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Tourette

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https://www.readbyqxmd.com/read/28641109/rare-copy-number-variants-in-nrxn1-and-cntn6-increase-risk-for-tourette-syndrome
#1
Alden Y Huang, Dongmei Yu, Lea K Davis, Jae Hoon Sul, Fotis Tsetsos, Vasily Ramensky, Ivette Zelaya, Eliana Marisa Ramos, Lisa Osiecki, Jason A Chen, Lauren M McGrath, Cornelia Illmann, Paul Sandor, Cathy L Barr, Marco Grados, Harvey S Singer, Markus M Nöthen, Johannes Hebebrand, Robert A King, Yves Dion, Guy Rouleau, Cathy L Budman, Christel Depienne, Yulia Worbe, Andreas Hartmann, Kirsten R Müller-Vahl, Manfred Stuhrmann, Harald Aschauer, Mara Stamenkovic, Monika Schloegelhofer, Anastasios Konstantinidis, Gholson J Lyon, William M McMahon, Csaba Barta, Zsanett Tarnok, Peter Nagy, James R Batterson, Renata Rizzo, Danielle C Cath, Tomasz Wolanczyk, Cheston Berlin, Irene A Malaty, Michael S Okun, Douglas W Woods, Elliott Rees, Carlos N Pato, Michele T Pato, James A Knowles, Danielle Posthuma, David L Pauls, Nancy J Cox, Benjamin M Neale, Nelson B Freimer, Peristera Paschou, Carol A Mathews, Jeremiah M Scharf, Giovanni Coppola
Tourette syndrome (TS) is a model neuropsychiatric disorder thought to arise from abnormal development and/or maintenance of cortico-striato-thalamo-cortical circuits. TS is highly heritable, but its underlying genetic causes are still elusive, and no genome-wide significant loci have been discovered to date. We analyzed a European ancestry sample of 2,434 TS cases and 4,093 ancestry-matched controls for rare (< 1% frequency) copy-number variants (CNVs) using SNP microarray data. We observed an enrichment of global CNV burden that was prominent for large (> 1 Mb), singleton events (OR = 2...
June 21, 2017: Neuron
https://www.readbyqxmd.com/read/28641101/copy-number-variation-in-tourette-syndrome
#2
Anne S Bassett, Stephen W Scherer
In the current issue of Neuron, Huang et al. (2017) provide new insights from a consortium study of Tourette syndrome pinpointing copy number variations that are involved in the genomic architecture and implicate genes of interest.
June 21, 2017: Neuron
https://www.readbyqxmd.com/read/28624893/ly294002-a-pi3k-inhibitor-attenuates-tourette-syndrome-in-rats
#3
Long Hongyan, Wang Chunyan, Yang Yue'e
The present study was designed to investigate the effects of LY294002 on Tourette syndrome (TS) in rats. TS model was induced in rats by DOI (the selective 5-HT2A/2C agonist 1- (2, 5- dimethoxy -4 - iodophenyl) -2- aminopropane). Behavior was assessed by stereotypic score and autonomic activity. Inflammatory cytokines such as interleukin-6 (IL-6), interleukin-1β (IL-1β) and tumor necrosis factor-α (TNF-α) in serum and striatum were detected. The protein levels of PI3K/Akt/NF-B in striatum were detected by Western Blot...
June 18, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28624144/-feasibility-of-outpatient-laparoscopic-sacrocolpopexy-surgery-a-pilot-study
#4
C Rambeaud, M Marcelli, L Cravello, L Boubli, C Tourette, A Agostini
OBJECTIVE: To evaluate the feasibility of outpatient laparoscopic sacrocolpopexy surgery. METHODS: A prospective analysis was carried out in one center from May 2014 to July 2015. The main outcome was the success of day care, meaning no hospitalization, consultation to a doctor or emergency during the first 48h following the surgery. Patients requiring laparoscopic sacrocolpopexy with eligibility for day care were included. The patients were not included if they didn't match to the administrative or medical criteria of ambulatory, or if they refused ambulatory surgery...
June 14, 2017: Progrès en Urologie
https://www.readbyqxmd.com/read/28614965/the-co-occurrence-of-autism-spectrum-disorder-in-children-with-adhd
#5
Benjamin Zablotsky, Matthew D Bramlett, Stephen J Blumberg
OBJECTIVE: Children with ADHD frequently present with autism spectrum disorder (ASD) symptomatology, yet there is a notable gap in the treatment needs of this subpopulation, including whether the presence of ASD may be associated with more severe ADHD symptoms. METHOD: Data from the 2014 National Survey of the Diagnosis and Treatment of ADHD and Tourette Syndrome ( n = 2,464) were used to compare children diagnosed with ADHD and ASD with children with ADHD, but not ASD...
June 1, 2017: Journal of Attention Disorders
https://www.readbyqxmd.com/read/28611559/pediatric-tourette-syndrome-a-tic-disorder-with-a-tricky-presentation
#6
Qurratul Warsi, Caroline Kirby, Mirza Beg
Dysphagia is a condition in which disruption of the swallowing process interferes with a patient's ability to eat. This may result in coughing or choking while swallowing, food sticking in the throat, or globus sensation. Eosinophilic esophagitis (EoE) is a chronic immune-mediated disease with a varied clinical spectrum of symptoms including dysphagia. Tourette syndrome (TS) is an inherited neurological disorder that manifests itself as a series of motor and vocal tics and may include oropharyngeal dysphagia...
January 2017: Case Reports in Gastroenterology
https://www.readbyqxmd.com/read/28611376/allopregnanolone-mediates-the-exacerbation-of-tourette-like-responses-by-acute-stress-in-mouse-models
#7
Laura J Mosher, Sean C Godar, Marianela Nelson, Stephen C Fowler, Graziano Pinna, Marco Bortolato
Tourette syndrome (TS) is a neuropsychiatric disorder characterized by multiple tics and sensorimotor abnormalities, the severity of which is typically increased by stress. The neurobiological underpinnings of this exacerbation, however, remain elusive. We recently reported that spatial confinement (SC), a moderate environmental stressor, increases tic-like responses and elicits TS-like sensorimotor gating deficits in the D1CT-7 mouse, one of the best-validated models of TS. Here, we hypothesized that these adverse effects may be mediated by neurosteroids, given their well-documented role in stress-response orchestration...
June 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28608572/identification-of-candidate-genes-involved-in-the-etiology-of-sporadic-tourette-syndrome-by-exome-sequencing
#8
Yosuke Eriguchi, Hitoshi Kuwabara, Aya Inai, Yuki Kawakubo, Fumichika Nishimura, Chihiro Kakiuchi, Mamoru Tochigi, Jun Ohashi, Naoto Aoki, Kayoko Kato, Hiroyuki Ishiura, Jun Mitsui, Shoji Tsuji, Koichiro Doi, Jun Yoshimura, Shinichi Morishita, Takafumi Shimada, Masaomi Furukawa, Tadashi Umekage, Tsukasa Sasaki, Kiyoto Kasai, Yukiko Kano
Tourette Syndrome (TS) is a neurodevelopmental disorder characterized by chronic motor and vocal tics. Although there is a large genetic contribution, the genetic architecture of TS remains unclear. Exome sequencing has successfully revealed the contribution of de novo mutations in sporadic cases with neuropsychiatric disorders such as autism and schizophrenia. Here, using exome sequencing, we investigated de novo mutations in individuals with sporadic TS to identify novel risk loci and elucidate the genetic background of TS...
June 13, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28594134/many-genes-involved-in-tourette-syndrome-pathogenesis
#9
Roger L Albin
No abstract text is available yet for this article.
June 8, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28593598/brief-report-macrocephaly-phenotype-and-psychiatric-comorbidity-in-a-clinical-sample-of-mexican-children-and-adolescents-with-autism-spectrum-disorders
#10
Lilia Albores-Gallo, Laura Fritsche-García, Arturo Pabel Miranda-Aguirre, Montserrat Avila-Acosta
Autism spectrum disorders (ASD) may present with macrocephaly. Few studies have analyzed the association with psychiatric comorbidity. Participants were 94 children with any ASD with an age range from 2 to 16 years (Mdn 6 years), 82% were boys. It was found that 20% of the sample had macrocephaly and 1% microcephaly. There was no association between the presence of macrocephaly and subtype of ASD. The most associated comorbidity was attention-deficit/hyperactivity disorder (ADHD) 54.2%, followed by specific phobia 34%, dysthimia 29...
June 7, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28591394/charcot-s-famous-secretaries
#11
Hélio Afonso Ghizoni Teive, Francisco Manoel Branco Germiniani, Renato Puppi Munhoz, Olivier Walusinski
At the pinnacle of his career, Professor Charcot had four secretaries: Charles Féré, Pierre Marie, Georges Gilles de la Tourette and Georges Guinon. They helped the great founder of neurology with his activities at La Salpêtrière Hospital and his private clinic, examining patients before he made the final diagnosis.
May 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/28590521/seventy-years-with-the-globus-pallidus-pallidal-surgery-for-movement-disorders-between-1947-and-2017
#12
REVIEW
Laura Cif, Marwan Hariz
The year 2017 marks the 70th anniversary of the birth of human stereotactic neurosurgery. The first procedure was a pallidotomy for Huntington's disease. However, it was for Parkinson's disease that pallidotomy was soon adopted worldwide. Pallidotomy was abandoned in the late 1950s in favor of thalamotomy because of the latter's more striking effect on tremor. The advent of levodopa put a halt to all surgery for PD. In the mid-1980s, Laitinen reintroduced the posteroventral pallidotomy of Leksell, and this procedure spread worldwide thanks to its efficacy on most parkinsonian symptoms including levodopa-induced dyskinesias and thanks to basic scientific work confirming the role of the globus pallidus internus in the pathophysiology of PD...
June 7, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28588433/intragenic-cntnap2-deletions-a-bridge-too-far
#13
REVIEW
Martin Poot
Intragenic deletions of the contactin-associated protein-like 2 gene (CNTNAP2) have been found in patients with Gilles de la Tourette syndrome, intellectual disability (ID), obsessive compulsive disorder, cortical dysplasia-focal epilepsy syndrome, autism, schizophrenia, Pitt-Hopkins syndrome, stuttering, and attention deficit hyperactivity disorder. A variety of molecular mechanisms, such as loss of transcription factor binding sites and perturbation of penetrance and expressivity, have been proposed to account for the phenotypic variability resulting from CNTNAP2 mutations...
May 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28584117/histamine-modulation-of-the-basal-ganglia-circuitry-in-the-development-of-pathological-grooming
#14
Maximiliano Rapanelli, Luciana Frick, Haruhiko Bito, Christopher Pittenger
Aberrant histaminergic function has been proposed as a cause of tic disorders. A rare mutation in the enzyme that produces histamine (HA), histidine decarboxylase (HDC), has been identified in patients with Tourette syndrome (TS). Hdc knockout mice exhibit repetitive behavioral pathology and neurochemical characteristics of TS, establishing them as a plausible model of tic pathophysiology. Where, when, and how HA deficiency produces these effects has remained unclear: whether the contribution of HA deficiency to pathogenesis is acute or developmental, and where in the brain the relevant consequences of HA deficiency occur...
June 20, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28580294/gender-differences-in-the-structural-connectome-of-the-teenage-brain-revealed-by-generalized-q-sampling-mri
#15
Yeu-Sheng Tyan, Jan-Ray Liao, Chao-Yu Shen, Yu-Chieh Lin, Jun-Cheng Weng
The question of whether there are biological differences between male and female brains is a fraught one, and political positions and prior expectations seem to have a strong influence on the interpretation of scientific data in this field. This question is relevant to issues of gender differences in the prevalence of psychiatric conditions, including autism, attention deficit hyperactivity disorder (ADHD), Tourette's syndrome, schizophrenia, dyslexia, depression, and eating disorders. Understanding how gender influences vulnerability to these conditions is significant...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28579820/cannabis-and-intractable-chronic-pain-an-explorative-retrospective-analysis-of-italian-cohort-of-614-patients
#16
Guido Fanelli, Giuliano De Carolis, Claudio Leonardi, Adele Longobardi, Ennio Sarli, Massimo Allegri, Michael E Schatman
BACKGROUND: Despite growing interest in the therapeutic use of cannabis to manage chronic pain, only limited data that address these issues are available. In recent years, a number of nations have introduced specific laws to allow patients to use cannabis preparations to treat a variety of medical conditions. In 2015, the Italian government authorized the use of cannabis to treat several diseases, including chronic pain generally, spasticity in multiple sclerosis, cachexia and anorexia among AIDS and cancer patients, glaucoma, Tourette syndrome, and certain types of epilepsy...
2017: Journal of Pain Research
https://www.readbyqxmd.com/read/28579490/habituation-is-altered-in-neuropsychiatric-disorders-a-comprehensive-review-with-recommendations-for-experimental-design-and-analysis
#17
REVIEW
Troy A McDiarmid, Aram C Bernardos, Catharine H Rankin
Abnormalities in the simplest form of learning, habituation, have been reported in a variety of neuropsychiatric disorders as etiologically diverse as Autism Spectrum Disorder, Fragile X syndrome, Schizophrenia, Parkinson's Disease, Huntington's Disease, Attention Deficit Hyperactivity Disorder, Tourette's Syndrome, and Migraine. Here we provide the first comprehensive review of what is known about alterations in this form of non-associative learning in each disorder. Across several disorders, abnormal habituation is predictive of symptom severity, highlighting the clinical significance of habituation and its importance to normal cognitive function...
June 1, 2017: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/28578790/the-role-of-interneurons-in-autism-and-tourette-syndrome
#18
REVIEW
Maximiliano Rapanelli, Luciana Romina Frick, Christopher Pittenger
The brain includes multiple types of interconnected excitatory and inhibitory neurons that together allow us to move, think, feel, and interact with the environment. Inhibitory interneurons (INs) comprise a small, heterogeneous fraction, but they exert a powerful and tight control over neuronal activity and consequently modulate the magnitude of neuronal output and, ultimately, information processing. IN abnormalities are linked to two pediatric psychiatric disorders with high comorbidity: autism spectrum disorder (ASD) and Tourette syndrome (TS)...
May 31, 2017: Trends in Neurosciences
https://www.readbyqxmd.com/read/28578484/valbenazine-first-global-approval
#19
Esther S Kim
Valbenazine (Ingrezza™) is an orally bioavailable, selective, vesicular monoamine transporter 2 (VMAT2) inhibitor being developed by Neurocrine Biosciences for the treatment of various central nervous system disorders. Valbenazine has been approved in the USA for the treatment of adults with tardive dyskinesia (TD), is at various stages of development in other countries for TD and is in phase 2 development in the USA for Tourette syndrome. This article summarizes the milestones in the development of valbenazine leading to its first global approval in the USA for the treatment of adults with TD...
July 2017: Drugs
https://www.readbyqxmd.com/read/28574423/toward-a-multifactorial-conception-of-the-gilles-de-la-tourette-syndrome-and-persistent-chronic-tic-disorder
#20
EDITORIAL
Marc E Lavoie, Kieron O'Connor
Despite recent giant leaps in understanding Gilles de la Tourette's syndrome (now Tourette Disorder in the DSM 5), accurate multi-modal description, rigorous assessment procedures, and the improvement of evidence-based treatment currently pose a considerable challenge. In this context, the current special edition aims to elaborate three important dimensions in Tourette Disorder. Firstly, the effective characterization and etiological basis of the disorder are reviewed, since such characterization impacts accurate assessment...
June 2, 2017: Brain Sciences
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