Search Our Scientific Publications & Authors

J Emerg Med 2019 Apr 16. Epub 2019 Apr 16.

Department of Emergency Medicine, UPMC Hamot, University of Pittsburgh Medical Center (UPMC), Erie, Pennsylvania.

Background: Sydenham's chorea is the most common acquired movement disorder of adolescence. This clinical manifestation of acute rheumatic fever has a clear and documented relationship with Group A streptococcal infections. The symptoms are involuntary choreiform movements that can affect the face and all extremities. Read More

Neurology 2019 Apr 10;92(17):e1939-e1947. Epub 2019 Apr 10.

From the Departments of Psychiatry (A.T., E.E., V.M., P.E.-P., E.M.), Radiology (V.M.), Neurology (K.M., P.E.-P.), and Pediatrics (K.M.), University of Iowa Hospitals and Clinics, Iowa City; Department of Biostatistics (J.D.), University of Iowa College of Public Health, Iowa City; and Department of Psychiatry and Behavioral Sciences (W.D.), Johns Hopkins University, Baltimore, MD.

Objective: To assess brain morphometry in a sample of patients with juvenile-onset Huntington disease (JOHD) and several mouse models of Huntington disease (HD) that likely represent the human JOHD phenotype.

Methods: Despite sharing the mutation in the Huntingtin gene, adult-onset HD characteristically presents as a hyperkinetic motor disorder, while JOHD typically presents as a hypokinetic motor disease. The University of Iowa Kids-JHD program enrolls individuals 5 to 25 years of age who have already received the clinical diagnosis. Read More

J Pediatr Neurosci 2018 Oct-Dec;13(4):514-516

Department of Neurology, Institute of Human Behaviour and Allied Sciences, New Delhi, India.

Case: Moyamoya disease (MMD) is a neurological disease involving internal carotid artery (ICA) leading to its occlusion. Among the children, the disease presents as ischemic strokes, whereas in adults, it presents as hemorrhagic strokes. Movement disorder among the MMD is very rare with varied presentation. Read More

J Pediatr Neurosci 2018 Oct-Dec;13(4):423-428

Department of Neuromicrobiology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India.

Introduction: A neuropsychiatric syndrome characterized by a wide spectrum of clinical manifestations. It is seen in patients with antibodies against NR1-NR2 heteromers of the NMDA receptor. As the spectrum is mainly psychiatric most patients are treated as psychiatric disease resulting in huge diagnostic delay. Read More

Brain 2019 Mar 26. Epub 2019 Mar 26.

Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

Disruption of cellular iron homeostasis can contribute to neurodegeneration. In mammals, two iron-regulatory proteins (IRPs) shape the expression of the iron metabolism proteome. Targeted deletion of Ireb2 in a mouse model causes profoundly disordered iron metabolism, leading to functional iron deficiency, anemia, erythropoietic protoporphyria, and a neurodegenerative movement disorder. Read More

Mov Disord Clin Pract 2018 May-Jun;5(3):343-345. Epub 2018 Apr 6.

University of Lübeck, Institute of Neurogenetics, Department of Pediatric and Adult Movement Disorders and Neuropsychiatry 23562, Lübeck DE.

Child Neurol Open 2019 12;6:2329048X19828881. Epub 2019 Feb 12.

Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Pisa, Italy.

mutations have been usually associated with a non-progressive neurological disease. Recent reports revealed a vast variability regarding its clinical expressivity. Aim of this work was widening the Benign Hereditary Chorea neurological, cognitive and behavioral phenotype through the description of a child and her family pedigree. Read More

Disabil Rehabil Assist Technol 2019 Feb 7:1-6. Epub 2019 Feb 7.

a Department of Community Health Science, Graduate School of Health Science , Kobe University , Kobe , Japan.

Purpose: Children with cerebral palsy may face difficulties using handheld pointing devices, due to involuntary muscle movements. This study aimed at describing the idea of the new wearable sensor switch and assessing its feasibility as an access solution in a case of mixed-type cerebral palsy.

Methods: The study participant was a 17-year-old male with mixed-type cerebral palsy characterized by chorea-athetotic movements and bilateral spasticity with gross motor function classification system level V. Read More

J Child Adolesc Psychopharmacol 2019 Feb 6. Epub 2019 Feb 6.

1 Child Neuropsychiatry Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal and Children's Sciences, Istituto Giannina Gaslini, University of Genoa, Genoa, Italy.

Objectives: Whether PANS (pediatric acute-onset neuropsychiatric syndrome) and PANDAS (pediatric autoimmune neuropsychiatric disorders associated with streptococcal infection) represent true clinical entities is debated and data for a characteristic phenotype are still controversial. In this study, we aim to characterize clinical, neuropsychological, and biochemical aspects in a sample of PANS and PANDAS patients.

Methods: Patients fulfilling a clinical diagnosis of PANS or PANDAS from 2014 to 2017 were enrolled. Read More

Parkinsonism Relat Disord 2018 Nov 16. Epub 2018 Nov 16.

Department of Pediatrics and Child Neurology and Psychiatry, Sapienza University of Rome, Rome, Italy.

GNAO1 variants were recently discovered as causes of epileptic encephalopathies and heterogeneous syndromes presenting with movement disorders (MDs), whose phenomenology and clinical course are yet undefined. We herein focused on GNAO1-related MD, providing an analytical review of existing data to outline the main MD phenomenology and management, clinical evolution and genotype-phenotype correlations. Reviewing 41 previously published patients and assessing 5 novel cases, a comprehensive cohort of 46 patients was analyzed, reassuming knowledge about genotypes, phenotypes, disease course and treatment of this condition. Read More

Front Cell Neurosci 2018 23;12:429. Epub 2018 Nov 23.

Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, United Kingdom.

Spinocerebellar ataxia type 17 (SCA17) is a rare autosomal dominant neurodegenerative disease caused by a CAG repeat expansion in the TATA-box binding protein gene (). The disease has a varied age at onset and clinical presentation. It is distinct from other SCAs for its association with dementia, psychiatric symptoms, and some patients presenting with chorea. Read More

Mov Disord Clin Pract 2017 Nov-Dec;4(6):819-823. Epub 2017 Sep 8.

Department of Neurology Centro Hospitalar do Porto Porto Portugal.

Background: Chorea may occur as a manifestation of an acute stroke. Patients with vascular-related chorea typically present with an acute or subacute onset of hemichorea, contralateral to the lesion.

Methods And Findings: In this clinico-pathological case, we report a 90-year-old female who presented, at age 81, with a transient episode of generalized chorea. Read More

Parkinsonism Relat Disord 2018 Oct 16. Epub 2018 Oct 16.

Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy; IRCSS Neuromed, Pozzilli, IS, Italy.

Introduction: Although focal motor seizures may resemble one or more movement disorders their phenomenology and prevalence remain uncertain.

Methods: To examine the extent to which focal motor seizures can present with a phenomenology fulfilling diagnostic criteria for movement disorders, 100 consecutive patients with focal motor seizures were rated by movement disorders experts, epileptologists, and general neurologists.

Results: A focal motor seizure phenomenologically manifested as a defined movement disorder in 29% of the patients from a consecutive video-EEG documented cohort as per consensus among experts: myoclonus and dystonia (10 and 9 cases, respectively) were the most common movement disorders, followed by chorea (4), stereotypies (3) myoclonus-dystonia (2), and tremor (1). Read More

Brain Dev 2019 Mar 21;41(3):250-256. Epub 2018 Oct 21.

Child Neurology and Psychiatry Unit, Santa Maria Nuova Hospital IRCCS, Reggio Emilia, Italy.

Background: Molecular technologies are expanding our knowledge about genetic variability underlying early-onset non-progressive choreic syndromes. Focusing on NKX2-1-related chorea, the clinical phenotype and sleep related disorders have been only partially characterized.

Methods: We propose a retrospective and longitudinal observational study in 7 patients with non-progressive chorea due to NKX2-1 mutations. Read More

Case Rep Pediatr 2018 23;2018:6047318. Epub 2018 Sep 23.

Department of Pediatrics, Niigata University, Niigata, Japan.

Immune-mediated central nervous system manifestations of group A -hemolytic (GABHS) infection include Sydenham's chorea, pediatric autoimmune neuropsychiatric disorders associated with streptococcal infection (PANDAS)-which includes tic and obsessive compulsive disorders-and a variety of neurobehavioral disorders. We report a case of subspecies (group G ) (GGS) infection associated with involuntary movements, complex tics, and emotional lability in an 11-year-old Japanese girl. Serum IgM and IgG antibodies to lysoganglioside were positive, and she responded rapidly to intravenous immunoglobulin treatment. Read More

Eur J Hum Genet 2019 01 5;27(1):20-21. Epub 2018 Oct 5.

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Flemington Road, Parkville, 3052, Victoria, Australia.

Neurol Genet 2018 Oct 26;4(5):e265. Epub 2018 Sep 26.

Division of Clinical and Metabolic Genetics (D.C., G.B., R.D.C., S.M.-A.), Department of Pediatrics, Toronto, Ontario, Canada; Department of Medical Genetics (K.S.), University of Alberta, Edmonton, Canada; Department of Pediatrics (A.E., J.K., R.D.C., S.M.-A.), University of Toronto; the Emergency Medicine Division (A.E.), Department of Paediatrics, The Hospital for Sick Children; Division of Neurology (J.K.), Department of Paediatrics, The Hospital for Sick Children,; Genetics and Genome Biology Program (R.D.C., S.M.-A.), Research Institute, The Hospital for Sick Children; and Institute of Medical Sciences (S.M.-A.), University of Toronto, Toronto, Ontario, Canada.

Objective: To identify underlying genetic causes in patients with pediatric movement disorders by genetic investigations.

Methods: All patients with a movement disorder seen in a single Pediatric Genetic Movement Disorder Clinic were included in this retrospective cohort study. We reviewed electronic patient charts for clinical, neuroimaging, biochemical, and molecular genetic features. Read More

Neuropsychology 2018 Nov 13;32(8):958-965. Epub 2018 Sep 13.

Monash Institute of Cognitive and Clinical Neurosciences, School of Psychological Sciences, Monash University.

Objective: Unawareness of neuropsychiatric symptoms appears to be common in Huntington's disease (HD), but the clinical correlates of unawareness are unclear. Identifying predictors of unawareness is important for improving diagnosis of neuropsychiatric symptoms, and cognitive impairment, specifically executive impairment, may be a potential important predictor of unawareness. The authors examined whether unawareness of neuropsychiatric symptoms is more common in early HD compared to premanifest HD, and whether executive task performance was associated with awareness, independent of demographic, motor or mood variables. Read More

Eur J Hum Genet 2019 01 11;27(1):22-27. Epub 2018 Sep 11.

APHP, Genetic Department, Pitié-Salpêtrière University Hospital, Paris, France.

Predictive testing for Huntington disease (HD) in 25% at-risk individuals is testing with full knowledge, and sometimes assuming, that the parent does not want to know his status. The goal of this study was to understand: (1) the differences in the motivation between 25% and 50% at-risk individuals to be tested and (2) the consequences of "double disclosure", including parental reactions. Test requests from 25% at-risk individuals were rare (155/1611, 10%). Read More

Orphanet J Rare Dis 2018 05 31;13(1):86. Epub 2018 May 31.

Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, 555 University Avenue, Toronto, ON, M5G 1X8, Canada.

Background: ATP8A2 mutations have recently been described in several patients with severe, early-onset hypotonia and cognitive impairment. The aim of our study was to characterize the clinical phenotype of patients with ATP8A2 mutations.

Methods: An observational study was conducted at multiple diagnostic centres. Read More

Dev Med Child Neurol 2018 12 28;60(12):1251-1255. Epub 2018 Jun 28.

Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.

Aim: To elucidate the natural course of benign paroxysmal torticollis, the relationship of this disorder to migraine and other paroxysmal diseases, and to analyse candidate genes.

Method: This was a case series of children with benign paroxysmal torticollis of infancy (BPTI) diagnosed from 1998 to 2005, at Astrid Lindgren Children's Hospital, Stockholm, Sweden. A neurological examination and a formalized motor assessment were performed from 2005 to 2007. Read More

Brain Dev 2018 Nov 21;40(10):926-930. Epub 2018 Jun 21.

Department of Pediatrics, Nagoya University Graduate School of Medicine, Japan.

We report on a 4-year-old girl with a de novo GNAO1 mutation who had neurological findings, including decreased spontaneous movements, hypotonia, and dystonic features. She was referred to our hospital because of delayed psychomotor development. She showed hypotonia and decreased spontaneous movements. Read More

Mov Disord Clin Pract 2018 Mar-Apr;5(2):149-155. Epub 2017 Dec 10.

Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

Background: Movement disorders are a significant clinical problem in lysosomal storage diseases (LSD) and account for substantial morbidity. The spectrum of movement disorders in childhood-onset LSD, however, remains poorly defined.

Objectives: To define the spectrum of movement disorders in a well-characterized cohort of children with LSD. Read More

Pediatr Radiol 2018 09 20;48(10):1463-1471. Epub 2018 Jun 20.

Department of Medical Imaging, Rouen University Hospital, 31 rue de Germont, 76000, Rouen, France.

Background: The imaging features of Huntington disease are well known in adults, unlike in juvenile-onset Huntington disease.

Objective: To conduct a morphometric magnetic resonance imaging (MRI) analysis in three juvenile Huntington disease patients (ages 2, 4 and 6 years old) to determine whether quantitative cerebral and cerebellar morphological metrics may provide diagnostically interesting patterns of cerebellar and cerebellar atrophy.

Materials And Methods: We report the cases of three siblings with extremely early presentations of juvenile Huntington disease associated with dramatic expansions of the morbid paternal allele from 43 to more than 100 CAG trinucleotide repeats. Read More

Handb Clin Neurol 2018 ;155:371-377

Department of Pediatric Neurology, University Children's Hospital, University of Zurich, Zurich, Switzerland.

There are no approved disease-modifying therapies for any of the inherited cerebellar ataxias. Drug treatment in childhood ataxia is still very limited. Effective treatments are available for only a few rare metabolic hereditary disorders. Read More

World Neurosurg 2018 Aug 2;116:e1054-e1059. Epub 2018 Jun 2.

Department of Neurosurgery, Seoul National University Hospital, Seoul, Republic of Korea.

Objective: We sought to analyze the long-term outcome of Gamma Knife radiosurgery (GKS) for symptomatic brainstem cavernous malformation (s-BSCM).

Methods: Forty-five patients (14 males, 31 females) were treated with GKS for s-BSCM from January 1998 to December 2011. All patients were followed up for >5 years, and their clinical data were analyzed retrospectively. Read More

Pediatr Neurol 2018 07 20;84:46-48. Epub 2018 Apr 20.

Department of Pediatric Physiotherapy, KLE College of Physiotherapy, Department of Pediatrics and Pediatric Physiotherapy, KLE University's J N Medical College, Belgaum, Karnataka State, India.

Background: Therapeutic options for management of choreoathetoid cerebral palsy, which is a permanent disorder, are limited. Available medications either have significant side effects or are unsuitable for long-term use. Risperidone has shown promise in the management of chorea and has been found to be safe in children less than five years. Read More

Neurol Genet 2018 Jun 18;4(3):e242. Epub 2018 May 18.

Centre for Applied Genomics (S.W., B.T., S.W.S.), The Hospital for Sick Children; Program in Genetics and Genome Biology (S.W., R.D., B.T., S.W.S., B.A.M.), The Hospital for Sick Children, Toronto, Ontario, Canada; Atta-ur Rahman School of Applied Biosciences (R.D., M.J.H.), National University of Sciences and Technology (NUST), Islamabad; Department of Biochemistry (I.M.U.), University of Health Sciences, Lahore; Division of Neurology (A.A.), Shifa International Hospital, Shifa Tameer e Millat University, Islamabad, Pakistan; Department of Molecular Genetics (S.W.S.), University of Toronto; McLaughlin Centre (S.W.S.), University of Toronto, Canada; and Department of Pediatrics (B.A.M.), University of Texas Southwestern, Dallas.

Objective: To determine a molecular diagnosis for a large multigenerational family of South Asian ancestry with seizures, hyperactivity, and episodes of tongue biting.

Methods: Two affected individuals from the family were analyzed by whole-genome sequencing on the Illumina HiSeq X platform, and rare variants were prioritized for interpretation with respect to the phenotype.

Results: A previously undescribed, 1-kb homozygous deletion was identified in both individuals sequenced, which spanned 2 exons of the gene, and was found to segregate in other family members. Read More

Nature 2018 05;557(7707):S44-S45

Neuropediatrics 2018 Aug 25;49(4):246-255. Epub 2018 May 25.

Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel.

Objective:  This article elucidates a clinical and genetic approach to pediatric early-onset chorea in patients with normal neuroimaging.

Methods:  We retrospectively studied patients with onset hyperkinetic movement disorders. Only children with onset of chorea in the first 3 years of life were included, those with an abnormal magnetic resonance imaging (MRI) or electroencephalogram (EEG) were excluded. Read More

Mol Neurodegener 2018 05 21;13(1):25. Epub 2018 May 21.

Research and Development, Teva Pharmaceutical Industries Ltd, Netanya, Israel.

Background: Huntington Disease (HD) is an incurable autosomal dominant neurodegenerative disorder driven by an expansion repeat giving rise to the mutant huntingtin protein (mHtt), which is known to disrupt a multitude of transcriptional pathways. Pridopidine, a small molecule in development for treatment of HD, has been shown to improve motor symptoms in HD patients. In HD animal models, pridopidine exerts neuroprotective effects and improves behavioral and motor functions. Read More

Cochrane Database Syst Rev 2018 May 15;5:CD012430. Epub 2018 May 15.

Department of Neurodevelopment and Disability, The Royal Children's Hospital, 50 Flemington Road, Parkville, Victoria, Australia, 3052.

Background: Cerebral palsy occurs in up to 2.1 of every 1000 live births and encompasses a range of motor problems and movement disorders. One commonly occurring movement disorder amongst those with cerebral palsy is dystonia: sustained or intermittent involuntary muscle spasms and contractions that cause twisting, repetitive movements and abnormal postures. Read More

Semin Pediatr Neurol 2018 04 14;25:82-91. Epub 2018 Feb 14.

Department of Neurology, Section of Child Neurology, Indiana University School of Medicine, Indianapolis, IN; Department of Pediatrics, Section of Developmental Pediatrics, Indiana University School of Medicine, Indianapolis, IN; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN.

Many inherited metabolic diseases or inborn errors of metabolism (IEM) cause movement disorders in children. This review focuses on chorea, dystonia, myoclonus, tremor, and parkinsonism. Broad neurometabolic categories commonly responsible for pediatric movement disorders include mitochondrial cytopathies, organic acidemias, mineral metabolism and transport disorders, neurotransmitter diseases, purine metabolism abnormalities, lipid storage conditions, and creatine metabolism dysfunction. Read More

Semin Pediatr Neurol 2018 04 27;25:75-81. Epub 2017 Dec 27.

Department of Pediatrics, Section of Neurology, St. Christopher's Hospital for Children, Drexel University College of Medicine, Philadelphia, PA. Electronic address:

Paroxysmal dyskinesias (PD) are hyperkinetic movement disorders where patients usually retain consciousness. Paroxysmal dyskinesias can be kinesigenic (PKD), nonkinesigenic (PNKD), and exercise induced (PED). These are usually differentiated from each other based on their phenotypic and genotypic characteristics. Read More

Semin Pediatr Neurol 2018 04 23;25:42-53. Epub 2018 Feb 23.

Department of Neurology, Boston Children's Hospital, Boston, MA; Department of Neurology, Massachusetts General Hospital, Boston, MA. Electronic address:

Chorea is a symptom of a broad array of genetic, structural, and metabolic disorders. While chorea can result from systemic illness and damage to diverse brain structures, injury to the basal ganglia, especially the putamen or globus pallidus, appears to be a uniting features of these diverse neuropathologies. The timing of onset, rate of progression, and the associated neurological or systemic symptoms can often narrow the differential diagnosis to a few disorders. Read More

Rev Neurol 2018 May;66(9):321-322

Hospital de Dona Estefania, Lisboa, Portugal.

Rheumatol Int 2018 Jun 23;38(6):1089-1094. Epub 2018 Apr 23.

Pediatrics Rheumatoloy Unit, Department of Pediatrics, São Paulo Federal University, São Paulo, SP, Brazil.

Juvenile-Takayasu arteritis (j-TA) is a difficult diagnosis and some patients develop uncommon manifestations and associated diseases that may contribute to the delayed diagnosis. Our aim was to identify the misdiagnoses, the associated diseases and the atypical manifestations observed in a j-TA Brazilian multicentre study. 71 children and adolescents who met the classification criteria for j-TA were included. Read More

EBioMedicine 2018 May 30;31:47-53. Epub 2018 Mar 30.

Department of Psychiatry, University of Iowa Carver College of Medicine, Iowa City, IA, United States; Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, IA, United States; Department of Neurology, University of Iowa Carver College of Medicine, Iowa City, IA, United States. Electronic address:

Background: Huntington's Disease (HD) is caused by an abnormality in the HTT gene. This gene includes trinucleotide repeats ranging from 10 to 35, and when expanded beyond 39, causes HD. We previously reported that CAG repeats in the normal range had a direct and beneficial effect on brain development with higher repeats being associated with higher cognitive function. Read More

Hum Mol Genet 2018 06;27(12):2125-2137

Institute of Nuclear Science Applied to Health, University of Coimbra, 3000-548 Coimbra, Portugal.

Huntington's disease (HD) is a neurodegenerative disorder causing cognitive and motor impairments, evolving to death within 15-20 years after symptom onset. We previously established a mouse model with the entire human HD gene containing 128 CAG repeats (YAC128) which accurately recapitulates the natural history of the human disease. Defined time points in this natural history enable the understanding of longitudinal trajectories from the neurochemical and structural points of view using non-invasive high-resolution multi-modal imaging. Read More

Dev Med Child Neurol 2018 06 14;60(6):533. Epub 2018 Apr 14.

Neurosciences Centre, Al Jalila Children's Specialty Hospital, Dubai, UAE.

Brain Dev 2018 Aug 3;40(7):576-581. Epub 2018 Apr 3.

Sanin Rosai Hospital, Yonago, Japan.

A 38-year-old female patient experienced recurrent episodes of neurological deterioration during febrile illness at the age of 7 and 8 months, and 2, 4, and 37 years. Acute symptoms comprised unconsciousness, headache, abnormal ocular movements, flaccid paralysis with areflexia, ataxia, dysphagia, and movement disorders. Each episode of neurological deterioration was followed by partial recovery with residual symptoms of progressive disturbance of visual acuity with optic atrophy and hearing loss, moderate intellectual disability, strabismus, ophthalmoplegia, as well as fluctuating degree of gait ataxia, chorea, tremor, and myoclonus. Read More

Neuroscience 2018 06 4;380:146-151. Epub 2018 Apr 4.

Jan and Dan Duncan Neurological Research Institute, Texas Children Hospital, Department of Neuroscience, Baylor College of Medicine, 1250 Moursund St, Houston, TX 77030, United States. Electronic address:

Receptor for advanced glycation end products (RAGE) is a multi-ligand receptor involved in the pathology of several progressive neurodegenerative disorders including Huntington's disease (HD). We previously showed that the expression of RAGE and its colocalization with ligands were increased in the striatum of HD patients, increasing with grade severity, and that the pattern of RAGE expression coincided with the medio-lateral pattern of neurodegeneration. However, the exact role of RAGE in HD remains elusive. Read More

Eur J Med Genet 2018 Oct 3;61(10):581-584. Epub 2018 Apr 3.

Molecular Neurogenetics, Foundation IRCCS Neurological Institute Besta, Milan, Italy; Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy. Electronic address:

Heterozygous point mutations or deletions of the NKX2-1 gene cause benign hereditary chorea (BHC) or a various combinations of primary hypothyroidism, respiratory distress and neurological disorders. Deletions proximal to, but not encompassing, NKX2-1 have been described in few subjects with brain-lung-thyroid syndrome. We report on a three-generation Italian family, with 6 subjects presenting BHC and harboring a genomic deletion adjacent to NKX2-1 and including the gene MBIP, recently proposed to be relevant for the pathogenesis of brain-lung-thyroid syndrome. Read More

Mol Diagn Ther 2018 06;22(3):353-359

Department of Molecular Pathology, Metropolis Healthcare Ltd, Commercial Building A, Unit No. 409 to 416, 4th Floor, Kohinoor City, Near Kohinoor Mall, Kirol Road, Kurla-W, Mumbai, 400 070, India.

Background: Huntington's disease (HD) is an autosomal-dominant neurodegenerative disorder with an average age at onset of 40 years. It is a polyglutamine (polyQ) disorder that is caused by an increase in the number of CAG repeats in the huntingtin (HTT) gene. Genetic tests that accurately determine the number of CAG repeats are performed for confirmation of diagnosis, predictive testing of persons at genetic risk for inheriting HD, and prenatal testing. Read More

Arch Dis Child 2018 Aug 8;103(8):790-794. Epub 2018 Mar 8.

Pediatric Emergency Department, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

Introduction: Limited data exist on epidemiology, clinical presentation and management of acute hyperkinetic movement disorders (AHMD) in paediatric emergency departments (pED).

Methods: We retrospectively analysed a case series of 256 children (aged 2 months to 17 years) presenting with AHMD to the pEDs of six Italian tertiary care hospitals over a 2-year period (January 2012 to December 2013).

Results: The most common type of AHMD was tics (44. Read More

Neurol India 2018 Mar-Apr;66(Supplement):S59-S67

Department of Neurology, P D Hinduja National Hospital, Mumbai, Maharashtra, India.

Pediatric movement disorders are commonly encountered clinical entities in the pediatric outpatient department. These disorders are a heterogenous group of disorders and may represent an underlying genetic disorder, a metabolic disorder or a hypoxic-ischemic insult during the perinatal period. Hyperkinetic movement disorders are more common as compared to hypokinetic disorders. Read More

Eur J Med Genet 2018 Jul 22;61(7):393-398. Epub 2018 Feb 22.

Thyroid Molecular Laboratory, Institute for Medical and Molecular Genetics (INGEMM), IdiPAZ, La Paz University Hospital, Autonomous University of Madrid, Madrid, Spain; CIBERER, Biomedical Research Center in Rare Diseases Network, ISCIII, Madrid, Spain. Electronic address:

Genetic defects of NKX2-1 are classically associated with hypothyroidism, benign chorea and neonatal respiratory distress. The purpose of this study was to identify the genetic pathogenesis of the "NKX2-1 triad" in a 10 year-old female presenting additional features barely described in the disorder. In the neonatal period, she presented with generalized hypotonia and respiratory distress, with later episodes of frequent wheezing. Read More

Neuropediatrics 2018 Jun 22;49(3):209-212. Epub 2018 Feb 22.

Department of Pediatric Neurology, University of Turin, Children Hospital Regina Margherita, Turin, Italy.

Child bilateral striatal necrosis (BSN) is a rare and etiologically heterogeneous condition. An association with group A streptococcus (GAS) infection was previously reported in two cases of BSN in infancy and early childhood. We here report on a 7-year-old boy who developed chorea and dystonia 20 days after symptomatic recovery from Sydenham's chorea. Read More

Eur J Paediatr Neurol 2018 Mar 14;22(2):308-315. Epub 2017 Dec 14.

Department of Neurology - Movement Disorders, IRCCS Fondazione C. Besta, Milan, Italy. Electronic address:

Cerebral palsy (CP) is a heterogeneous group of syndromes that cause a non-progressive disorder of early onset, with abnormal control of movement and posture. Various aetiologies can cause the CP clinical spectrum, but all have a disruption of motor control in common. CP can be divided into four major types based on the motor disability: predominant spastic, dyskinetic, ataxic and mixed form. Read More