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Childhood chorea

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...
May 10, 2017: Parkinsonism & related Disorders
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
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
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
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
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
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)
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
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
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
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
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
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
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
B Balint, K P Bhatia
Recent consensus on the definition, phenomenology and classification of dystonia centres around phenomenology and guides our diagnostic approach for the heterogeneous group of dystonias. Current terminology classifies conditions where dystonia is the sole motor feature (apart from tremor) as 'isolated dystonia', while 'combined dystonia' refers to dystonias with other accompanying movement disorders. This review highlights recent advances in the genetics of some isolated and combined dystonic syndromes. Some genes, such as ANO3, GNAL and CIZ1, have been discovered for isolated dystonia, but they are probably not a common cause of classic cervical dystonia...
April 2015: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
Andreas Hermann, Ruth H Walker
Chorea is a common movement disorder which can be caused by a large variety of diseases including neurodegenerative diseases, metabolic diseases, and autoimmune diseases, or can be secondary to structural changes. The basal ganglia seem to be mainly involved in the pathophysiology indicating the vulnerability of this region. The diagnosis can be challenging, especially if chorea occurs during the treatment of neuropsychiatric conditions, and in these cases, it is difficult to distinguish between medication side effects (i...
2015: Current Neurology and Neuroscience Reports
Matthew T Sweney, Tara M Newcomb, Kathryn J Swoboda
BACKGROUND: ATP1A3 mutations have now been recognized in infants and children presenting with a diverse group of neurological phenotypes, including Rapid-onset Dystonia-Parkinsonism (RDP), Alternating Hemiplegia of Childhood (AHC), and most recently, Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy, and Sensorineural hearing loss (CAPOS) syndrome. METHODS: Existing literature on ATP1A3-related disorders in the pediatric population were reviewed, with attention to clinical features and associated genotypes among those with RDP, AHC, or CAPOS syndrome phenotypes...
January 2015: Pediatric Neurology
Anna Rosati, Beatrice Berti, Federico Melani, Elena Cellini, Elena Procopio, Renzo Guerrini
Drop attacks are sudden, spontaneous falls without loss of consciousness, followed by rapid recovery. Causes in children include severe epilepsies, movement disorders, cataplexy, and psychiatric disorders. We describe two children (a 3-year-old female and a 12-year-old male) with mild neuromotor delay and sudden falls appearing upon starting to walk. Extensive clinical and laboratory investigation was unremarkable. Twenty to 22 months after the onset of falls, both children developed subtle choreiform movements, affecting all four limbs, leading to frequent falls, at times causing traumatic injury...
August 2015: Developmental Medicine and Child Neurology
Gilad Yahalom, Yair Anikster, Ruth Huna-Baron, Chen Hoffmann, Lubov Blumkin, Dorit Lev, Rakefet Tsabari, Zeev Nitsan, Sheera F Lerman, Bruria Ben-Zeev, Ben Pode-Shakked, Shira Sofer, Avraham Schweiger, Tally Lerman-Sagie, Sharon Hassin-Baer
Costeff syndrome (CS) is a rare autosomal-recessive neurological disorder, which is known almost exclusively in patients of Iraqi Jewish descent, manifesting in childhood with optic atrophy, ataxia, chorea and spastic paraparesis. Our aim was to study the clinical spectrum of CS and natural history using a cross-sectional study design. Consecutive patients with CS were recruited to the study. Patients were diagnosed based on clinical features, along with elevated urinary levels of methylglutaconic and methylglutaric acid, and by identification of the disease-causing mutation in the OPA3 gene in most...
December 2014: Journal of Neurology
Hanan Al Hamzi, Badrieh Alhaymouni, Ahmad Al Shaikh, Sulaiman M Al-Mayouf
OBJECTIVES: We aimed to describe the social, educational, employment and long-term clinical outcomes of adults with childhood-onset systemic lupus erythematosus (SLE) in a Saudi cohort. METHODS: All adult patients with childhood-onset SLE who were treated and had regular follow-up between 1990 and 2013 at King Faisal Specialist Hospital and Research Centre (KFSH-RC), Riyadh were included. The long-term outcome measures comprised SLE Disease Activity and Damage Indices at the last follow-up visit and death related to SLE...
November 2014: Clinical and Experimental Rheumatology
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