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Childhood chorea

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https://www.readbyqxmd.com/read/29735116/inherited-and-acquired-choreas
#1
Claudio M de Gusmao, Jeff L Waugh
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. Recognizing the correct etiology for childhood chorea is critical, as numerous disorders in this category are potentially curable, or are remediable, with early treatment...
April 2018: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/29687155/takayasu-arteritis-in-childhood-misdiagnoses-at-disease-onset-and-associated-diseases
#2
Gleice Clemente, Clovis A Silva, Silvana B Sacchetti, Virginia P L Ferriani, Sheila K Oliveira, Flavio Sztajnbok, Blanca E R G Bica, André Cavalcanti, Teresa Robazzi, Marcia Bandeira, Maria Teresa Terreri
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. The misdiagnoses, the associated diseases and the atypical manifestations were evaluated. 19 (26.8%) patients had misdiagnoses...
April 23, 2018: Rheumatology International
https://www.readbyqxmd.com/read/29625811/further-characterization-of-capos-caos-syndrome-with-the-glu818lys-mutation-in-the-atp1a3-gene-a-case-report
#3
Takuya Hayashida, Yoshiaki Saito, Atsushi Ishii, Shinichi Hirose, Rika Hiraiwa, Yoshihiro Maegaki, Kousaku Ohno
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...
April 3, 2018: Brain & Development
https://www.readbyqxmd.com/read/29518281/recessive-mutations-in-vps13d-cause-childhood-onset-movement-disorders
#4
Julie Gauthier, Inge A Meijer, Davor Lessel, Niccolò E Mencacci, Dimitri Krainc, Maja Hempel, Konstantinos Tsiakas, Holger Prokisch, Elsa Rossignol, Margaret H Helm, Lance H Rodan, Jason Karamchandani, Miryam Carecchio, Steven J Lubbe, Aida Telegrafi, Lindsay B Henderson, Kerry Lorenzo, Stephanie E Wallace, Ian A Glass, Fadi F Hamdan, Jacques L Michaud, Guy A Rouleau, Philippe M Campeau
VPS13 protein family members VPS13A through VPS13C have been associated with various recessive movement disorders. We describe the first disease association of rare recessive VPS13D variants including frameshift, missense, and partial duplication mutations with a novel complex, hyperkinetic neurological disorder. The clinical features include developmental delay, a childhood onset movement disorder (chorea, dystonia, or tremor), and progressive spastic ataxia or paraparesis. Characteristic brain magnetic resonance imaging shows basal ganglia or diffuse white matter T2 hyperintensities as seen in Leigh syndrome and choreoacanthocytosis...
March 8, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29471551/bilateral-striatal-necrosis-after-sydenham-s-chorea-in-a-7-year-old-boy-a-2-year-follow-up
#5
C Canavese, C Davico, M Casabianca, C Olivieri, S Mancini, G Migliore, A Versace, A Tocchet, B Vitiello
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. Repeated brain magnetic resonance imaging scans, obtained before, soon after the onset of the post-Sydenham symptoms, and 1 year later were consistent with an evolution from bilateral striatal microbleeding to necrosis, and consequently reduced basal ganglia volume and enlargement of the frontal horns...
June 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29376097/xeroderma-pigmentosum-is-a-definite-cause-of-huntington-s-disease-like-syndrome
#6
Hector Garcia-Moreno, Hiva Fassihi, Robert P E Sarkany, Julie Phukan, Thomas Warner, Alan R Lehmann, Paola Giunti
Xeroderma pigmentosum is characterized by cutaneous, ophthalmological, and neurological features. Although it is typical of childhood, late presentations can mimic different neurodegenerative conditions. We report two families presenting as Huntington's disease-like syndromes. The first case (group G) presented with neuropsychiatric features, cognitive decline and chorea. Typical lentigines were only noticed after the neurological disease started. The second case (group B) presented adult-onset chorea and neuropsychiatric symptoms after an aggressive ocular melanoma...
January 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29289388/l-thyroxine-responsive-drop-attacks-in-childhood-benign-hereditary-chorea-a-case-report
#7
Tadashi Shiohama, Hirofumi Ohashi, Kenji Shimizu, Katsunori Fujii, Daiju Oba, Tomozumi Takatani, Mitsuhiro Kato, Naoki Shimojo
Benign hereditary chorea (BHC) is a rare autosomal dominant disease that is characterized by non-progressive chorea with early-childhood-onset, congenital hypothyroidism, and neonatal respiratory distress. Although tetrabenazine and levodopa are partly effective for chorea and drop attacks in some patients, there is no standard treatment option. We herein describe a childhood case of BHC that presented with l-thyroxine-responsive drop attacks. A genetic analysis revealed an interstitial deletion that included two enhancer regions of NKX2-1, providing genetic confirmation of BHC...
April 2018: Brain & Development
https://www.readbyqxmd.com/read/29185545/movement-disorders-and-chronic-psychosis-five-new-things
#8
Davide Martino, Francesca Morgante
Purpose of review: To discuss selected peer-reviewed research articles published between 2014 and 2016 and highlight 5 clinically relevant messages related to hyperkinetic and hypokinetic movement disorders in patients with chronic psychosis. Recent findings: A recent population-based study complemented data from clinical trials in showing increased risk of developing extrapyramidal symptoms with antipsychotic use. A community service-based longitudinal study showed that dopamine transporter imaging could help identify subgroups of patients with parkinsonism associated with antipsychotics with a progressive course, potentially manageable with l-dopa...
April 2017: Neurology. Clinical Practice
https://www.readbyqxmd.com/read/29130591/familial-choreoathetosis-due-to-novel-heterozygous-mutation-in-pde10a
#9
Dhanya L Narayanan, Dipti Deshpande, Aneek Das Bhowmik, Dandu R Varma, Ashwin Dalal
PDE10A encodes a dual cAMP-cGMP phosphodiesterase that is enriched in the medium spiny neurons of the corpus striatum in the brain and plays an important role in basal ganglia circuitry. Three unrelated patients with childhood onset chorea and striatal abnormalities on MRI brain with heterozygous de novo variants in PDE10A have been described previously. Two families with eight affected individuals with biallelic mutations in PDE10A have also been described previously. We report a family with multiple affected individuals with childhood onset chorea, striatal abnormalities, and a novel heterozygous mutation, c...
November 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29119300/longitudinal-outcomes-of-children-with-pediatric-autoimmune-neuropsychiatric-disorder-associated-with-streptococcal-infections-pandas
#10
Jill Leon, Rebecca Hommer, Paul Grant, Cristan Farmer, Precilla D'Souza, Riley Kessler, Kyle Williams, James F Leckman, Susan Swedo
Little is known about the natural history of children with pediatric autoimmune neuropsychiatric disorder associated with streptococcal infections (PANDAS). This study prospectively followed 33 children with PANDAS for up to 4.8 years (mean 3.3 ± 0.7 years) after enrollment in a 24-week randomized, double-blind, placebo-controlled trial of intravenous immunoglobulin (IVIG) (N = 35). Fourteen of eighteen children randomized to placebo received open label IVIG 6 weeks after the blinded infusion, so follow-up results reported below largely reflect outcomes in a population of children who received at least one dose of IVIG...
November 8, 2017: European Child & Adolescent Psychiatry
https://www.readbyqxmd.com/read/29103424/autoantibody-associated-movement-disorders-in-children-proven-and-proposed
#11
Harvey S Singer
Movement disorders secondary to autoantibodies in children represent a rapidly expanding group of conditions. Once considered to be limited to poststreptococcal Sydenham's chorea or rare cases of childhood systemic lupus erythematosus, a variety of antibody-related movement abnormalities are now seen as part of noninfectious autoimmune encephalitis or within an expanding list of postinfectious disorders. In this article, several proposed autoantibody-mediated movement disorders in children are reviewed. In each one, there is a hypothesized antibody biomarker that is believed to be pathogenic and cause the clinical symptoms...
August 2017: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28961886/the-neuropsychology-of-huntington-s-disease
#12
Julie S Snowden
Huntington's disease is an inherited, degenerative brain disease, characterized by involuntary movements, cognitive disorder and neuropsychiatric change. Men and women are affected equally. Symptoms emerge at around 40 years, although there is wide variation. A rare juvenile form has onset in childhood or adolescence. The evolution of disease is insidious and structural and functional brain changes may be present more than a decade before symptoms and signs become manifest. The earliest site of pathology is the striatum and neuroimaging measures of striatal change correlate with neurological and cognitive markers of disease...
November 1, 2017: Archives of Clinical Neuropsychology: the Official Journal of the National Academy of Neuropsychologists
https://www.readbyqxmd.com/read/28511835/adcy5-related-movement-disorders-frequency-disease-course-and-phenotypic-variability-in-a-cohort-of-paediatric-patients
#13
Miryam Carecchio, Niccolò E Mencacci, Alessandro Iodice, Roser Pons, Celeste Panteghini, Giovanna Zorzi, Federica Zibordi, Anastasios Bonakis, Argyris Dinopoulos, Joseph Jankovic, Leonidas Stefanis, Kailash P Bhatia, Valentina Monti, Lea R'Bibo, Liana Veneziano, Barbara Garavaglia, Carlo Fusco, Nicholas Wood, Maria Stamelou, Nardo Nardocci
INTRODUCTION: ADCY5 mutations have been recently identified as an important cause of early-onset hyperkinetic movement disorders. The phenotypic spectrum associated with mutations in this gene is expanding. However, the ADCY5 mutational frequency in cohorts of paediatric patients with hyperkinetic movement disorders has not been evaluated. METHODS: We performed a screening of the entire ADCY5 coding sequence in 44 unrelated subjects with genetically undiagnosed childhood-onset hyperkinetic movement disorders, featuring chorea alone or in combination with myoclonus and dystonia...
August 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28063110/toward-the-next-step-in-g-protein-coupled-receptor-research-a-knowledge-driven-analysis-for-the-next-potential-targets-in-drug-discovery
#14
Koji Nagata, Yukie Katayama, Tomomi Sato, Yeondae Kwon, Takeshi Kawabata
More than 800 G protein-coupled receptor (GPCR) genes have been discovered in the human genome. Towards the next step in GPCR research, we performed a knowledge-driven analysis of orphan class-A GPCRs that may serve as novel targets in drug discovery. We examined the relationship between 61 orphan class-A GPCR genes and diseases using the Online Mendelian Inheritance in Man (OMIM) database and the DDSS tool. The OMIM database contains data on disease-related variants of the genes. Particularly, the variants of GPR101, GPR161, and GPR88 are related to the genetic diseases: growth hormone-secreting pituitary adenoma 2, pituitary stalk interruption syndrome (not confirmed), and childhood-onset chorea with psychomotor retardation, respectively...
December 2016: Journal of Structural and Functional Genomics
https://www.readbyqxmd.com/read/27651038/a-novel-sucla2-mutation-presenting-as-a-complex-childhood-movement-disorder
#15
Caterina Garone, Juliana Gurgel-Giannetti, Simone Sanna-Cherchi, Sindu Krishna, Ali Naini, Catarina M Quinzii, Michio Hirano
SUCLA2 defects have been associated with mitochondrial DNA (mtDNA) depletion and the triad of hypotonia, dystonia/Leigh-like syndrome, and deafness. A 9-year-old Brazilian boy of consanguineous parents presented with psychomotor delay, deafness, myopathy, ataxia, and chorea. Despite the prominent movement disorder, brain magnetic resonance imaging (MRI) was normal while1 H-magnetic resonance spectroscopy (MRS) showed lactate peaks in the cerebral cortex and lateral ventricles. Decreased biochemical activities of mitochondrial respiratory chain enzymes containing mtDNA-encoded subunits and mtDNA depletion were observed in muscle and fibroblasts...
February 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/27536460/more-than-ataxia-hyperkinetic-movement-disorders-in-childhood-autosomal-recessive-ataxia-syndromes
#16
REVIEW
Toni S Pearson
BACKGROUND: The autosomal recessive ataxias are a heterogeneous group of disorders that are characterized by complex neurological features in addition to progressive ataxia. Hyperkinetic movement disorders occur in a significant proportion of patients, and may sometimes be the presenting motor symptom. Presentations with involuntary movements rather than ataxia are diagnostically challenging, and are likely under-recognized. METHODS: A PubMed literature search was performed in October 2015 utilizing pairwise combinations of disease-related terms (autosomal recessive ataxia, ataxia-telangiectasia, ataxia with oculomotor apraxia type 1 (AOA1), ataxia with oculomotor apraxia type 2 (AOA2), Friedreich ataxia, ataxia with vitamin E deficiency), and symptom-related terms (movement disorder, dystonia, chorea, choreoathetosis, myoclonus)...
2016: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/27370066/-evaluation-of-a-neuropsychiatric-disorder-from-pandas-to-pans-and-cans
#17
Muharrem Burak Baytunca, Tuğba Donuk, Serpil Erermiş
PANDAS (Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal infections) syndrome is a disorder seen before adolescence that possesses an abrupt onset of obsessive-compulsive disorder symptoms and/or tics. Swedo and colleagues defined this disorder in 1998 as a syndrome related to Group A streptoccoccus (GAS) infection with neurological issues, such as motor hyperactivation and choreiform movements. The progress of the disorder may be described as wax-and-waning, apart from abrupt onset, and this relapse and remission course is associated with exacerbating infections, according to the creators of PANDAS syndrome...
2016: Türk Psikiyatri Dergisi, Turkish Journal of Psychiatry
https://www.readbyqxmd.com/read/27257945/recent-advances-in-genetics-of-chorea
#18
REVIEW
Niccolò E Mencacci, Miryam Carecchio
PURPOSE OF REVIEW: Chorea presenting in childhood and adulthood encompasses several neurological disorders, both degenerative and nonprogressive, often with a genetic basis. In this review, we discuss how modern genomic technologies are expanding our knowledge of monogenic choreic syndromes and advancing our insight into the molecular mechanisms responsible for chorea. RECENT FINDINGS: A genome-wide association study in Huntington's disease identified genetic disease modifiers involved in controlling DNA repair mechanisms and stability of the HTT trinucleotide repeat expansion...
August 2016: Current Opinion in Neurology
https://www.readbyqxmd.com/read/27180377/sydenham-s-chorea-as-presentation-of-rheumatic-heart-disease
#19
A Joshi, R P B Shrestha, P S Shrestha, S Dangol, N C Shrestha, P Poudyal, A Shrestha
Sydenham's chorea is the most common type of acquired chorea in childhood which is a major neurological manifestation of rheumatic fever. We describe a 13 years old girl who presented with weakness and purposeless involuntary movements of upper and lower limbs. The symptoms slightly affected the child's daily activities and had an unstable gait on walking which was aggravated during stress. Grade II ejection systolic murmur was noticed on cardiovascular examination. Echocardiography evaluation showed thickened aortic and mitral valve leaflets with mild to moderate degree of mitral regurgitation...
July 2015: Kathmandu University Medical Journal (KUMJ)
https://www.readbyqxmd.com/read/27058447/de-novo-mutations-in-pde10a-cause-childhood-onset-chorea-with-bilateral-striatal-lesions
#20
Niccolò E Mencacci, Erik-Jan Kamsteeg, Kosuke Nakashima, Lea R'Bibo, David S Lynch, Bettina Balint, Michèl A A P Willemsen, Matthew E Adams, Sarah Wiethoff, Kazunori Suzuki, Ceri H Davies, Joanne Ng, Esther Meyer, Liana Veneziano, Paola Giunti, Deborah Hughes, F Lucy Raymond, Miryam Carecchio, Giovanna Zorzi, Nardo Nardocci, Chiara Barzaghi, Barbara Garavaglia, Vincenzo Salpietro, John Hardy, Alan M Pittman, Henry Houlden, Manju A Kurian, Haruhide Kimura, Lisenka E L M Vissers, Nicholas W Wood, Kailash P Bhatia
Chorea is a hyperkinetic movement disorder resulting from dysfunction of striatal medium spiny neurons (MSNs), which form the main output projections from the basal ganglia. Here, we used whole-exome sequencing to unravel the underlying genetic cause in three unrelated individuals with a very similar and unique clinical presentation of childhood-onset chorea and characteristic brain MRI showing symmetrical bilateral striatal lesions. All individuals were identified to carry a de novo heterozygous mutation in PDE10A (c...
April 7, 2016: American Journal of Human Genetics
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