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Ann Indian Acad Neurol 2020 May-Jun;23(3):332-337. Epub 2020 May 9.

Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran, Children's Hospital, New Delhi, India.

Movement disorders are one of the important neurological manifestations of inherited metabolic disorders. Important clues to the presence of an underlying inborn error of metabolism are early onset, presence of neuroregression or degeneration, parental consanguinity, sibling affection, paroxysmal events, waxing and waning course, skin or hair changes, absence of a perinatal insult or any structural cause, and presence of identifiable triggers. It is particularly important to recognize this class of movement disorders as several of them are eminently treatable and may often need disease-specific therapy besides symptomatic treatment. Read More

eNeurologicalSci 2020 Sep 6;20:100246. Epub 2020 Jun 6.

Radiology Department, Al- Azhar University, Egypt.

Sydenham chorea (SC) is the most common acquired cause of chorea in children. (SC) is the neurological manifestation of rheumatic fever. Rheumatic fever is still reported in Saudi Arabia, although less frequently. Read More

Turk J Pediatr 2020 ;62(3):411-423

Department of Critical Care, Faculty of Medicine, Cairo University, Cairo, Egypt.

Background And Objectives: To evaluate the efficacy of recently updated Jones criteria for diagnosis of rheumatic fever in high incidence populations like Egypt.

Methods: Clinical data of 891 Egyptian patients with rheumatic fever, aged 5-15 years in a highly specialized rheumatic fever clinic were reviewed retrospectively from March 2014 to March 2016. Discriminant analysis was used to detect the most effective predictors for diagnosis of rheumatic fever in our patients incorporating echocardiographic criteria. Read More

Cardiology 2020 Jun 11:1-7. Epub 2020 Jun 11.

Department of Cardiology, All India Institute of Medical Sciences, New Delhi, India.

Background: Acute rheumatic fever (ARF) and acute rheumatic carditis (ARC) continue to be a major public health problem in developing countries.

Objective: To study the characteristics of children with ARC being treated at a tertiary centre.

Methods And Results: We studied 126 children (mean age 10. Read More

Pediatr Int 2020 May 23. Epub 2020 May 23.

Division of Pediatric Neurology, Faculty of Medicine, Mersin University, Mersin, Turkey.

Background: To study the effect of levetiracetam in Sydenham chorea.

Methods: We retrospectively collected the data of 140 patients diagnosed with Sydenham chorea in the pediatric neurology and pediatric cardiology outpatient clinics of Van Training and Research Hospital between January 2010 and December 2018.

Results: There were 140 patients, 102 (70%) girls, with mean age of onset 11. Read More

Neuropediatrics 2020 May 11. Epub 2020 May 11.

Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics and Maternal, and Child Health, University of Genoa, Genoa, Italy.

pathogenic variants (OPA10 syndrome) have been described in patients with early-onset recessive optic neuropathy and recently associated with a broader clinical spectrum, from isolated optic neuropathy to severe encephalopathies with epilepsy. Here we present a case of a patient with a complex clinical picture characterized by bilateral optic nerve atrophy, horizontal nystagmus, myopia, mild intellectual disability, generalized chorea, isolated small subependymal heterotopia, and asynchronous self-resolving midbrain MRI (magnetic resonance imaging) lesions. By using massive gene sequencing, we identified in this patient the c. Read More

Sisli Etfal Hastan Tip Bul 2019 21;53(4):441-444. Epub 2019 Nov 21.

Department of Clinical Microbiology and Infectious Diseases, Necip Fazil State Hospital, Kahramanmaras, Turkey.

Paediatric autoimmune neuropsychiatric disorders associated with streptococci (PANDAS) are important neuropsychiatric disorders in childhood. Streptococcus pyogenes infection associated with tics, obsessive-compulsive disorders, and chorea co-occurrence is important. Swedo et al. Read More

Fortschr Neurol Psychiatr 2020 May 5. Epub 2020 May 5.

LWL Klinik für Psychiatrie, Ruhr-Universität Bochum.

Huntington's disease (HD) is an autosomal-dominant neurodegenerative disorder caused by a gene mutation in chromosome 4 that leads to an expansion of CAG - triplet repeats. It occurs mainly between the age of 30 and 50. Only less than 10 % of HD patients are younger than 20 years. Read More

Mov Disord 2020 May 5. Epub 2020 May 5.

Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, Georgia, USA.

Background: Hemizygous mutations in GRIA3 encoding the GluA3 subunit of the amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor are known to be associated with neurodevelopmental disorders, including intellectual disability, hypotonia, an autism spectrum disorder, sleep disturbances, and epilepsy in males.

Objective: To describe a new and consistent phenotype in 4 affected male patients associated with an undescribed deleterious variant in GRIA3.

Methods: We evaluated a large French family in which segregate a singular phenotype according to an apparent X-linked mode of inheritance. Read More

Cardiol Young 2020 May 4;30(5):717-721. Epub 2020 May 4.

Mersin University, Department of Pediatric Cardiology, Mersin, Turkey.

Objective: The aim of this study was to investigate the relationship between C-reactive protein and erythrocyte sedimentation rate and neutrophil-to-lymphocyte, platelet-to-lymphocyte, and monocyte-to-lymphocyte ratios in acute rheumatic fever in children.

Method: In this retrospective study, 182 patients with acute rheumatic fever and 173 controls were included. Complete blood count parameters, and neutrophil-to-lymphocyte, monocyte-to-lymphocyte, and platelet-to-lymphocyte ratios were recorded for all the patients underwent transthoracic echocardiography. Read More

CNS Spectr 2020 Apr;25(2):297

Teva Pharmaceuticals, Basel, Switzerland.

Background: Tourette syndrome (TS) is a neurodevelopmental disorder characterized by the hyperkinetic movements of motor and phonic tics manifested in young age. Currently approved treatments in the United States are antipsychotics: haloperidol, pimozide, and aripiprazole, which are associated with serious side effects, including tardive dyskinesia (TD). Deutetrabenazine, a vesicular monoamine transporter type 2 (VMAT2) inhibitor, was approved in 2017 by the US FDA for the treatment of chorea associated with Huntington's disease and TD. Read More

Clin Psychopharmacol Neurosci 2020 May;18(2):327-330

Department of Child and Adolescent Psychiatry, Medical Faculty, University of Health Sciences, Istanbul, Turkey.

Choreiform movements have been reported with stimulant medications, especially in adults. There is only limited evidence on the management of such reactions in children with attention deficit hyperactivity disorder. Hereby, we present the exacerbation of chorea with long-acting methylphenidate use in a 6-year-old child with acute rheumatic fever which resolved with switching to atomoxetine. Read More

Curr Rheumatol Rep 2020 Mar 3;22(3). Epub 2020 Mar 3.

Department of Allergology, Rheumatology and Clinical Immunology, Children's Hospital, University Medical Center, Faculty of Medicine, University of Ljubljana, Bohoriceva 20, 1525, Ljubljana, Slovenia.

Purpose Of Review: The purpose of this report is to review recent research findings on APS in children and neonates.

Recent Findings: European evidence-based recommendations for diagnosis and treatment of pediatric APS has recently been published by the SHARE Initiative. Recent studies have shown a high prevalence of non-thrombotic manifestations in children with aPL, domains 4/5 specificity of 'innocent' anti-β2GPI antibodies in infants, and a higher risk for developmental delays and learning disabilities, hence, the need for neurodevelopmental monitoring in children born to mothers with APS. Read More

Pediatric Health Med Ther 2020 18;11:55-58. Epub 2020 Feb 18.

Ayder Hospital, Mekelle University, Tigray, Ethiopia.

Background: Rheumatic fever continues to be a major public health problem in the developing world, being responsible for many morbidities and mortalities. Were it not for its serious effects on the cardiovascular system, and to some extent on the central nervous system, the disease might not have significant consequences. The central nervous system involvement is explained with Sydenham chorea in which case the patient manifests with purposeless and choreiform movements aggravated by stress. Read More

Nat Genet 2020 02 14;52(2):146-159. Epub 2020 Feb 14.

Program of Genetics & Genome Biology, The Hospital for Sick Children, The Peter Gilgan Centre for Research and Learning, Toronto, Ontario, Canada.

In many repeat diseases, such as Huntington's disease (HD), ongoing repeat expansions in affected tissues contribute to disease onset, progression and severity. Inducing contractions of expanded repeats by exogenous agents is not yet possible. Traditional approaches would target proteins driving repeat mutations. Read More

Eur J Pediatr 2020 Jun 21;179(6):993-997. Epub 2020 Jan 21.

University of Trieste, Piazzale Europa 2, 34100, Trieste, Italy.

The objective of the study is to evaluate the efficacy of corticosteroids in Sydenham chorea. This is a retrospective observational study. Clinical information of children with Sydenham chorea were collected. Read More

Turk Pediatri Ars 2019 25;54(4):220-224. Epub 2019 Dec 25.

Division of Pediatric Cardiology, Department of Pediatrics, Atatürk University Faculty of Medicine, Training and Research Hospital, Erzurum, Turkey.

Aim: To evaluate the clinical features of children diagnosed as having acute rheumatic fever between June 2015 and November 2018, and the changes observed in patient groups in comparison with data obtained in previous years. The diagnosis of acute rheumatic fever was made using the updated Jones criteria.

Material And Methods: The medical records of pediatric patients who were diagnosed as having acute rheumatic fever between June 2015 and November 2018 using the updated criteria, were examined retrospectively. Read More

Epilepsia 2019 12;60 Suppl 3:S59-S67

Paediatric Neurosciences Research Group, Royal Hospital for Children & School of Medicine, University of Glasgow, Glasgow, UK.

Pathogenic variants in the SCN2A gene are associated with a variety of neurodevelopmental phenotypes, defined in recent years through multicenter collaboration. Phenotypes include benign (self-limited) neonatal and infantile epilepsy and more severe developmental and epileptic encephalopathies also presenting in early infancy. There is increasing evidence that an important phenotype linked to the gene is autism and intellectual disability without epilepsy or with rare seizures in later childhood. Read More

Front Genet 2019 29;10:1026. Epub 2019 Oct 29.

Movement Disorders Clinic, Department of Neurosciences, Bambino Gesù Children's Hospital, Rome, Italy.

In recent years, genetic techniques of diagnosis have shown rapid development, resulting in a modified clinical approach to many diseases, including neurological disorders. Movement disorders, in particular those arising in childhood, pose a diagnostic challenge. First, from a purely phenomenological point of view, the correct clinical classification of signs and symptoms may be difficult and require expert evaluation. Read More

Horm Res Paediatr 2019 8;92(5):340-344. Epub 2019 Nov 8.

Department of Paediatric Endocrinology, Bristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, Bristol, United Kingdom.

Introduction: Heterozygous mutations or haploinsufficiency of NKX2-1 are associated with the brain-lung-thyroid syndrome incorporating primary hypothyroidism, respiratory distress, and neurological disturbances.

Case Presentation: We report a patient presenting in the neonatal period with multiple pituitary hormone deficiency including central hypothyroidism and hypoadrenalism, growth hormone deficiency, undetectable gonadotrophins, and a small anterior pituitary on MRI. CGH microarray revealed haploinsufficiency for NKX2. Read More

Paediatr Int Child Health 2020 05 25;40(2):111-116. Epub 2019 Oct 25.

Department of Pediatric Allergy and Immunology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.

: Acute rheumatic fever (ARF) continues to be a public health problem in low- and middle-income countries. Because there is no specific laboratory test for the exact diagnosis of ARF, the diagnosis is made by the modified Jones criteria. Periostin is an extracellular matrix protein which has been shown to be expressed during remodelling, mechanical stress and tissue repair. Read More

Cureus 2019 Aug 21;11(8):e5447. Epub 2019 Aug 21.

Pediatrics, United Medical and Dental College/Creek General Hospital, Karachi, PAK.

Rheumatic chorea (RC) is a movement disorder seen in young children and adolescents with a recent history of incompletely treated group A beta-hemolytic streptococcal (GABHS) pharyngitis. Although, it rarely presents as the first manifestation of the disease, physicians should be aware of the disease, so that early diagnosis and prompt treatment may lead to elimination of the pathogen and prevent further disease progression. We present a case of a 13-year-old female child who presented with only RC as the first clinical sign. Read More

Front Pediatr 2019 1;7:395. Epub 2019 Oct 1.

Child Neurology Division, Department of Paediatrics, "Sapienza" University of Rome, Rome, Italy.

Cardiac involvement in PANS has not been clarified relying on the scientific literature available until today. It is known that streptococcal infections play a role in the etiology of a great number of diseases including Sydenham chorea and rheumatic fever, among others. Based on the suspected pathogenesis of PANDAS (Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal infections) reported in the medical literature, we decided to investigate the cardiologic involvement in children with a recent PANS/PANDAS diagnosis. Read More

EBioMedicine 2019 Oct 10;48:568-580. Epub 2019 Oct 10.

Institute of Molecular, Cell and Systems Biology, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow G12 8QQ, UK. Electronic address:

Background: Huntington disease (HD) is caused by an unstable CAG/CAA repeat expansion encoding a toxic polyglutamine tract. Here, we tested the hypotheses that HD outcomes are impacted by somatic expansion of, and polymorphisms within, the HTT CAG/CAA glutamine-encoding repeat, and DNA repair genes.

Methods: The sequence of the glutamine-encoding repeat and the proportion of somatic CAG expansions in blood DNA from participants inheriting 40 to 50 CAG repeats within the TRACK-HD and Enroll-HD cohorts were determined using high-throughput ultra-deep-sequencing. Read More

Pediatr Neurol 2020 01 7;102:10-19. Epub 2019 Sep 7.

Department of Neurology, University of Rochester Medical Center, Rochester, New York; Department of Neuroscience, University of Rochester Medical Center, Rochester, New York; Department of Pediatrics, University of Rochester Medical Center, Rochester, New York. Electronic address:

Chorea is a movement disorder characterized by ongoing random-appearing sequences of discrete involuntary movements or movement fragments. Chorea results from dysfunction of the complex neuronal networks that interconnect the basal ganglia, thalamus, and related frontal lobe cortical areas. The complexity of basal ganglia circuitry and vulnerability of those circuits to injury explains why chorea results from a wide variety of conditions. Read More

J Pediatr 2019 12 3;215:187-191. Epub 2019 Oct 3.

Department of Pediatrics, University of Bologna, S. Orsola-Malpighi Hospital, Bologna, Italy.

Objective: To describe clinical presentation, electrocardiographic, and echocardiographic characteristics of carditis at the time of diagnosis of acute rheumatic fever (ARF) over a 13-year period.

Study Design: A single-center retrospective chart analysis was conducted involving all consecutive patients diagnosed with ARF between 2003 and 2015. Patient age, sex, clinical characteristics, recent medical history for group A streptococcal pharyngotonsillitis and antibiotic treatment, and laboratory, echocardiographic, and electrocardiographic findings were recorded. Read More

Am J Emerg Med 2019 11 24;37(11):2118.e5-2118.e7. Epub 2019 Aug 24.

Department of Medicine, Division of Emergency Medicine, McMaster University, Hamilton, ON, Canada; Department of Pediatrics, McMaster University, Hamilton, ON, Canada.

Isolated motor disturbances in the paediatric population are uncommon presentations to the emergency department. Choreiform movements have a broad differential diagnosis and may present insidiously with progressive worsening of asymmetric clumsiness, hypotonia and dysarthria. The incidence of Sydenham's chorea (SC) caused by acute rheumatic fever (ARF) is very rare in developed countries. Read More

Mol Genet Genomic Med 2019 10 22;7(10):e00881. Epub 2019 Aug 22.

Service de neurogénétique et médecine prédictive, GH Nord-Hôpital de la Croix Rousse, Hospices civils de Lyon, Lyon, France.

Background: Huntington disease (HD) is a devastating neurodegenerative autosomal dominant genetic condition. Predictive testing (PT) is available through a defined protocol for at-risk individuals. We analyzed the over-24-years evolution of practices regarding PT for HD in a single center. Read More

Neurology 2019 Sep 1;93(10):e1021-e1030. Epub 2019 Aug 1.

From the Department of Psychiatry (E.v.d.P., T.R.K.), University of Iowa Hospitals & Clinics; and the Departments of Psychiatry (D.R.L., A.T., E.A.E., P.C.N.), Biostatistics (D.R.L., A.T.), and Radiology (V.A.M.) and Stead Family Department of Pediatrics (A.L.C.), University of Iowa, Iowa City.

Objective: The huntingtin gene is critical for the formation and differentiation of the CNS, which raises questions about the neurodevelopmental effect of CAG expansion mutations within this gene () that cause Huntington disease (HD). We sought to test the hypothesis that child and adolescent carriers of exhibit different brain growth compared to peers without the mutation by conducting structural MRI in youth who are at risk for HD. We also explored whether the length of CAG expansion affects brain development. Read More

Continuum (Minneap Minn) 2019 Aug;25(4):1099-1120

Purpose Of Review: This article provides an overview of the clinical features and disorders associated with movement disorders in childhood. This article discusses movement disorder phenomena and their clinical presentation in infants and children and presents a diagnostic approach to suspected genetic disorders with a focus on treatable conditions.

Recent Findings: Technologic advances in molecular genetic testing over the past decade continue to lead to the discovery of new diseases. Read More

Continuum (Minneap Minn) 2019 Aug;25(4):1001-1035

Purpose Of Review: This article provides an overview of the approach to chorea in clinical practice, beginning with a discussion of the phenomenologic features of chorea and how to differentiate it from other movement disorders. The diagnostic approach, clinical features of important acquired and genetic choreas, and therapeutic principles are also discussed. Practical clinical points and caveats are included. Read More

Biofactors 2019 Sep 13;45(5):725-739. Epub 2019 Jul 13.

Biotechnology Research Center, Pharmaceutical Technology Institute, Mashhad University of Medical Sciences, Mashhad, Iran.

Lipoproteins are the complexes of different lipids and proteins, which are devoted to the transport and clearance of lipids or lipid-related molecules in the circulation. Lipoproteins have been found to play a crucial role in brain function and may influence myelination process. Among lipoproteins, high-density lipoproteins (HDLs) and their major protein component, apoA-I, are directly involved in cholesterol efflux in the brain. Read More

Eur J Neurol 2019 09 21;26(9):1226-1234. Epub 2019 Jun 21.

Neurology Clinic, Department 'G.F. Ingrassia', Section of Neurosciences, University of Catania, Catania, Italy.

Background And Purpose: Congenital disorders of glycosylation (CDG) represent an increasing number of rare inherited metabolic diseases associated with abnormal glycan metabolism and disease onset in infancy or early childhood. Most CDG are multisystemic diseases mainly affecting the central nervous system. The aim of the current study was to investigate hyperkinetic movement disorders in patients affected by CDG and to characterize phenomenology based on CDG subtypes. Read More

Am J Hum Genet 2019 06 16;104(6):1116-1126. Epub 2019 May 16.

Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics, University of British Columbia, Vancouver, BC V5Z 4H4, Canada. Electronic address:

Huntington disease (HD) is caused by a CAG repeat expansion in the huntingtin (HTT) gene. Although the length of this repeat is inversely correlated with age of onset (AOO), it does not fully explain the variability in AOO. We assessed the sequence downstream of the CAG repeat in HTT [reference: (CAG)n-CAA-CAG], since variants within this region have been previously described, but no study of AOO has been performed. Read More

Brain Dev 2019 08 30;41(7):643. Epub 2019 Apr 30.

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

J Huntingtons Dis 2019 ;8(2):171-179

MRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff, UK.

Background: Juvenile-onset Huntington's disease (JHD) is defined by onset at the age of 20 or younger and represents approximately 5% of all HD cases. Patients with JHD present with a broad range of symptoms and signs that only overlap partially with adult-onset HD. A greater awareness and understanding of the presentation of JHD would improve the diagnosis and treatment of this condition. Read More

Isr Med Assoc J 2019 Apr;21(4):286-287

Department of Child Neurology, Schneider Children's Medical Center of Israel, Petah Tikva, Israel.

Pediatr Transplant 2019 06 23;23(4):e13402. Epub 2019 Apr 23.

Stanford Center for Biomedical Ethics, Stanford University School of Medicine, Stanford University, Stanford, California.

There is a limited supply of organs for all those who need them for survival. Thus, careful decisions must be made about who is listed for transplant. Studies show that manifesting genetic disease can impact listing eligibility. Read More

J Emerg Med 2019 Jun 16;56(6):e119-e121. 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

Parkinsonism Relat Disord 2019 07 28;64:145-149. Epub 2019 Feb 28.

Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia; Department of Biomedical Research, King Fahad Specialist Hospital, Dammam, Saudi Arabia.

Introduction: ADCY5-related hyperkinesia encompasses a heterogeneous group of phenotypes, including paroxysmal chorea, myoclonus, and dystonia. The disease is attributed to mutations of ADCY5, which encodes an adenylate cyclase enzyme. The disease can occur in a sporadic or familial pattern. Read More

Neurology 2019 04 10;92(17):779-780. Epub 2019 Apr 10.

From the Department of Pediatrics, Division of Pediatric Neurology (J.L.W.), Department of Neurology and Neurotherapeutics (J.L.W.), University of Texas Southwestern; Department of Neurology (L.S.D.) and Department of Pediatrics, Division of Pediatric Neurology (L.S.D.), University of Alabama at Birmingham.

Neurology 2019 04 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 Palliat Care 2019 Jul 5;34(3):205-207. Epub 2019 Apr 5.

2 Hand in Hand/Pediatric Palliative Care Division, Department of Pediatrics, Children's Hospital and Medical Center, Omaha, NE, USA.

Objectives: To consider the impact of juvenile Huntington disease (JHD) from a biomedical, symptom burden, and total pain palliative care perspective.

Methods: This case report was informed by a narrative review of the literature with inclusion of expert opinion from pediatric palliative care, an adult and pediatric neurologist, and a child psychiatrist. Audio-recorded qualitative interview and coauthorship with the pediatric patient's primary caregiver (his mother). 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

Pediatr Radiol 2019 06 30;49(7):869-875. Epub 2019 Mar 30.

Department of Radiology, Children's Hospital Colorado, 13123 E. 16th Ave., Box 125, Aurora, CO, 80045, USA.

Background: The expression of the NKX2-1 gene and its encoded protein, thyroid transcription factor 1 (TTF-1), plays a role in pulmonary surfactant homeostasis and lung development. NKX2-1 mutations have been associated with neonatal respiratory distress, hypotonia, choreoathetosis and congenital hypothyroidism. These clinical findings have been coined brain-lung-thyroid syndrome, although not all three organs are always involved. Read More

Brain 2019 05;142(5):1195-1202

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

J Neurol 2019 Jun 20;266(6):1439-1448. Epub 2019 Mar 20.

Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

Glucose transporter type 1 deficiency syndrome (Glut1 DS) is a rare neurological disorder caused by impaired glucose delivery to the brain. The clinical spectrum of Glut1 DS mainly includes epilepsy, paroxysmal dyskinesia (PD), developmental delay and microcephaly. Glut1 DS diagnosis is based on the identification of hypoglycorrhachia and pathogenic mutations of the SLC2A1 gene. Read More

Eur J Hum Genet 2019 08 19;27(8):1215-1224. Epub 2019 Mar 19.

Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.

Huntington's disease (HD) is a severe neurodegenerative condition that impacts the whole family. Prenatal diagnosis by direct or exclusion testing is available for couples at risk of transmitting HD to their children. An ethical problem can arise after prenatal diagnosis for HD if a known 'high risk' pregnancy is continued to term: international guidelines emphasise that this situation should be avoided where possible, as it removes the resulting child's future right to make an informed, autonomous decision about predictive testing. Read More