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Priscila A C Valadão, Matheus P S M Gomes, Bárbara C Aragão, Hermann A Rodrigues, Jéssica N Andrade, Rubens Garcias, Julliane V Joviano-Santos, Murilo A Luiz, Wallace L Camargo, Lígia A Naves, Christopher Kushmerick, Walter L G Cavalcante, Márcia Gallacci, Itamar C G de Jesus, Silvia Guatimosim, Cristina Guatimosim
Huntington's disease (HD) is an autosomal dominant neurodegenerative disease characterized by chorea, incoordination, and psychiatric and behavioral symptoms. The leading cause of death in HD patients is aspiration pneumonia, associated with respiratory dysfunction, decreased respiratory muscle strength and dysphagia. Although most of the motor symptoms are derived from alterations in the central nervous system, some might be associated with changes in the components of motor units (MU). To explore this hypothesis, we evaluated morphofunctional aspects of the diaphragm muscle in a mouse model of HD (BACHD)...
March 9, 2018: Neurochemistry International
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
Sandra M Holley, Talia Kamdjou, Jack C Reidling, Brian Fury, Dane Coleal-Bergum, Gerhard Bauer, Leslie M Thompson, Michael S Levine, Carlos Cepeda
The principal symptoms of Huntington's disease (HD), chorea, cognitive deficits, and psychiatric symptoms are associated with the massive loss of striatal and cortical projection neurons. As current drug therapies only partially alleviate symptoms, finding alternative treatments has become peremptory. Cell replacement using stem cells is a rapidly expanding field that offers such an alternative. In this review, we examine recent studies that use mesenchymal cells, as well as pluripotent, cell-derived products in animal models of HD...
March 6, 2018: CNS Neuroscience & Therapeutics
Wolfgang Reith
Neurodegenerative diseases are sporadic and rare hereditary disorders of the central nervous system, which cause a slowly progressive loss of function of specific neuron populations and their connections. Severe impairments and care dependency can be the sequelae. Neurodegenerative disorders are diseases of older people; therefore, the demographic shift leads to an increase in the number of affected patients. Radiologists will also become more involved. For this reason important neurodegenerative diseases are presented in this article...
March 2018: Der Radiologe
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
Marissa Dean, Victor W Sung
Deutetrabenazine was recently approved for the treatment of chorea in Huntington's disease (HD) and is the first deuterated medication that has been US Food and Drug Administration (FDA)-approved for therapeutic use. In this article, we review deutetrabenazine's drug design, pharmacokinetics, drug interactions, efficacy, adverse events, comparison with tetrabenazine, dosage, and administration. Deutetrabenazine is a deuterated form of tetrabenazine and is a vesicular monoamine transporter 2 (VMAT2) inhibitor...
2018: Drug Design, Development and Therapy
S Zittel, V Tadic, C K E Moll, T Bäumer, A Fellbrich, A Gulberti, D Rasche, N Brüggemann, V Tronnier, A Münchau
INTRODUCTION: Pharmacological treatment of chorea in Huntington's disease (HD) is often limited by poor efficacy or side effects. Pallidal deep brain stimulation (DBS) has been considered in these patients but experience is so far limited. METHODS: We prospectively evaluated the effects of bilateral DBS of the Globus pallidus internus (GPi) over one year in six severely affected HD patients with treatment refractory chorea in an advanced stage of the disease. Primary endpoint of the study was improvement in chorea...
February 20, 2018: Parkinsonism & related Disorders
Pavao Jurinović, Eni Jadrijević, Ana Repić-Buličić, Marina Titlić
Chorea is a movement disorder that can be caused by a large range of degenerative, vascular, metabolic and toxic disorders in basal ganglia. Arteriovenous malformations are rare vascular malformations the clinical presentation of which depends on the malformation characteristics and localization. They are most commonly presented with intracranial hemorrhage, while focal neurological deficit is the rarest presentation. A case is reported of a 64-year-old female patient presented with hemichorea. Magnetic resonance imaging and digital subtraction angiography revealed the presence of arteriovenous malformation in the right temporal lobe...
September 2017: Acta Clinica Croatica
Beatriz Villafuerte, Daniel Natera-de Benito, Aidy González, María A Mori, María Palomares, Julián Nevado, Sixto García-Miñaur, Pablo Lapunzina, Luis I González-Granado, Luis M Allende, José C Moreno
Genetic defects of NKX2-1 are classically associated with hypothyroidism, benign chorea and neonatal respiratory distress. The purpose of this study was to identify the genetic pathogenesis of the "NKX2-1 triad" in a 10 year-old female presenting additional features barely described in the disorder. In the neonatal period, she presented with generalized hypotonia and respiratory distress, with later episodes of frequent wheezing. At 3 month-age developmental dysplasia of the hip was diagnosed and at 10 months, primary hypothyroidism was detected and treated...
February 22, 2018: European Journal of Medical Genetics
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...
February 22, 2018: Neuropediatrics
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
Victor Galvez, Gabriel Ramírez-García, Carlos R Hernandez-Castillo, Leo Bayliss, Rosalinda Díaz, María Margarita Lopez-Titla, Aurelio Campos-Romo, Juan Fernandez-Ruiz
INTRODUCTION: Striatal degeneration has significant behavioral effects in patients with Huntington's disease (HD). However, there is scant evidence of the possible contribution of extrastriatal regions to the motor alterations assessed within the different domains of the Unified Huntington's Disease Rating Scale (UHDRS). OBJECTIVE: Analyze if extrastriatal grey matter decrease in patients with HD correlates with motor performance assessed with the UHDRS and its different domains...
February 15, 2018: Journal of the Neurological Sciences
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
Jia Liu, Helmut Heinsen, Lea T Grinberg, Eduardo Alho, Edson Amaro, Carlos A Pasqualucci, Udo Rüb, Wilfred den Dunnen, Thomas Arzberger, Christoph Schmitz, Maren Kiessling, Benedikt Bader, Adrian Danek
INTRODUCTION: Chorea-acanthocytosis (ChAc) and Huntington's disease (HD) are neurodegenerative conditions that share clinical and neuropathological features, despite their distinct genetic etiologies. METHODS: In order to compare these neuropathologies, serial gallocyanin-stained brain sections from three subjects with ChAc were analyzed and compared with our previous studies of eight HD cases, in addition to three hemispheres from two male controls. RESULTS: Astrogliosis was much greater in the ChAc striatum, as compared to that found in HD, with dramatic increase in total striatal glia numbers and the number of glia per striatal neuron...
January 10, 2018: Parkinsonism & related Disorders
Antonio E Elia, Caterina F Bagella, Francesca Ferré, Giovanna Zorzi, Daniela Calandrella, Luigi M Romito
Cerebral palsy (CP) is a heterogeneous group of syndromes that cause a non-progressive disorder of early onset, with abnormal control of movement and posture. Various aetiologies can cause the CP clinical spectrum, but all have a disruption of motor control in common. CP can be divided into four major types based on the motor disability: predominant spastic, dyskinetic, ataxic and mixed form. Dyskinetic CP (DCP) is the most common cause of acquired dystonia in children. The treatment of DCP is challenging because most individuals have mixed degrees of chorea, athetosis and dystonia...
December 14, 2017: 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
Victor W Sung, Ravi G Iyer, Sanjay K Gandhi, Bijal Shah-Manek, Marco DiBonaventura, Victor Abler, Daniel O Claassen
OBJECTIVE: To survey neurologists and obtain clinical perceptions of tetrabenazine for the treatment of chorea in patients with Huntington disease (HD). METHODS: Board-certified/board-eligible neurologists, in practice for ≥5 years, who treat ≥3 HD patients in the past 2 years, were recruited from an online physician panel to participate in a cross-sectional, web-based survey. Respondents provided information about themselves, their practice, approaches to HD chorea management, and perceptions of available treatments...
January 31, 2018: Current Medical Research and Opinion
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
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