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hyperkinetic disorders

Umberto Raucci, Pasquale Parisi, Nicola Vanacore, Giacomo Garone, Claudia Bondone, Antonella Palmieri, Lucia Calistri, Agnese Suppiej, Raffaele Falsaperla, Alessandro Capuano, Valentina Ferro, Antonio Francesco Urbino, Ramona Tallone, Alessandra Montemaggi, Stefano Sartori, Piero Pavone, Margherita Mancardi, Federico Melani, Lucrezia Ilvento, Maria Federica Pelizza, Antonino Reale
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...
March 8, 2018: Archives of Disease in Childhood
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 a frameshift, missense and a partial duplication 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 MRI shows basal ganglia or diffuse white matter T2 hyperintensities as seen in Leigh syndrome and chorea-acanthocytosis...
March 8, 2018: Annals of Neurology
Daniel Savitt, Joseph Jankovic
Tardive syndromes are a group of hyperkinetic and hypokinetic movement disorders that occur after some delay following exposure to dopamine receptor blocking agents such as antipsychotic and anti-emetic drugs. The severity of these disorders ranges from mild to disabling or even life-threatening. There is a wide range of recognized tardive phenomenologies that may occur in isolation or in combination with each other. These phenomenologies include stereotypy, dystonia, chorea, akathisia, myoclonus, tremor, tics, gait disorders, parkinsonism, ocular deviations, respiratory dyskinesia, and a variety of sensory symptoms...
February 5, 2018: Journal of the Neurological Sciences
Rahul Badheka, Narendra Kumar Barad, Charulata Savant Sankhla
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. This is unlike the situation in adult movement disorders where hypokinetic disorders are more often seen. A child's nervous system is more prone to hypoxic-ischemic insults due to its higher metabolic demands and the presence of an immature blood-brain barrier...
March 2018: Neurology India
Amit Batla
Dystonia is a hyperkinetic movement disorder characterized by sustained or intermittent muscle contractions that cause abnormal repetitive movements, abnormal postures, or both. The new consensus classifies dystonia into two axes to characterize clinical characteristics, and etiology. This system allows correct identification of isolated and combined forms of dystonia and retains the description of generalized and focal dystonia which is very useful in planning investigations and management. The characterization of dystonia for its better identification and a brief overview of its management are discussed in this article...
March 2018: Neurology India
Trishna Kantamneni, Lileth Mondok, Sumit Parikh
Movement disorders in the pediatric age group are largely of the hyperkinetic type. Metal ion accumulation in the central nervous system presents predominantly with movement disorders and over time leads to psychomotor decline. Abnormalities in monoamine and amino acidergic neurotransmitter metabolism present in individuals with a combination of abnormal movements, epilepsy, and cognitive and motor delay. Detailed clinical history, careful examination, appropriate diagnostic work-up with metabolic screening, cerebrospinal fluid neurotransmitters, and targeted genetic testing help with accurate diagnosis and appropriate treatment...
April 2018: Pediatric Clinics of North America
Véronique Sgambato, Léon Tremblay
The MPTP monkey model of Parkinson's disease (PD) has allowed huge advances regarding the understanding of the pathological mechanisms of PD and L-DOPA-induced adverse effects. Among the main findings were the imbalance between the efferent striatal pathways in opposite directions between the hypokinetic and hyperkinetic states of PD. In both normal and parkinsonian monkeys, the combination of behavioral and anatomical studies has allowed the deciphering of the cortico-basal ganglia circuits involved in both movement and behavioral disorders...
March 3, 2018: Journal of Neural Transmission
M Angela Cenci, Alan R Crossman
Understanding the biological mechanisms of l-dopa-induced motor complications is dependent on our ability to investigate these phenomena in animal models of Parkinson's disease. The most common motor complications consist in wearing-off fluctuations and abnormal involuntary movements appearing when plasma levels of l-dopa are high, commonly referred to as peak-dose l-dopa-induced dyskinesia. Parkinsonian models exhibiting these features have been well-characterized in both rodent and nonhuman primate species...
February 28, 2018: Movement Disorders: Official Journal of the Movement Disorder Society
Nicki Niemann, Joseph Jankovic
Tardive dyskinesia (TD) encompasses the spectrum of iatrogenic hyperkinetic movement disorders following exposure to dopamine receptor-blocking agents (DRBAs). Despite the advent of atypical or second- and third-generation antipsychotics with a presumably lower risk of complications, TD remains a persistent and challenging problem. Prevention is the first step in mitigating the risk of TD, but early recognition, gradual withdrawal of offending medications, and appropriate treatment are also critical. As TD is often a persistent and troublesome disorder, specific antidyskinetic therapies are often needed for symptomatic relief...
February 26, 2018: Drugs
Kazushi Ichikawa, Megumi Tsuji, Yu Tsuyusaki, Moyoko Tomiyasu, Noriko Aida, Tomohide Goto
Gamma-aminobutyric acid transaminase (GABA-T) deficiency is a rare, autosomal recessive disorder characterized by severe psychomotor retardation, early-onset epileptic encephalopathy, intractable seizures, hypotonia, and hyperreflexia. The disease is caused by mutation in the 4-aminobutyrate aminotransferase (ABAT) gene, which encodes an enzyme involved in GABA catabolism. In this chapter, a 10-year follow-up of GABA-T deficiency in a rare case of a long-term survivor patient is discussed. The patient showed a progression of clinical phases with increasing age...
February 25, 2018: JIMD Reports
Sufei He, Miao Wang, Jinhua Si, Tianyi Zhang, Hong Cui, Xiumei Gao
INTRODUCTION: Attention deficit hyperactivity disorder (ADHD) is one of the most commonly diagnosed and treated childhood psychiatric disorders. The analogous diagnosis adopted in Europe is hyperkinetic disorder, which is defined in the WHO's International Classification of Diseases 10th edition (ICD-10). Hyperkinetic disorder includes more severe conditions. Ginkgo preparations are used in the treatment of ADHD. The present study will assess the efficacy and safety of ginkgo preparations in the treatment of ADHD in the currently published literature...
February 20, 2018: BMJ Open
Alyssa M Peckham, Jessica A Nicewonder
Tardive dyskinesia is a potentially irreversible, debilitating, hyperkinetic movement disorder that can result from dopamine receptor antagonists. Prompt recognition and resolution of symptoms are instrumental in preventing disease irreversibility, though current treatment options have fallen short of robust, effective, and long-term symptom control. In April 2017, the Food and Drug Administration (FDA) approved 2 new vesicular monoamine transporter 2 (VMAT2) inhibitors, deutetrabenazine and valbenazine, for chorea related to Huntington's disease and tardive dyskinesia, respectively...
January 1, 2018: Journal of Pharmacy Practice
Stanley N Caroff, Gabor S Ungvari, David G Cunningham Owens
Tardive dyskinesia (TD) is a persistent hyperkinetic movement disorder associated with dopamine receptor blocking agents including antipsychotic medications. Although uncertainty and concern about this drug side effect has vacillated since its initial recognition 60 years ago, recent commercial interest in developing effective treatments has rekindled scientific and clinical interest after a protracted period of neglect. Although substantial research has advanced knowledge of the clinical features and epidemiology of TD, many fundamental questions raised by early investigators remain unresolved...
February 3, 2018: Journal of the Neurological Sciences
Laura M Scorr, Stewart A Factor
Tardive dyskinesia (TD) is an often disabling hyperkinetic movement disorder caused by exposure to dopamine receptor blocking agents. Although initially thought to most commonly occur with typical antipsychotics, the incidence is likely similar with atypical antipsychotics and antiemetics such as metoclopramide. Increased prescribing of these agents as well as low rates of remission have contributed to a rising prevalence of TD. Although this condition was described nearly 60 years ago, it is only within the past year that two novel therapeutic agents were FDA approved...
February 5, 2018: Journal of the Neurological Sciences
Elisabeth B Lucassen, William T Delfyett, Mark C Stahl
Background: Neurological complications of diabetes and hyperglycemia are relatively common but the specific manifestations can vary widely. Diabetic striatal disease or "diabetic striatopathy" is an uncommon condition usually thought to result from hyperglycemic injury to the basal ganglia, producing a hyperkinetic movement disorder, usually choreiform in nature. Symptoms are generally reversible with treatment of the hyperglycemia. Case Description: We report the case of a 57-year-old woman presenting with a unilateral choreoathetosis of the left upper extremity, persistent for 4 years...
September 2017: Case Reports in Neurology
Dean Walton, Michael Bonello, Malcolm Steiger
A 78-year-old woman presented with involuntary movements of her abdomen, which started after a right hemispheric stroke. She had irregular, variable, hyperkinetic predominantly right-sided abdominal wall movements. MR scan of brain confirmed a recent infarct in the right occipitotemporal lobe and the right cerebellum. Diaphragmatic fluoroscopy confirmed high-frequency flutter as the cause of her abdominal movements and confirmed the diagnosis of van Leeuwenhoek's disease. Anthonie van Leeuwenhoek first described this condition in 1723 and had the condition himself...
February 1, 2018: Practical Neurology
José Fidel Baizabal-Carvallo, Joseph Jankovic
Movement disorders (MDs) are common in patients with autoimmune disorders affecting the central and peripheral nervous system. They may be observed in autoimmune disorders triggered by an infectious agent, such as streptococcus in Sydenham's chorea, or in basal ganglia encephalitis with antibodies against the dopamine-D2 receptors. In these patients chorea or dystonia are usually the most prominent hyperkinetic MDs. MDs are also observed in patients with diffuse or limbic encephalitis with antibodies directed against neuronal cell-surface antigens...
February 15, 2018: Journal of the Neurological Sciences
Zahari N Tchopev, Ping-Hong Yeh, Greg W Morgan, Eric Meyer, Johanna M Wolf, John M Ollinger, Gerard P Riedy, Lisa C Young
Sleep-related hypermotor epilepsy (SHE) (previously frontal lobe epilepsy) is a rare seizure disorder commonly misdiagnosed or unrecognized, causing negative patient sequelae. While usually reported in familial studies, it is more commonly acquired. Diagnosis is a challenge due to its low incidence in comparison with the more common sleep disorders or psychogenic etiologies in the differential diagnosis. Diagnosis is scaled on degree of certainty based on described or clinically documented semiology, with video EEG as a helpful, but not necessary, adjunct...
2018: Frontiers in Neurology
Tiziana Granata, Sara Matricardi, Francesca Ragona, Elena Freri, Federica Zibordi, Francesca Andreetta, Simona Binelli, Nardo Nardocci
Anti-N-Methyl-d-aspartate-receptor (NMDAR) encephalitis is the most frequent autoimmune encephalitis in pediatric age. This retrospective observational study was aimed at describing the clinical characteristics of the disease in a cohort of children and teenagers. Eighteen patients (10 females and 8 males), with a median age of 12.4 years at symptom onset were enrolled. The clinical presentation of the disease was marked by neurological manifestations in 13 patients and by severe psychiatric and behavioral symptoms in 5...
January 26, 2018: European Journal of Paediatric Neurology: EJPN
Vincenzo Salpietro, Belen Perez-Dueñas, Kosuke Nakashima, Victoria San Antonio-Arce, Andreea Manole, Stephanie Efthymiou, Jana Vandrovcova, Conceicao Bettencourt, Niccolò E Mencacci, Christine Klein, Michy P Kelly, Ceri H Davies, Haruhide Kimura, Alfons Macaya, Henry Houlden
BACKGROUND: We investigated a family that presented with an infantile-onset chorea-predominant movement disorder, negative for NKX2-1, ADCY5, and PDE10A mutations. METHODS: Phenotypic characterization and trio whole-exome sequencing was carried out in the family. RESULTS: We identified a homozygous mutation affecting the GAF-B domain of the 3',5'-cyclic nucleotide phosphodiesterase PDE2A gene (c.1439A>G; p.Asp480Gly) as the candidate novel genetic cause of chorea in the proband...
February 2, 2018: Movement Disorders: Official Journal of the Movement Disorder Society
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