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Franziska Richter, Julia Gerstenberger, Anne Bauer, Chun-Chi Liang, Angelika Richter
Hereditary generalized dystonia is often caused by a GAG deletion in TOR1A (DYT1) that encodes for the protein torsinA. Although mutation carriers show alterations in neuronal connectivity and sensorimotor deficits, only 30% develop dystonia. Uncovering the factors triggering the dystonic symptoms and underlying pathophysiology would greatly benefit the development of more effective therapies. In DYT1 knock-in (KI) mice, the expression of torsinA mutant alters the connectivity of neurons and the function of striatal cholinergic interneurons...
October 18, 2016: Behavioural Brain Research
Paola Perozzo, Adriana Salatino, Paolo Cerrato, Raffaella Ricci
Mood, anxiety, and other psychological symptoms are common in dystonic patients suffering from blepharospasm (BSP) and spasmodic torticollis (ST). Since sexual well-being is an important aspect of mental health, here, we investigated whether these patients may also experience a worsening of their sexual life. In particular, quality of sexual life was evaluated in patients suffering from BSP (N = 30), ST (N = 30), and in a control group of patient with Hemifacial spasm (HFS; N = 30), undergoing botulinum toxin type A therapy...
2016: Frontiers in Psychology
Shimpei Baba, Takashi Saito, Yasukazu Yamada, Eri Takeshita, Noriko Nomura, Kenichiro Yamada, Nobuaki Wakamatsu, Masayuki Sasaki
Lesch-Nyhan disease (LND) is a rare X-linked recessive disorder caused by deficiency of the purine salvage enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT), encoded by the HPRT1. To date, nearly all types of mutations have been reported in the whole gene; however, duplication mutations are rare. We here report the case of a 9-month-old boy with LND. He showed developmental delay, athetosis, and dystonic posture from early infancy, but no self-injurious behaviors. Hyperuricemia was detected, and his HPRT enzyme activity in erythrocytes was completely deficient...
October 18, 2016: Nucleosides, Nucleotides & Nucleic Acids
Deepa Dash, Madhavi Tripathi, Kavish Ihtisham, Manjari Tripathi
Limbic encephalitis is a group of immune-mediated disorders that includes the classic paraneoplastic encephalitic syndrome and the recently described non-paraneoplastic autoimmune encephalitis most of which target the extracellular antigens. We present a case of 70-year-old man who presented with rapidly progressive cognitive decline and refractory faciobrachial dystonic seizures and demonstrated seropositivity for leucine-rich, glioma-inactivated protein 1 antibodies. After immunomodulation, the patient had dramatic improvement in the cognitive functioning and in seizure control...
October 13, 2016: BMJ Case Reports
Vikram G Shakkottai, Amit Batla, Kailash Bhatia, William T Dauer, Christian Dresel, Martin Niethammer, David Eidelberg, Robert S Raike, Yoland Smith, H A Jinnah, Ellen J Hess, Sabine Meunier, Mark Hallett, Rachel Fremont, Kamran Khodakhah, Mark S LeDoux, Traian Popa, Cécile Gallea, Stéphane Lehericy, Andreea C Bostan, Peter L Strick
A role for the cerebellum in causing ataxia, a disorder characterized by uncoordinated movement, is widely accepted. Recent work has suggested that alterations in activity, connectivity, and structure of the cerebellum are also associated with dystonia, a neurological disorder characterized by abnormal and sustained muscle contractions often leading to abnormal maintained postures. In this manuscript, the authors discuss their views on how the cerebellum may play a role in dystonia. The following topics are discussed: The relationships between neuronal/network dysfunctions and motor abnormalities in rodent models of dystonia...
October 12, 2016: Cerebellum
Adolfo Ramirez-Zamora, Heather Smith, Vignessh Kumar, Julia Prusik, Sujoy Phookan, Julie G Pilitsis
BACKGROUND: Although thalamic deep brain stimulation (DBS) has been established as an effective therapy for refractory tremor in Parkinson's disease and essential tremor, reports investigating the efficacy of posterior subthalamic area (PSA) DBS for severe, debilitating tremors continue to emerge. However, questions regarding the optimal anatomical target, surgical approach, programming paradigms and effectiveness compared to other targets remain. OBJECTIVES: In this report, we aimed to review the current literature to assess different stereotactic techniques, anatomical considerations, adverse effects and stimulation settings in PSA DBS...
October 12, 2016: Stereotactic and Functional Neurosurgery
Daniel E Lumsden, Hortensia Gimeno, Jean-Pierre Lin
OBJECTIVE: The most recent international consensus update on dystonia classification proposed a system based on 2 axes, clinical characteristics and aetiology. We aimed to apply this system to Children and Young People (CAYP) selected for movement disorder surgery, and determine if meaningful groupings of cases could be extracted. METHODS: The 2013 Consensus Committee classification system for dystonia was retrospectively applied to 145 CAYP with dystonic movement disorders...
October 3, 2016: Parkinsonism & related Disorders
Anna Castrioto, Odeya Marmor, Marc Deffains, Dafna Willner, Eduard Linetsky, Hagai Bergman, Zvi Israel, Renana Eitan, David Arkadir
Classical rate models of basal ganglia circuitry associate discharge rate of the globus pallidus external and internal segments (GPe, GPi respectively) solely with dopaminergic state and predict an inverse ratio between the discharge rates of the two pallidal segments. In contrast, the effects of other rate modulators such as general anesthesia (GA) on this ratio have been ignored. To respond to this need, we recorded the neuronal activity in the GPe and GPi in awake and anesthetized human patients with dystonia (57 and 53 trajectories respectively) and in awake patients with Parkinson's disease (PD, 16 trajectories) undergoing deep brain stimulation procedures...
September 26, 2016: European Journal of Neuroscience
Christos I Ioannou, Shinichi Furuya, Eckart Altenmüller
Five musicians suffering from focal dystonia participated in a pilot study that examined the feasibility of an experimental protocol designed to assess musicians' motor performance under stress. Electrocardiography, free cortisol levels, and subjective assessments were used to monitor alterations of the hypothalamic-pituitary-adrenal axis. As measures of motor outcome, temporal variability of finger movements and muscular cocontraction of the wrist flexor and extensor were assessed. Findings suggest that the specific experimental design could be successfully applied...
August 11, 2016: Journal of Motor Behavior
Kirsten E Zeuner, Albert Acewicz, Arne Knutzen, Dirk Dressler, Katja Lohmann, Karsten Witt
Writers' cramp is a movement disorder with dystonic co-contraction of fingers and hand during writing and is part of the clinical spectrum of focal dystonias. Previous studies showed reduced striatal dopamine receptor D2 (DRD2) availability in dystonia. The expression of D2 receptors is modulated by a DRD2/ANKK1-Taq1A polymorphism (rs1800497). This study addresses the question of whether the DRD2/ANKK1-Taq1A polymorphism is a risk factor for writer's cramp. We determined the DRD2/ANKK1-Taq1A polymorphism 34 patients with writer's cramp compared to 67 age matched controls...
October 4, 2016: Journal of Neurogenetics
Eric C Landsness, Leo H Wang, Robert C Bucelli
Migraine headache is among the most prevalent neurologic disorders. Status migrainosus often leads to hospitalization, and multiple medications are sometimes required for symptomatic relief. In 2008, neurologists at our institution started using the atypical antipsychotic ziprasidone as an abortive medication for status migrainosus. The Clinical Investigation Data Exploration Repository was used to search for patients admitted to the Barnes-Jewish Hospital inpatient neurology service with diagnoses of "headache" or "migraine...
October 2016: Neurohospitalist
Laura Cif, Philippe Coubes
BACKGROUND: Heterogeneous by the underlying pathobiology and clinical presentation, childhood onset dystonia is most frequently progressive, with related disability and limitations in functions of daily living. Consequently, there is an obvious need for efficient symptomatic therapies. METHODS AND RESULTS: Following lesional surgery to basal ganglia (BG) and thalamus, deep brain stimulation (DBS) is a more conservative and adjustable intervention to and validated for internal segment of the globus pallidus (GPi), highly efficient in treating isolated "primary" dystonia and associated symptoms such as subcortical myoclonus...
September 7, 2016: European Journal of Paediatric Neurology: EJPN
Adolfo Ramirez-Zamora, Brian Kaszuba, Lucy Gee, Julia Prusik, Eric Molho, Meghan Wilock, Damian Shin, Julie G Pilitsis
OBJECTIVES: Dystonic tremor (DT) is defined as a postural/kinetic tremor occurring in the body region affected by dystonia. DT is typically characterized by focal tremors with irregular amplitudes and variable frequencies typically below 7Hz. Pharmacological treatment is generally unsuccessful and guidelines for deep brain stimulation (DBS) targeting and indications are scarce. In this article, we present the outcome and neurophysiologic data of two patients with refractory, focal limb DT treated with Globus Pallidus interna (Gpi) DBS and critically review the current literature regarding surgical treatment of DT discussing stereotactic targets and treatment considerations...
November 2016: Clinical Neurology and Neurosurgery
Sima A Desai, Heidi K Wennemer, Roman Zolotoy
No abstract text is available yet for this article.
September 2016: PM & R: the Journal of Injury, Function, and Rehabilitation
Elena Antelmi, Roberto Erro, Lorenzo Rocchi, Rocco Liguori, Michele Tinazzi, Flavio Di Stasio, Alfredo Berardelli, John C Rothwell, Kailash P Bhatia
BACKGROUND: Somatosensory temporal discrimination threshold is often prolonged in patients with dystonia. Previous evidence suggested that this might be caused by impaired somatosensory processing in the time domain. Here, we tested if other markers of reduced inhibition in the somatosensory system might also contribute to abnormal somatosensory temporal discrimination in dystonia. METHODS: Somatosensory temporal discrimination threshold was measured in 19 patients with isolated cervical dystonia and 19 age-matched healthy controls...
September 27, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
Osamu Watanabe
Voltage-gated potassium channel (VGKC) complex antibodies are auto-antibodies, initially identified in acquired neuromyotonia (aNMT; Isaacs' syndrome), which cause muscle cramps and difficulty in opening the palm of the hands. Subsequently, these antibodies were found in patients presenting with aNMT along with psychosis, insomnia, and dysautonomia, collectively termed Morvan's syndrome (MoS), and in a limbic encephalopathy (LE) patient with prominent amnesia and frequent seizures. Typical LE cases have a distinctive adult-onset, frequent, brief dystonic seizure semiology that predominantly affects the arms and ipsilateral face...
September 2016: Brain and Nerve, Shinkei Kenkyū No Shinpo
Michael Zech, Sylvia Boesch, Angela Jochim, Sandrina Weber, Tobias Meindl, Barbara Schormair, Thomas Wieland, Christian Lunetta, Valeria Sansone, Michael Messner, Joerg Mueller, Andres Ceballos-Baumann, Tim M Strom, Roberto Colombo, Werner Poewe, Bernhard Haslinger, Juliane Winkelmann
BACKGROUND: Dystonia is clinically and genetically heterogeneous. Despite being a first-line testing tool for heterogeneous inherited disorders, whole-exome sequencing has not yet been evaluated in dystonia diagnostics. We set up a pilot study to address the yield of whole-exome sequencing for early-onset generalized dystonia, a disease subtype enriched for monogenic causation. METHODS: Clinical whole-exome sequencing coupled with bioinformatics analysis and detailed phenotyping of mutation carriers was performed on 16 consecutive cases with genetically undefined early-onset generalized dystonia...
September 26, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
Mamtha S Raj, Joseph H Schwab
BACKGROUND CONTEXT: Acute fixed cervical kyphosis may be a rare presentation of conversion disorder, psychogenic dystonia, and potentially as a side effect from typical antipsychotic drugs. Haldol has been associated with acute dystonic reactions. In some cases, rigid deformities ensue. We are reporting a case of a fixed cervical kyphosis after the use of Haldol. PURPOSE: To present a case of a potential acute dystonic reaction temporally associated with Haldol ingestion leading to fixed cervical kyphosis...
September 21, 2016: Spine Journal: Official Journal of the North American Spine Society
Allana Austin, Jean-Pierre Lin, Richard Selway, Keyoumars Ashkan, Tamsin Owen
BACKGROUND: Dystonia is characterised by involuntary movements and postures. Deep Brain Stimulation (DBS) is effective in reducing dystonic symptoms in primary dystonia in childhood and to lesser extent in secondary dystonia. How families and children decide to choose DBS surgery has never been explored. AIMS: To explore parental decision-making for DBS in paediatric secondary dystonia. METHODS: Data was gathered using semi-structured interviews with eight parents of children with secondary dystonia who had undergone DBS...
September 6, 2016: European Journal of Paediatric Neurology: EJPN
Rafael L O'Halloran, Alexander G Chartrain, Jonathan J Rasouli, Ritesh A Ramdhani, Brian Harris Kopell
BACKGROUND: The caudal zona incerta (cZI) is an increasingly popular deep brain stimulation (DBS) target for the treatment of tremor-predominant disease. The dentatorubrothalamic tract (DRTT) is a white matter fiber bundle that traverses the cZI and can be identified using diffusion-weighted magnetic resonance imaging fiber tractography to ascertain its precise course. In this report, we compare 2 patient cases of cZI DBS, a responder and a nonresponder. CASE DESCRIPTION: Patient 1 (responder) is a 65-year-old man with medically refractory Parkinson disease who underwent bilateral DBS lead placement in the cZI...
September 1, 2016: World Neurosurgery
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