dystonia (aged 15y 2mo, SD 12y) with childhood-onset (2y 10mo, SD 1y 10mo) dystonia were examined using a standardized video recorded protocol. Dystonia was rated using the Writer's Cramp and Gait Dystonia Rating Scales. Read More

Mov Disord 2022 Jun 20. Epub 2022 Jun 20.

Sorbonne Université/Inserm U1127/CNRS UMR 7225/Institut du Cerveau, Paris, France.

Background: Most reported patients carrying GNAO1 mutations showed a severe phenotype characterized by early-onset epileptic encephalopathy and/or chorea.

Objective: The aim was to characterize the clinical and genetic features of patients with mild GNAO1-related phenotype with prominent movement disorders.

Methods: We included patients diagnosed with GNAO1-related movement disorders of delayed onset (>2 years). Read More

Psychopharmacol Bull 2022 May;52(2):161-164

Naguy, MBBCh, MSc, Child/Adolescent Psychiatrist, Al-Manara CAP Centre, Kuwait Centre for Mental Health (KCMH), Jamal Abdul-Nassir St, Shuwaikh, State of Kuwait. Pridmore, MD, Professor of Psychiatry, University of Tasmania, Hobart, Australia. Singh, MBBch, MD, Mrcpsych (UK), Speciality Doctor, Learning Disabilities, Exeter, Devon NHS partnership Trust, UK, and Assistant Professor, Psychiatry, Saraswati medical college, Lucknow, India. Alamiri, MD, ABPN, ScD, Consultant Child/Adolescent Psychiatrist, Head of Al-Manara CAP Centre, KCMH, Kuwait, and, Assistant Professor, Tufts University, Medford, United States.

Objectives: Young patients with intellectual disability (ID) have both diagnostic and therapeutic challenges. These include, inter alia, diagnostic overshadowing, diagnostic slippage and heightened vulnerability to adverse drug reactions. These would portent a generally poor prognostication. Read More

Parkinsonism Relat Disord 2022 Jul 9;100:37-40. Epub 2022 Jun 9.

Department of Neurology, Laboratory of Neurodegenerative Disorders, Rare Diseases Center, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, Chengdu, China. Electronic address:

Objective: Limited studies have focused on non-motor symptoms (NMS) in patients with Writer's cramp (WC). The current study aimed to examine the frequency of NMS and their association with health-related quality of life (HR-QoL) in patients with WC.

Methods: A total of 80 patients with WC and 69 healthy controls (HCs) were enrolled. Read More

Elife 2022 Jun 14;11. Epub 2022 Jun 14.

Neurophysiology of Brain Circuits Team, Institut de biologie de l'Ecole normale supérieure (IBENS), Ecole normale supérieure, CNRS, INSERM, PSL Research University, Paris, France.

Dystonia is often associated with functional alterations in the cerebello-thalamic pathways, which have been proposed to contribute to the disorder by propagating pathological firing patterns to the forebrain. Here, we examined the function of the cerebello-thalamic pathways in a model of DYT25 dystonia. DYT25 () mice carry a heterozygous knockout mutation of the gene, which notably disrupts striatal function, and systemic or striatal administration of oxotremorine to these mice triggers dystonic symptoms. Read More

Parkinsonism Relat Disord 2022 Jul 4;100:19-23. Epub 2022 Jun 4.

Department of Neurology, Mayo Clinic, Jacksonville, FL, USA. Electronic address:

Introduction: A marked response to L-Dopa and L-Dopa-induced dyskinesia (LID) make the diagnosis of Parkinson's disease (PD) highly likely. This paper evaluates response to L-Dopa in Perry syndrome (PS), parkinsonism with distinct molecular and neuropathologic characteristics.

Methods: Six patients with PS with a mean follow-up of 5 years (0. Read More

J Neurol Neurosurg Psychiatry 2022 Jun 10. Epub 2022 Jun 10.

Neurology, University Medical Centre Groningen, Groningen, The Netherlands

Adult-onset dystonia can be acquired, inherited or idiopathic. The dystonia is usually focal or segmental and for a limited number of cases causal treatment is available. In recent years, rapid developments in neuroimmunology have led to increased knowledge on autoantibody-related dystonias. Read More

BMJ Case Rep 2022 06 10;15(6). Epub 2022 Jun 10.

Department of Neurology, Institute of Neurosciences, Medanta The Medicity, Gurugram, Haryana, India

J Mov Disord 2022 May 26;15(2):95-105. Epub 2022 May 26.

Department of Neurology, Chang Gung Memorial Hospital, Linkou Medical Center, Taoyuan, Taiwan.

Movement disorders are common manifestations in autoimmune-mediated encephalitis. This group of diseases is suspected to be triggered by infection or neoplasm. Certain phenotypes correlate with specific autoantibody-related neurological disorders, such as orofacial-lingual dyskinesia with N-methyl-D-aspartate receptor encephalitis and faciobrachial dystonic seizures with leucine-rich glioma-inactivated protein 1 encephalitis. Read More

J Med Case Rep 2022 Jun 3;16(1):217. Epub 2022 Jun 3.

"Pedro Diaz Coello" Policlinic, Holguin, Cuba.

Background: Type 1 neurodegeneration with brain iron accumulation is a rare neurological disorder with estimated prevalence of one to two per million persons worldwide, characterized by progressive degeneration of basal ganglia, globus pallidus, and reticular part of substantia nigra, produced by brain iron accumulation due to a defect in the gene producing pantothenate kinase 2. Clinical presentations include dystonia, dysarthria, dysphagia, dementia, severe mental retardation, and severe movement disability at later stages. The characteristic pattern on brain magnetic resonance imaging shows the "eye of the tiger" sign. Read More

Tremor Other Hyperkinet Mov (N Y) 2022 13;12:15. Epub 2022 May 13.

Department of Neurology, University of Texas Southwestern Medical Center, Dallas, Texas, USA.

Background: The relationship between essential tremor (ET) and dystonia has been long debated and the boundaries between these disorders remain unclear. Here, we highlight the diagnostic uncertainty that can arise when observing dystonic postures in patients who have received ET diagnoses.

Methods: An international panel of seven movement disorders neurologists from five countries reviewed the clinical history and videotaped neurological examinations of five individuals diagnosed with ET who also had various features of dystonia on neurological examination. Read More

J Neurol Sci 2022 Jul 23;438:120295. Epub 2022 May 23.

Movement Disorders Unit, Department of Neurology, Hospital General Universitario Gregorio Marañón, Madrid, Spain.

Biomolecules 2022 May 17;12(5). Epub 2022 May 17.

Department of Biological Sciences, University of South Carolina, 700 Sumter Street, Columbia, SC 29208, USA.

DYT- (dystonia 16 or DYT-) is caused by mutations in the gene that encodes PACT, the protein activator of interferon (IFN)-induced double-stranded (ds) RNA-activated protein kinase (PKR). PACT participates in several cellular pathways, of which its role as a PKR activator protein during integrated stress response (ISR) is the best characterized. Previously, we have established that the DYT- mutations cause enhanced activation of PKR during ISR to sensitize DYT- cells to apoptosis. Read More

Parkinsonism Relat Disord 2022 Jun 19;99:76-78. Epub 2022 May 19.

TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, NSW, Sydney, Australia; Kids Neuroscience Centre, The Children's Hospital at Westmead, NSW, Sydney, Australia; Sydney Medical School, Faculty of Medicine and Health, University of Sydney, Sydney, Australia.

This is a unique case of SPG11 mutation presenting as childhood onset dystonic tremor without weakness or spastic paraplegia. Hereditary spastic paraplegia is the most common phenotype of SPG11 mutation though there are reports of an extended phenotype of SPG11 including dopa-responsive dystonia and tremor. Read More

Neurol Sci 2022 May 24. Epub 2022 May 24.

Neurology Unit, Department of Neuroscience, Dino Ferrari Center, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

Introduction: The recently released classification has revised the nosology of tremor, defining essential tremor (ET) as a syndrome and fueling an enlightened debate about some newly conceptualized entities such as ET-plus. As a result, precise information of demographics, clinical features, and about the natural history of these conditions are lacking.

Methods: The ITAlian tremor Network (TITAN) is a multicenter data collection platform, the aim of which is to prospectively assess, according to a standardized protocol, the phenomenology and natural history of tremor syndromes. Read More

Brain Inj 2022 May 24;36(6):817-821. Epub 2022 May 24.

Department of Physical Medicine and Rehabilitation, Rutgers-New Jersey Medical School, Newark, NewJersey, USA.

Objective: The aim is to highlight three cases of focal spasticity and/or dystonia as potential noxious triggers and treatment targets of Paroxysmal Sympathetic Hyperactivity (PSH).

Methods: We review the literature, explore pathophysiology, and review treatment options. We discuss the clinical course and management of three unique patients who presented to a teaching hospital with severe traumatic brain injury (TBI) complicated by PSH managed by a physiatry consult team. Read More

Neurologia (Engl Ed) 2022 05;37(4):306-308

CHUAC, Complejo Hospitalario Universitario de A Coruña, A Coruña, Spain.

Brain Nerve 2022 May;74(5):581-587

Nomura Neuro Sleep Clinic.

Botulinum toxin treatment is most commonly used for blepharospasm, spastic torticollis, upper limb dystonia, and local dystonia in Japan. Botulinum toxin treatment is the first choice in these conditions. However, it has the disadvantages that the therapeutic effect is transient, that there are cases in whom the treatment is ineffective, and a high cost. Read More

Mov Disord 2022 May;37(5):1113-1115

Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.

Mov Disord Clin Pract 2022 May 14;9(4):468-472. Epub 2022 Apr 14.

National Institute of Neurological Disorders and Stroke National Institute of Health Bethesda Maryland USA.

Background: Task-specific dystonia (TSD) is a challenging clinical diagnosis with no objective diagnostic biomarkers.

Objective: The objective of this study was to test 2 neurophysiologic variables using transcranial magnetic stimulation as potential diagnostic biomarkers for TSD.

Methods: We tested (1) cortical silent period (CSP) and (2) dorsal inferior parietal lobule-motor cortex (dIPL-M1) physiologic connectivity in 9 patients with the writer's cramp form of TSD and 12 healthy volunteers on 2 separate sessions. Read More

Mov Disord Clin Pract 2022 May 26;9(4):429-435. Epub 2022 Feb 26.

Department of Clinical and Movement Neurosciences University College London London United Kingdom.

Major progress has occurred during the last decade in the field of tremor. From the clinical standpoint, a new classification has completely revised the nosology of tremor syndromes and has re-conceptualized essential tremor as a syndrome rather than a single disease entity, fueling an ongoing enlightened debate. Significant advances have been obtained in terms of instrumental measurement of tremor, remarking on the possibility of developing novel treatment strategies based on tremor characteristics, namely tremor-phase. Read More

J Neurol 2022 May 14. Epub 2022 May 14.

Parkinson's Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, TX, USA.

Background: Dystonic tics differ from clonic tics by their slower and more sustained nature. Dystonic tics are often present in patients with Tourette syndrome (TS) and other tic-disorders. However, their phenomenology and impact on overall impairment have not been extensively studied. Read More

Int J Mol Sci 2022 Apr 21;23(9). Epub 2022 Apr 21.

Department of Molecular Biophysics & Biochemistry, Yale University, New Haven, CT 06520, USA.

DYT1 dystonia is a debilitating neurological movement disorder that arises upon Torsin ATPase deficiency. Nuclear envelope (NE) blebs that contain FG-nucleoporins (FG-Nups) and K48-linked ubiquitin are the hallmark phenotype of Torsin manipulation across disease models of DYT1 dystonia. While the aberrant deposition of FG-Nups is caused by defective nuclear pore complex assembly, the source of K48-ubiquitylated proteins inside NE blebs is not known. Read More

Neurosurgery 2022 Jul 16;91(1):139-145. Epub 2022 May 16.

Department of Neurology, University of São Paulo, São Paulo, Brazil.

Background: Hemidystonia (HD) is characterized by unilateral involuntary torsion movements and fixed postures of the limbs and face. It often develops after deleterious neuroplastic changes secondary to injuries to the brain. This condition usually responds poorly to medical treatment, and deep brain stimulation often yields unsatisfactory results. Read More

Can J Neurol Sci 2022 May 11:1-7. Epub 2022 May 11.

Sci Rep 2022 05 10;12(1):7678. Epub 2022 May 10.

Department of Neurosurgery, Aerospace Center Hospital, No. 15, Yuquan Road, Haidian District, Beijing, China.

Subthalamic nucleus (STN) deep brain stimulation (DBS) has been proven to be an alternative target choice for refractory isolated cervical dystonia (CD). However, assessments of its short and long-term safety, efficacy, and sustained effectiveness have been limited to few reports. Here, we evaluated nine consecutive refractory isolated CD patients who underwent bilateral STN DBS and accepted to short and long-term follow-up in this retrospective study. Read More

Stem Cell Res 2022 Jul 5;62:102807. Epub 2022 May 5.

Department of Biochemistry and Molecular Biology, Louisiana State University Health Sciences Center, Shreveport, LA 71130-3932, USA. Electronic address:

Childhood-onset torsin dystonia (DYT1) is a rare hereditary movement disorder and usually caused by a heterozygous GAG deletion (c.907-909) in the TOR1A gene (ΔE, p.Glu303del). Read More

Neurol India 2022 Mar-Apr;70(2):803

Department of Neurology, Aster Medcity, Kochi, Kerala, India.

Acta Neurol Belg 2022 May 8. Epub 2022 May 8.

Department of Neurology, Xuanwu Hospital, Capital Medical University, No.45 ChangChun Street, XiCheng District, Beijing, 100053, China.

Objective: This study aimed to explore the frequency and distinct characteristics of adult patients with LGI1 antibody-associated encephalitis in the absence of inflammatory abnormalities in both routine CSF analysis and brain MRI.

Methods: We conducted a retrospective study of adult patients with antibodies targeting LGI1 and then screened patients with no evidence of inflammation in brain MRI and normal results in routine CSF analysis, including white blood cell count, protein concentration, IgG, and oligoclonal bands.

Results: Among 80 patients with LGI1 antibody-associated encephalitis in our center, 31 (38. Read More