Search Our Scientific Publications & Authors

Lupus 2022 Jun 23:9612033221108853. Epub 2022 Jun 23.

Department of Pediatric Rheumatology, Faculty of Medicine, 37515Hacettepe University, Ankara, Turkey.

Pediatric primary antiphospholipid syndrome (APS) is a very rare disease with significant distinctions from the APS in adults. Herein, we present our experience in the diagnosis and treatment of six pediatric primary APS patients, who met the updated Sapporo criteria for the APS diagnosis. One of them was also diagnosed as having probable catastrophic APS (CAPS) due to the involvement of three different organ systems simultaneously. Read More

Biomedicines 2022 May 26;10(6). Epub 2022 May 26.

Department of Rheumatology, Emergency Clinical County Hospital Cluj, Centre for Rare Autoimmune and Autoinflammatory Diseases (ERN-ReCONNET), 400347 Cluj-Napoca, Romania.

Glucose transporter type 1 (Glut1) is the main transporter involved in the cellular uptake of glucose into many tissues, and is highly expressed in the brain and in erythrocytes. Glut1 deficiency syndrome is caused mainly by mutations of the gene, impairing passive glucose transport across the blood-brain barrier. All age groups, from infants to adults, may be affected, with age-specific symptoms. Read More

S D Med 2022 May;75(5):212-215

Department of Pediatrics, University of South Dakota Sanford School of Medicine, Sioux Falls, South Dakota.

A previously healthy 8-year-old Native American female presented with right-sided weakness and joint pain for two weeks. Following an initially unremarkable workup including negative brain and spine MRI she was noticed to have chorea and subsequently diagnosed with acute rheumatic fever (ARF). ARF is a group A streptococcus-related disease that most commonly is a sequelae of pharyngitis. 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

Cardiol Young 2022 Jun 20:1-5. Epub 2022 Jun 20.

Department of Pediatric Cardiology, Necmettin Erbakan University, Meram Medicine Faculty, Konya, Turkey.

Introduction: Acute rheumatic fever is an autoimmune disease that develops due to streptococcal infection. The positive effect of breastfeeding on the development of the child's immune system is well documented. In this study, we aimed to investigate the effect of breast milk intake period on the development of carditis. Read More

J Neurol Sci 2022 Jul 4;438:120274. Epub 2022 May 4.

Department of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, Florence, Italy; IRCCS Fondazione Don Carlo Gnocchi, Florence, Italy. Electronic address:

Centenarians are the best example of successful aging, reaching extreme longevity escaping age-related diseases. Genome sequencing studies provided evidence for genetic factors linked to heathy long life, including genes related to age-dependent diseases. HTT (Huntingtin) gene is linked to Huntington's Disease, but also associated to longevity in capuchins and mice. Read More

Andes Pediatr 2021 Dec 5;92(6):930-936. Epub 2021 Nov 5.

Servicios Médicos Yunis Turbay y CIA, Bogotá, Colombia.

Introduction: In newborns with respiratory failure and interstitial lung disease, it should be approached as chILD (Childhood Interstitial Lung Disease) syndrome to rule out alterations in surfactant metabolism and brain-lung-thyroid syndrome caused by pathogenic variants in the NKX2-1 gene.

Objective: To pre sent a newborn with chILD syndrome and a large deletion in chromosome 14q12-q21.1. Read More

JAMA Netw Open 2022 04 1;5(4):e227074. Epub 2022 Apr 1.

BK21 FOUR Community-Based Intelligent Novel Drug Discovery Education Unit, College of Pharmacy and Research Institute of Pharmaceutical Sciences, Kyungpook National University, Daegu, South Korea.

Importance: Little evidence exists on neurological adverse events (movement disorders and seizures) that occur during adjuvant use of antipsychotics with antidepressants, especially in children and adolescents.

Objective: To assess the association between neurological adverse events (movement disorders, including parkinsonism, dystonia, extrapyramidal symptoms, chorea, and tic, and seizures) and the adjuvant use of antipsychotics in children and adolescents with depression.

Design, Setting, And Participants: A retrospective cohort study using the Health Insurance Review and Assessment claims database in Korea between 2008 and 2018. Read More

Soa Chongsonyon Chongsin Uihak 2022 Apr;33(2):27-34

Department of Psychiatry, Jeonbuk National University Hospital, Jeonju, Korea.

Stimulants, such as amphetamine and methylphenidate, are one of the most effective treatment modalities for attention deficit hyperactivity disorder (ADHD) and may cause various movement disorders. This review discusses various movement disorders related to stimulant use in the treatment of ADHD. We reviewed the current knowledge on various movement disorders that may be related to the therapeutic use of stimulants in patients with ADHD. Read More

Neuropediatrics 2022 Apr 6. Epub 2022 Apr 6.

Pediatric neurology, University Hospital Antwerp, Edegem, Belgium.

Chorea is considered a non-thrombotic manifestation of the antiphospholipid syndrome, often preceding thrombotic events in children. It can be present in up to 5% of pediatric patients with antiphospholipid syndrome. Immunomodulatory treatment regimens seem to be successful in these patients, emphasizing the underlying immunological etiology. Read More

J Huntingtons Dis 2022 ;11(2):173-178

Department of Psychiatry, University of Iowa Hospital and Clinics, Iowa City, IA, USA.

Background: Molecular studies provide evidence that mutant huntingtin (mHTT) affects early cortical development; however, cortical development has not been evaluated in child and adolescent carriers of mHTT.

Objective: To evaluate the impact of mHTT on the developmental trajectories of cortical thickness and surface area.

Methods: Children and adolescents (6-18 years) participated in the KidsHD study. Read More

J Child Neurol 2022 May 9;37(6):491-496. Epub 2022 Mar 9.

Department of Pediatrics (Neurology Division), 28856Lady Hardinge Medical College, New Delhi, India.

Subacute sclerosing panencephalitis is a progressive devastating condition due to persistence of mutant measles virus, affecting children and adolescents, characterised by myoclonus, seizures, and neuropsychiatric issues. Movement disorders apart from myoclonus are reportedly uncommon. We aimed to describe frequency and proportion of movement disorders among children with subacute sclerosing panencephalitis, hypothesizing that these occur more frequently than previously reported. Read More

Pediatr Rheumatol Online J 2022 Feb 14;20(1):13. Epub 2022 Feb 14.

Research Unit in Immunology and Infectology, National Medical Center La Raza, IMSS, Mexico City, México.

Objective: Describe the frequency of thrombotic and non-thrombotic clinical manifestations, laboratory, treatment and prognosis in patients with pediatric primary antiphospholipid syndrome.

Material And Methods: A retrospective study was carried out in patients with a diagnosis of primary antiphospholipid antibody syndrome, under 16 years of age, under follow-up by the pediatric rheumatology service of the General Hospital, National Medical Center, La Raza, from January 2013 to December 2020. The antiphospholipid syndrome was defined when it met the laboratory criteria of the Sidney criteria and the presence of thrombosis or non-criteria manifestations of the disease (hematological, neurological, cutaneous, renal, cardiac or pulmonary). Read More

Front Genet 2022 25;13:815210. Epub 2022 Jan 25.

Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.

Ataxia-telangiectasia (AT) is a complex neurodegenerative disease with an increased risk for bone marrow failure and malignancy. AT is caused by biallelic loss of function variants in , which encodes a phosphatidylinositol 3-kinase that responds to DNA damage. Herein, we report a child with progressive ataxia, chorea, and genome instability, highly suggestive of AT. Read More

Eur J Paediatr Neurol 2022 Mar 13;37:40-45. Epub 2022 Jan 13.

Department of Neurology, Bangur Institute of Neurology, IPGMER SSKM Hospital, Kolkata, West Bengal, India. Electronic address:

Purpose: The spectrum of movement disorders associated with anti N-Methyl-d-Aspartate-Receptor (NMDAR) encephalitis is myriad, particularly in children, possibilities of which were investigated from two tertiary care centres.

Methods: A retrospective study was conducted in two tertiary referral centres in Eastern India, analysing data of 8 paediatric patients diagnosed as anti NMDAR encephalitis, presenting with one or more movement disorders (MDs).

Results: All the patients were of Bengali ethnicity with a median age of 9 years (3-16 years) and with female predilection (62. Read More

Mov Disord 2022 04 29;37(4):799-811. Epub 2021 Dec 29.

Institute of Medical Statistics and Computational Biology, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.

Background: Patients with dyskinetic cerebral palsy are often severely impaired with limited treatment options. The effects of deep brain stimulation (DBS) are less pronounced than those in inherited dystonia but can be associated with favorable quality of life outcomes even in patients without changes in dystonia severity.

Objective: The aim is to assess DBS effects in pediatric patients with pharmacorefractory dyskinetic cerebral palsy with focus on quality of life. Read More

Cell Rep 2021 12;37(10):110078

Program of Genetics & Genome Biology, The Hospital for Sick Children, PGCRL, Toronto, Canada, 686 Bay Street, Toronto, ON M5G 0A4, Canada; Program of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada. Electronic address:

Ongoing inchworm-like CAG and CGG repeat expansions in brains, arising by aberrant processing of slipped DNAs, may drive Huntington's disease, fragile X syndrome, and autism. FAN1 nuclease modifies hyper-expansion rates by unknown means. We show that FAN1, through iterative cycles, binds, dimerizes, and cleaves slipped DNAs, yielding striking exo-nuclease pauses along slip-outs: 5'-C↓A↓GC↓A↓G-3' and 5'-C↓T↓G↓C↓T↓G-3'. Read More

Mov Disord 2022 03 24;37(3):545-552. Epub 2021 Nov 24.

China Paroxysmal Dyskinesia Collaborative Group (CPDCG), Shanghai, China.

Background: Paroxysmal kinesigenic dyskinesia (PKD) is the most common type of paroxysmal dyskinesias. Only one-third of PKD patients are attributed to proline-rich transmembrane protein 2 (PRRT2) mutations.

Objective: We aimed to explore the potential causative gene for PKD. Read More

Eur J Paediatr Neurol 2022 Jan 6;36:1-6. Epub 2021 Nov 6.

Pediatric Rheumatology, Pediatric University Department, Azienda Ospedaliera Universitaria Pisana, University of Pisa, Pisa, Italy.

Objectives: Sydenham's Chorea (SC) is a neuropsychiatric disorder and a major manifestation of acute rheumatic fever. The erroneous assumption that SC is a benign and self-limiting disease, has led to a lack of high-quality scientific evidence of the therapeutical and prognostic features of SC.

Study Design: We retrospectively analyzed the medical records of patients <18-years old with SC in 17 Italian pediatric centers. Read More

J Pediatr Endocrinol Metab 2022 Mar 28;35(3):411-415. Epub 2021 Oct 28.

Department of Medical and Surgical Sciences of the Mothers, Post Graduate School of Pediatrics, Children and Adults, University of Modena and Reggio Emilia, Modena, Italy.

Objectives: Benign Hereditary Chorea (BHC) (MIM 118700) is a rare childhood-onset movements disorder characterized by non-progressive chorea. It is usually caused by variants in the thyroid transcription factor 1 (TITF-1/NKX2-1) gene and it is associated with thyroid dysfunction and pulmonary symptoms in the brain-lung-thyroid syndrome.

Case Presentation: We reported the clinical case of a toddler presenting with neurological symptoms (hypotonia, delayed motor milestones, and axial dystonia) and subclinical hypothyroidism in which we found a '' variant in the NKX2-1 gene. Read More

Parkinsonism Relat Disord 2021 11 11;92:67-71. Epub 2021 Oct 11.

Movement Disorders Unit, Hospital de Clínicas, Federal University of Paraná (UFPR), Curitiba, PR, Brazil.

Background: Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare autosomal dominant spinocerebellar ataxia caused by pathological expansion of CAG trinucleotide repeats in the ATN1 gene. Most cases were described in patients from Japanese ancestry who presented with adult-onset progressive cerebellar ataxia associated with cognitive impairment, choreoathetosis and other movement disorders. DRPLA has been rarely described in Brazilian patients. Read More

Pediatr Int 2022 Jan;64(1):e15035

Department of Child and Adolescent Psychiatry, Bezmialem Vakif University, Istanbul, Turkey.

Background: Acute rheumatic fever (ARF) is a multisystemic inflammatory disease in children and young adults. The most notable complications of ARF are rheumatic heart disease (RHD) and Sydenham's chorea (SC). There have been many reports about executive dysfunctions with children who have SC. Read More

Neuropediatrics 2022 04 21;53(2):129-132. Epub 2021 Oct 21.

Division of Neurology, Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.

Glucose transporter type-1 deficiency syndrome (Glut1 DS) is a rare disorder with various manifestations. Early diagnosis is crucial because treatment with the ketogenic diet can lead to clinical improvement. Here, we report the cases of two siblings with Glut1 DS and one of them presented with sleep disorder which is a rare and atypical manifestation of Glut1 DS. Read More

JAMA Netw Open 2021 10 1;4(10):e2129397. Epub 2021 Oct 1.

Teva Pharmaceuticals, Netanya, Israel.

Importance: Tourette syndrome is a neurodevelopmental disorder characterized by childhood onset of motor and phonic tics, often accompanied by behavioral and psychiatric comorbidities. Deutetrabenazine is a vesicular monoamine transporter 2 inhibitor approved in the US for the treatment of chorea associated with Huntington disease and tardive dyskinesia.

Objective: To report results of the ARTISTS 2 (Alternatives for Reducing Tics in Tourette Syndrome 2) study examining deutetrabenazine for treatment of Tourette syndrome. Read More

JAMA Netw Open 2021 10 1;4(10):e2128204. Epub 2021 Oct 1.

Teva Pharmaceuticals, Netanya, Israel.

Importance: Tourette syndrome is a neurodevelopmental disorder characterized by childhood onset of motor and phonic tics; treatments for tics are associated with safety concerns. Deutetrabenazine is a selective vesicular monoamine transporter 2 inhibitor approved for the treatment of chorea associated with Huntington disease and tardive dyskinesia in adults.

Objective: To examine whether deutetrabenazine is effective and safe for the treatment of Tourette syndrome in children and adolescents. Read More

World Neurosurg 2021 12 1;156:103-104. Epub 2021 Oct 1.

Hospital of Clinical Complex, Federal University of Parana, Curitiba-PR, Brazil.

Moyamoya disease is a cerebral angiopathy characterized by bilateral progressive narrowing of internal carotid arteries, developing collateral vessels with the aspect of a "puff of smoke." The presentation with movement disorders is extremely rare. We present the case of an 11-year-old girl with low academic performance who complained of involuntary movements starting in her right hand. Read More

Pediatr Emerg Care 2021 Nov;37(11):e719-e725

Child and Adolescent Neurology Department of Neurology, National Institute of Neurology, Tunis, Tunisia.

Objectives: Acute movement disorders (AMD) are frequent in neurological and pediatric emergencies. Few studies analyzed AMD in children, none in Tunisia or other African country. The purpose of this study was to describe the peculiarities of AMD in a Tunisian pediatric population with a literature review. Read More

Z Rheumatol 2022 May 1;81(4):339-341. Epub 2021 Sep 1.

Department of Pediatrics, Dr. Sami Ulus Maternity and Children's Health and Diseases Training and Research Hospital, Babür Caddesi No: 41, Ankara, Turkey.

Involuntary movement disorders are rare in childhood. Hyperkinetic movement disorders including chorea stand as the leading cause. Although Sydenham chorea is the major diagnosis in most children and adolescents, appropriate differential diagnosis is fundamental for a final decision. Read More

Lancet Glob Health 2021 10 19;9(10):e1423-e1430. Epub 2021 Aug 19.

Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA; The University of Cincinnati School of Medicine, Cincinnati, OH, USA. Electronic address:

Background: Acute rheumatic fever is infrequently diagnosed in sub-Saharan African countries despite the high prevalence of rheumatic heart disease. We aimed to determine the incidence of acute rheumatic fever in northern and western Uganda.

Methods: For our prospective epidemiological study, we established acute rheumatic fever clinics at two regional hospitals in the north (Lira district) and west (Mbarara district) of Uganda and instituted a comprehensive acute rheumatic fever health messaging campaign. Read More

Expert Rev Neurother 2021 08 18;21(8):913-922. Epub 2021 Aug 18.

Department of Neurology, Johns Hopkins Medicine and Kennedy Krieger Institute, Baltimore, MD, USA.

Sydenham's chorea is an autoimmune chorea emerging after a group A beta-hemolytic streptococcal (GABHS) infection, i.e. a rheumatic chorea with or without the presence of carditis or arthritis. Read More