Search Our Scientific Publications & Authors

Mov Disord 2021 06;36(6):1472-1473

1st Neurology Clinic, Eginition Hospital, National and Kapodistrian University of Athens, Medical School, Athens, Greece.

Mov Disord 2021 06;36(6):1473-1474

Expertise Center Movement Disorders Groningen, University Medical Center Groningen, Groningen, the Netherlands.

Cureus 2021 May 12;13(5):e14990. Epub 2021 May 12.

Psychiatry, Liaquat National Hospital and Medical College, Karachi, PAK.

Sydenham chorea (SC) is common in childhood with extensive differential diagnoses, including inherited disease, autoimmunity, endocrine disorders, and infections. SC due to acute rheumatic fever (ARF) is rare. Herein, we present a case of SC in an eight-year-old child who presented with choreiform movements of her face and limbs, including facial grimacing, difficulty walking, and slurred speech. Read More

Zhonghua Er Ke Za Zhi 2021 Jun;59(6):506-510

Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.

To summarize the genotype and phenotype of epilepsy in patients with interferon regulatory factor 2 binding protein-like (IRF2BPL) gene variants. Data of 6 epilepsy patients with IRF2BPL gene variants seen from May 2017 to September 2020 in the Department of Pediatrics of Peking University First Hospital were retrospectively collected. The clinical characteristics and genetic test results were analyzed. Read More

J Trop Pediatr 2021 05;67(2)

Department of Pediatrics, Midnapore Medical College, West Bengal 721101, India.

Acute disseminated encephalomyelitis (ADEM) is a monophasic demyelinating disorder of central nervous system occurring in children with a wide range of clinical manifestations after infection or vaccination. There are few case reports in literature, describing atypical presentations of ADEM with fever of unknown origin, autonomic dysfunction, complex movement disorders such as myoclonus, dystonia and chorea, acute psychosis and myocarditis. Here, we report four cases of ADEM with atypical features like uniocular blindness, myelin oligodendrocyte glycoprotein antibodies negative multiphasic disseminated encephalomyelitis, ADEM mimicking Guillain-Barre syndrome at presentation and isolated spinal ADEM. Read More

Indian J Pediatr 2021 Jun 7. Epub 2021 Jun 7.

Department of Pediatrics (Neurology Division), Lady Hardinge Medical College and Associated Hospitals, New Delhi, India.

Objectives: To detail the spectrum of movement disorders (MD) among children with cerebral palsy (CP) and assess impact on functional status.

Methods: In this cross-sectional study, children with CP were recruited and examined for various MDs. Tone abnormality was assessed using Hypertonia Assessment Tool (HAT), functional status using Gross Motor Function Classification System Expanded and Revised (GMFCS E&R), Manual Ability Classification System (MACS), and Communication Function Classification System (CFCS). Read More

J Clin Med 2021 May 12;10(10). Epub 2021 May 12.

IRCCS Fondazione Stella Maris, 56018 Pisa, Italy.

Movement disorders are increasingly being recognized as a manifestation of childhood-onset mitochondrial diseases (MDs). However, the spectrum and characteristics of these conditions have not been studied in detail in the context of a well-defined cohort of patients. We retrospectively explored a cohort of individuals with childhood-onset MDs querying the Nationwide Italian Collaborative Network of Mitochondrial Diseases database. Read More

Indian Pediatr 2021 May 20. Epub 2021 May 20.

Department of Neuroscience, Monash University, Clayton, Australia.

Context: Movement disorders represent a common presentation in pediatrics and are often a source of clinical and diagnostic dilemmas. In this review, we provide an overview of common causes along with simplified clinical approach and management options for major movement disorders.

Sources: This narrative review is based on contemporary evidence and personal experience. Read More

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2021 May;38(5):446-449

Center of Genetics and Prenatal Diagnosis, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China.

Objective: To explore the genetic basis for two Chinese pedigrees affected with Huntington disease and provide prenatal diagnosis for them.

Methods: Peripheral venous blood samples were collected from the probands. PCR and capillary gel electrophoresis were used to determine the number of CAG repeats in their IT15 gene. 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

Neurol India 2021 Mar-Apr;69(2):272-283

Department of Neurology, Govind Ballabh Pant Postgraduate Institute of Medical Education and Research, New Delhi, India.

Involuntary movements develop after 1-4% of strokes and they have been reported in patients with ischemic and hemorrhagic strokes affecting the basal ganglia, thalamus, and/or their connections. Hemichorea-hemiballism is the most common movement disorder following a stroke in adults while dystonia is most common in children. Tremor, myoclonus, asterixis, stereotypies, and vascular parkinsonism are other movement disorders seen following stroke. Read More

Cerebellum 2021 Apr 24. Epub 2021 Apr 24.

Division of Allergology, Pulmonology and Cystic Fibrosis, Department for Children and Adolescents, Goethe University, Frankfurt, Germany.

Ataxia telangiectasia (A-T) is a progressive and life-limiting disease associated with cerebellar ataxia due to progressive cerebellar degeneration. In addition to ataxia, which is described in detail, the presence of chorea, dystonia, oculomotor apraxia, athetosis, parkinsonism, and myoclonia are typical manifestations of the disease. The study aimed to evaluate the specificity and sensitivity of neurofilament light chain (NfL) as a biomarker of neurodegeneration in relation to SARA score. Read More

Sudan J Paediatr 2021 ;21(1):76-81

Division of Pediatric Neurology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

Anti-N-methyl-D-aspartate (anti-NMDA) receptor encephalitis is an immune-mediated syndrome that is still under-recognised, with grave consequences if not treated early. A multidisciplinary team approach is required in the process of diagnosis and management of this potentially treatable and reversible disorder. We report on a 26-month-old Sudanese girl who presented with focal seizures associated with fever (temperature = 38. Read More

Curr Probl Pediatr Adolesc Health Care 2021 Mar 5;51(3):100983. Epub 2021 Apr 5.

Pediatric Movement Disorders Clinic, Section of Pediatric Neurology and Developmental Neuroscience, Texas Children's Hospital and Baylor College of Medicine, Houston, TX, United States. Electronic address:

Movement disorders presenting in childhood include tics, dystonia, chorea, tremor, stereotypy, myoclonus, and parkinsonism, each of which can be part of various clinical syndromes with distinct etiologies.  Some of these conditions are benign and require only reassurance; others are bothersome and require treatment, or may be clues that herald underlying pathology.  Answers lie in the inherent characteristics of the movements themselves, together with the clinical context provided in the history obtained by the examiner. Read More

BMC Infect Dis 2021 Apr 7;21(1):322. Epub 2021 Apr 7.

Department of Paediatrics, Hospital Universitario Clínico San Carlos, Madrid, Spain.

Background: Despite a notable decrease in acute rheumatic fever (ARF) incidence in the past few decades, there are still cases in our setting. Sydenham chorea (SC) may be the initial manifestation for this condition in childhood in a significant proportion of children. We report two cases of choreoathetosis in children as the first manifestation of ARF. Read More

Mov Disord Clin Pract 2021 Apr 5;8(3):453-455. Epub 2021 Feb 5.

Department of Neurology, Movement Disorder and Neuromodulation Unit Charité - Universitätsmedizin Berlin Berlin Germany.

J Clin Med 2021 Mar 17;10(6). Epub 2021 Mar 17.

Pediatric Rheumatology, Institute of Rheumatology, Tokyo Women's Medical University, Tokyo 162-8666, Japan.

Antiphospholipid syndrome (APS) is a systemic autoimmune disorder mainly characterised by increased risks of thrombosis and pregnancy morbidity and persistent positive test results for antiphospholipid antibodies (aPLs). The criteria for diagnosing juvenile APS have yet to be validated, while the Sydney classification criteria do not contain several non-thrombotic clinical manifestations associated with the presence of aPLs. As such, difficulties have been encountered in the diagnosis of patients who have no certain thrombotic occlusions. Read More

J Clin Neurosci 2021 Apr 27;86:58-63. Epub 2021 Jan 27.

Department of Neuroscience, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, Florence, Italy.

Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by a CAG expansion greater than 35 triplets in the IT-15 gene, with a clinical onset usually in the forties. Late-onset form of HD is defined as disease onset after the age of 59 years. The aim of the present study is to investigate the clinical-demographic features of Late-onset HD population (LoHD) in comparison to Classic-onset patients (CoHD). Read More

Front Med (Lausanne) 2021 24;8:621668. Epub 2021 Feb 24.

Department of Pediatrics, Desio Hospital, Azienda Socio Sanitaria Territoriale Monza, Monza, Italy.

Acute rheumatic fever (ARF) is a non-septic complication of group A β-hemolytic streptococcal (GAS) throat infection. Since 1944, ARF diagnosis relies on the Jones criteria, which were periodically revised. The 2015 revision of Jones criteria underlines the importance of knowing the epidemiological status of its own region with updated data. Read More

Seizure 2021 Feb 24. Epub 2021 Feb 24.

Department of Neurology, FCM, University of Campinas (UNICAMP), and the Brazilian Institute of Neuroscience and Neurotechnology (BRAINN), Campinas, SP, Brazil. Electronic address:

Objective: To identify clinical variables that could predict the presence of autoantibodies in patients with acute encephalitis.

Methods: An observational, retrospective study from May 2011 to May 2017. Clinical, EEG, brain MRI data, and antibodies against human neuronal antigens (NMDAR, GABAR, AMPAR, LGI1, CASPR2, and GAD) from 158 patients with criteria for possible autoimmune encephalitis were analyzed to create a predictive model for this disease. Read More

Eur J Paediatr Neurol 2021 Mar 16;31:21-26. Epub 2021 Jan 16.

Baylor College of Medicine, Department of Pediatric Neurology and Developmental Neuroscience, Houston, TX, USA.

Pathogenic variants in ATP1A2, a gene encoding the α subunit of the Na,K-ATPase, cause familial hemiplegic migraine type 2 (FHM2). In contrast, pathogenic variants in ATP1A3, an ATP1A2 paralog, cause alternating hemiplegia of childhood (AHC), a severe neurodevelopmental disorder with infantile onset hemiplegic attacks, seizures, dystonia, chorea and developmental delay. Despite high sequence homology with ATP1A3, ATP1A2 variants rarely associate with severe phenotypes resembling those linked to ATP1A3. Read More

Biol Psychiatry 2021 04 18;89(8):807-816. Epub 2020 Nov 18.

Huntington's Disease Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.

Background: Characterizing changing brain structure in neurodegeneration is fundamental to understanding long-term effects of pathology and ultimately providing therapeutic targets. It is well established that Huntington's disease (HD) gene carriers undergo progressive brain changes during the course of disease, yet the long-term trajectory of cortical atrophy is not well defined. Given that genetic therapies currently tested in HD are primarily expected to target the cortex, understanding atrophy across this region is essential. Read More

Lupus 2021 Mar 7;30(3):502-509. Epub 2021 Jan 7.

Department of Pediatric Rheumatology and Nephrology, Dr Sami Ulus Maternity and Child Health and Diseases Training and Research Hospital, Ankara, Turkey.

Pediatric-onset systemic lupus erythematosus is among the prototypic systemic autoimmune diseases seen in children. Although the neuropsychiatric involvement rate varies during the course of the disease, it is an important cause of morbidity and mortality. The clinical picture of neuropsychiatric SLE (NPSLE) is highly variable, and neurological features can precede systemic findings, leading to some diagnostic difficulties. Read More

Neurotherapeutics 2020 10 6;17(4):1713-1723. Epub 2021 Jan 6.

Department of Neurology, Division of Child Neurology, Louisiana State University Health Sciences Center at New Orleans, Children's Hospital, 200 Henry Clay Ave., New Orleans, LA, 70118, USA.

Pediatric movement disorders (PMDs) consist of a heterogeneous group of signs and symptoms caused by numerous neurological diseases. Different neurological disorders in children also share overlapping movement disorders making a diagnosis of the underlying cause of the movement disorder challenging. The similarity of the symptoms across multiple disease types suggests that there may be a final common motor pathway causing the overlapping movement disorders. Read More

Child Neurol Open 2020 Jan-Dec;7:2329048X20979248. Epub 2020 Dec 15.

Division of Pediatric Neurology, Department of Neurology, Indiana University School of Medicine, Indianapolis, IN, USA.

Background: The impact of basal ganglia stroke on mental health is better described in adults than in children. We report 2 children with significant mental health issues after basal ganglia stroke.

Case Reports: Patient 1, an 8-year-old boy, had mild anxiety before his left basal ganglia stroke. Read More

Case Rep Genet 2020 9;2020:6630300. Epub 2020 Dec 9.

Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.

Introduction: Ataxia telangiectasia is a rare genetic condition with an estimated prevalence of 1 in 40,000-100,000 live births. This condition predominantly affects the nervous and immune systems. It is characterized by progressive ataxia beginning from early childhood. Read More

Mov Disord 2021 04 16;36(4):1028-1029. Epub 2020 Dec 16.

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

Ann Neurol 2021 03 24;89(3):573-586. Epub 2020 Dec 24.

Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA.

Objective: We aimed to characterize the phenotypic spectrum and functional consequences associated with variants in the gene GABRB2, coding for the γ-aminobutyric acid type A (GABA ) receptor subunit β2.

Methods: We recruited and systematically evaluated 25 individuals with variants in GABRB2, 17 of whom are newly described and 8 previously reported with additional clinical data. Functional analysis was performed using a Xenopus laevis oocyte model system. Read More

Orphanet J Rare Dis 2020 12 9;15(1):343. Epub 2020 Dec 9.

Division of Pediatric Neurology, Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul, Korea.

Background: GNAO1 encephalopathy is a rare neurodevelopmental disorder characterized by distinct movement presentations and early onset epileptic encephalopathy. Here, we report the in-depth phenotyping of genetically confirmed patients with GNAO1 encephalopathy, focusing on movement presentations.

Results: Six patients who participated in Korean Undiagnosed Disease Program were diagnosed to have pathogenic or likely pathogenic variants in GNAO1 using whole exome sequencing. Read More

Dev Med Child Neurol 2021 Mar 5;63(3):252-258. Epub 2020 Nov 5.

Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.

Paediatric movement disorders (PMDs) comprise a large group of disorders (tics, myoclonus, tremor, dystonia, chorea, Parkinsonism, ataxia), often with mixed phenotypes. Determination of the underlying aetiology can be difficult given the broad differential diagnosis and the complexity of the genotype-phenotype relationships. This can make the diagnostic process time-consuming and difficult. Read More