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Childhood chorea

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https://www.readbyqxmd.com/read/29289388/l-thyroxine-responsive-drop-attacks-in-childhood-benign-hereditary-chorea-a-case-report
#1
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...
December 27, 2017: Brain & Development
https://www.readbyqxmd.com/read/29185545/movement-disorders-and-chronic-psychosis-five-new-things
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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 while (1)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...
September 20, 2016: Journal of Child Neurology
https://www.readbyqxmd.com/read/27536460/more-than-ataxia-hyperkinetic-movement-disorders-in-childhood-autosomal-recessive-ataxia-syndromes
#10
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
#11
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
#12
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
#13
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
#14
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
https://www.readbyqxmd.com/read/26557176/childhood-onset-juvenile-huntington-s-disease-a-rare-case-report
#15
Kailash Chandra Patra, Mukund Sudhir Shirolkar
Huntington's disease (HD) is a rare dominantly inherited neurodegenerative disorder characterized clinically by a combination of abnormal involuntary (choreic) movements, neuropsychiatric manifestations, and dementia. It is caused by an unstable CAG repeat expansion in the gene IT15 which encodes a Huntingtin protein. We present a case of a 9 year old boy who had developmental regression starting from the age of 8 years of age along with resistant seizures and signs of cerebellar involvement with absence of chorea and is on anticonvulsants, baclofen, and tetrabenzine...
July 2015: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/26537056/adcy5-related-dyskinesia-broader-spectrum-and-genotype-phenotype-correlations
#16
Dong-Hui Chen, Aurélie Méneret, Jennifer R Friedman, Olena Korvatska, Alona Gad, Emily S Bonkowski, Holly A Stessman, Diane Doummar, Cyril Mignot, Mathieu Anheim, Saunder Bernes, Marie Y Davis, Nathalie Damon-Perrière, Bertrand Degos, David Grabli, Domitille Gras, Fuki M Hisama, Katherine M Mackenzie, Phillip D Swanson, Christine Tranchant, Marie Vidailhet, Steven Winesett, Oriane Trouillard, Laura M Amendola, Michael O Dorschner, Michael Weiss, Evan E Eichler, Ali Torkamani, Emmanuel Roze, Thomas D Bird, Wendy H Raskind
OBJECTIVE: To investigate the clinical spectrum and distinguishing features of adenylate cyclase 5 (ADCY5)-related dyskinesia and genotype-phenotype relationship. METHODS: We analyzed ADCY5 in patients with choreiform or dystonic movements by exome or targeted sequencing. Suspected mosaicism was confirmed by allele-specific amplification. We evaluated clinical features in our 50 new and previously reported cases. RESULTS: We identified 3 new families and 12 new sporadic cases with ADCY5 mutations...
December 8, 2015: Neurology
https://www.readbyqxmd.com/read/26374756/sydenham-s-chorea-not-gone-but-perhaps-forgotten
#17
Miranda Crealey, Nicholas M Allen, David Webb, Anthony Bouldin, Niamh Mc Sweeney, Deirdre Peake, Sandya Tirupathi, Karina Butler, Mary D King
Sydenham's chorea (SC) is characterised by chorea, emotional lability and hypotonia. In this study, we investigated the incidence and clinical presentation of childhood SC in Ireland (years 2006-2014). Nineteen cases were diagnosed. Five patients had rheumatic fever. An increasing trend with an incidence of 0.23/100 000 is reported. As most referral diagnoses included psychogenic illness, head injury and stroke, modern physicians may not be aware of this age old illness. A review of the manifestations and diagnosis of SC is presented...
December 2015: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/26203402/mutation-in-gm2a-leads-to-a-progressive-chorea-dementia-syndrome
#18
Mustafa A Salih, Mohammed Z Seidahmed, Heba Y El Khashab, Muddathir H A Hamad, Thomas M Bosley, Sabrina Burn, Angela Myers, Megan L Landsverk, Patricia L Crotwell, Kaya Bilguvar, Shrikant Mane, Michael C Kruer
BACKGROUND: The etiology of many cases of childhood-onset chorea remains undetermined, although advances in genomics are revealing both new disease-associated genes and variant phenotypes associated with known genes. METHODS: We report a Saudi family with a neurodegenerative course dominated by progressive chorea and dementia in whom we performed homozygosity mapping and whole exome sequencing. RESULTS: We identified a homozygous missense mutation in GM2A within a prominent block of homozygosity...
2015: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/26196025/benign-hereditary-chorea-an-update
#19
REVIEW
Kathryn J Peall, Manju A Kurian
Benign hereditary chorea (BHC) is a childhood-onset, hyperkinetic movement disorder normally with little progression of motor symptoms into adult life. The disorder is caused by mutations to the NKX2.1 (TITF1) gene and also forms part of the "brain-lung-thyroid syndrome", in which additional developmental abnormalities of lung and thyroid tissue are observed. In this review, we summarize the main clinical findings in "classical" BHC syndrome and discuss more recently reported atypical features, including non-choreiform movement phenotypes...
2015: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/26085604/adcy5-mutations-are-another-cause-of-benign-hereditary-chorea
#20
Niccolo E Mencacci, Roberto Erro, Sarah Wiethoff, Joshua Hersheson, Mina Ryten, Bettina Balint, Christos Ganos, Maria Stamelou, Niall Quinn, Henry Houlden, Nicholas W Wood, Kailash P Bhatia
OBJECTIVE: To determine the contribution of ADCY5 mutations in cases with genetically undefined benign hereditary chorea (BHC). METHODS: We studied 18 unrelated cases with BHC (7 familial, 11 sporadic) who were negative for NKX2-1 mutations. The diagnosis of BHC was based on the presence of a childhood-onset movement disorder, predominantly characterized by chorea and no other major neurologic features. ADCY5 analysis was performed by whole-exome sequencing or Sanger sequencing...
July 7, 2015: Neurology
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