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https://www.readbyqxmd.com/read/27920664/investigation-of-snp-rs2060546-immediately-upstream-to-ntn4-in-a-danish-gilles-de-la-tourette-syndrome-cohort
#1
Shanmukha S Padmanabhuni, Rayan Houssari, Ann-Louise Esserlind, Jes Olesen, Thomas M Werge, Thomas F Hansen, Birgitte Bertelsen, Fotis Tsetsos, Peristera Paschou, Zeynep Tümer
Gilles de la Tourette syndrome (GTS) is a neuropsychiatric disorder characterized by multiple motor and vocal tics. GTS is a complex disorder, with environmental factors and several genes involved. Although variations within a few genes such as AADAC, NRXN1, SLITRK1, HDC, and IMMP2L have been tentatively associated with GTS (in a small number of patients), the causative genes underlying GTS pathophysiology remain unknown. In a previous genome-wide association study (GWAS) a single nucleotide polymorphism (SNP, rs2060546) near the Netrin-4 (NTN4 - MIM 610401) gene was shown to be associated with GTS [odds ratio (OR) = 1...
2016: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/27917309/deutetrabenazine-in-tics-associated-with-tourette-syndrome
#2
Joseph Jankovic, Joohi Jimenez-Shahed, Cathy Budman, Barbara Coffey, Tanya Murphy, David Shprecher, David Stamler
BACKGROUND: Deutetrabenazine, an inhibitor of vesicular monoamine transporter type 2 (VMAT2) depletes presynaptic dopamine and is useful in the treatment of hyperkinetic movement disorders. This study explored the safety, tolerability, and preliminary efficacy of deutetrabenazine in adolescents with moderate-to-severe tics associated with Tourette syndrome (TS). METHODS: In this open-label study of 12-18-year-old patients with TS-related tics, deutetrabenazine was titrated up to 36 mg/day over 6 weeks to adequately suppress tics without bothersome adverse effects (AEs), followed by maintenance at optimal dose for 2 weeks...
2016: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/27909683/fronto-striatal-glutamate-in-children-with-tourette-s-disorder-and-attention-deficit-hyperactivity-disorder
#3
Jilly Naaijen, Natalie J Forde, David J Lythgoe, Sophie E A Akkermans, Thaira J C Openneer, Andrea Dietrich, Marcel P Zwiers, Pieter J Hoekstra, Jan K Buitelaar
OBJECTIVE: Both Tourette's disorder (TD) and attention-deficit/hyperactivity disorder (ADHD) have been related to abnormalities in glutamatergic neurochemistry in the fronto-striatal circuitry. TD and ADHD often co-occur and the neural underpinnings of this co-occurrence have been insufficiently investigated in prior studies. METHOD: We used proton magnetic resonance spectroscopy (1H-MRS) in children between 8 and 12 years of age (TD n = 15, ADHD n = 39, TD + ADHD n = 29, and healthy controls n = 53) as an in vivo method of evaluating glutamate concentrations in the fronto-striatal circuit...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/27900773/systematic-review-of-immunoglobulin-use-in-paediatric-neurological-and-neurodevelopmental-disorders
#4
REVIEW
Jonathan Gadian, Emma Kirk, Kate Holliday, Ming Lim, Michael Absoud
AIM: A systematic literature review of intravenous immunoglobulin (IVIG) treatment of paediatric neurological conditions was performed to summarize the evidence, provide recommendations, and suggest future research. METHOD: A MEDLINE search for articles reporting on IVIG treatment of paediatric neuroinflammatory, neurodevelopmental, and neurodegenerative conditions published before September 2015, excluding single case reports and those not in English. Owing to heterogeneous outcome measures, meta-analysis was not possible...
November 30, 2016: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/27900437/bdnf-and-ltp-ltd-like-plasticity-of-the-primary-motor-cortex-in-gilles-de-la-tourette-syndrome
#5
L Marsili, A Suppa, F Di Stasio, D Belvisi, N Upadhyay, I Berardelli, M Pasquini, S Petrucci, M Ginevrino, G Fabbrini, F Cardona, G Defazio, A Berardelli
Gilles de la Tourette syndrome (GTS) is characterized by motor and vocal tics and often associated with obsessive-compulsive disorder (OCD). Responses to intermittent/continuous theta-burst stimulation (iTBS/cTBS), which probe long-term potentiation (LTP)-/depression (LTD)-like plasticity in the primary motor cortex (M1), are reduced in GTS. ITBS-/cTBS-induced M1 plasticity can be affected by brain-derived neurotrophic factor (BDNF) polymorphism. We investigated whether the BDNF polymorphism influences iTBS-/cTBS-induced LTP-/LTD-like M1 plasticity in 50 GTS patients and in 50 age- and sex-matched healthy subjects...
November 30, 2016: Experimental Brain Research. Experimentelle Hirnforschung. Expérimentation Cérébrale
https://www.readbyqxmd.com/read/27891299/tourette-syndrome-and-comorbid-neuropsychiatric-conditions
#6
REVIEW
Ashutosh Kumar, William Trescher, Debra Byler
Tourette syndrome is a neuropsychiatric condition characterized by both motor and phonic tics over a period of at least 1 year with the onset in childhood or adolescence. Apart from the tics, most of the patients with Tourette syndrome have associated neuropsychiatric comorbidities consisting of attention deficit hyperactivity disorder, obsessive compulsive disorder, rage attacks, sleep issues, depression, and migraine. Patients may also have physical complications directly from violent motor tics which can rarely include cervical myelopathy, arterial dissection, and stroke...
2016: Current Developmental Disorders Reports
https://www.readbyqxmd.com/read/27891112/deep-brain-stimulation-for-tourette-s-syndrome-the-case-for-targeting-the-thalamic-centromedian-parafascicular-complex
#7
REVIEW
Paola Testini, Hoon-Ki Min, Asif Bashir, Kendall H Lee
Tourette's syndrome (TS) is a neurologic condition characterized by both motor and phonic tics and is typically associated with psychiatric comorbidities, including obsessive-compulsive disorder/behavior and attention-deficit hyperactivity disorder, and can be psychologically and socially debilitating. It is considered a disorder of the cortico-striato-thalamo-cortical circuitry, as suggested by pathophysiology studies and therapeutic options. Among these, deep brain stimulation (DBS) of the centromedian-parafascicular nucleus (CM-Pf) of the thalamus is emerging as a valuable treatment modality for patients affected by severe, treatment-resistant TS...
2016: Frontiers in Neurology
https://www.readbyqxmd.com/read/27886579/a-cytokine-study-of-pediatric-tourette-s-disorder-without-obsessive-compulsive-disorder
#8
Seung-Min Yeon, Ju Hyung Lee, Daewon Kang, Hyuna Bae, Ki Yong Lee, Seohoon Jin, Jung Ryul Kim, Yong Woo Jung, Tae Won Park
It has been suggested that post-infectious inflammation in central nervous system is a cause of tic disorder including Tourette's disorder (TD). Since pro-inflammatory cytokines are important mediators inducing inflammation, the cytokine levels are regarded as one of the important indicators of inflammation. Several studies have investigated the relationship of autoimmunity and the pathogenesis of TD by measuring the inflammatory cytokine levels of blood. However, when using human samples, the experimental results can be affected by the factors like size of sample, comorbidity, medication that patients take and the severity of the diseases...
November 10, 2016: Psychiatry Research
https://www.readbyqxmd.com/read/27883923/gilles-de-la-tourette-syndrome-is-associated-with-hypermethylation-of-the-dopamine-d2-receptor-gene
#9
Kirsten R Müller-Vahl, Gesa Loeber, Alexandra Kotsiari, Linda Müller-Engling, Helge Frieling
Several lines of evidence support a "dopaminergic hypothesis" in the pathophysiology of Gilles de la Tourette syndrome (TS). The aim of this study was to investigate for the first time epigenetic changes in DNA methylation in different dopamine genes in adult patients with TS. We included 51 well characterized adult patients with TS (41 males, 10 females, mean age = 35 ± 12.6 years, range, 18-71 years) and compared results with data from a group of 51 sex- and age-matched healthy controls. Bisulfite sequencing was used to measure peripheral DNA methylation of the dopamine transporter (DAT), the dopamine D2 receptor (DRD2), and the catechol-O-methyltransferase (COMT) genes...
November 12, 2016: Journal of Psychiatric Research
https://www.readbyqxmd.com/read/27864156/neurocognitive-predictors-of-treatment-response-to-randomized-treatment-in-adults-with-tic-disorders
#10
Amitai Abramovitch, Lauren S Hallion, Hannah E Reese, Douglas W Woods, Alan Peterson, John T Walkup, John Piacentini, Lawrence Scahill, Thilo Deckersbach, Sabine Wilhelm
Tourette's disorder (TS) and chronic tic disorder (CTD) are neurodevelopmental disorders characterized by involuntary vocal and motor tics. Consequently, TS/CTD have been conceptualized as disorders of cognitive and motor inhibitory control. However, most neurocognitive studies have found comparable or superior inhibitory capacity among individuals with TS/CTD relative to healthy controls. These findings have led to the hypothesis that individuals with TS/CTD develop increased inhibitory control due to the constant need to inhibit tics...
November 15, 2016: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/27853509/visit-ts-version-2-a-multimedia-tool-for-population-studies-on-tic-disorders
#11
M Jonathan Vachon, Catherine W Striley, Mollie R Gordon, Miriam L Schroeder, Emily C Bihun, Jonathan M Koller, Kevin J Black
Population-based assessment of Tourette syndrome (TS) and other tic disorders produces a paradox. On one hand, ideally diagnosis of tic disorders requires expert observation. In fact, diagnostic criteria for TS explicitly require expert assessment of tics for a definite diagnosis. On the other hand, large-scale population surveys with expert assessment of every subject are impracticable. True, several published studies have successfully used expert assessment to find tic prevalence in a representative population (e...
2016: F1000Research
https://www.readbyqxmd.com/read/27825787/-i-swear-it-is-tourette-s-on-functional-coprolalia-and-other-tic-like-vocalizations
#12
Christos Ganos, Mark J Edwards, Kirsten Müller-Vahl
Coprolalia in neuropsychiatry is typically associated with tic disorders, in particular Gilles de la Tourette syndrome. To date, there has been no report of functional coprolalia. Here, we provide the clinical characteristics of 13 adolescent and adult patients with coprolalic and other functional tic-like complex vocalizations who, on the basis of these symptoms, were misdiagnosed with a primary tic disorder, most commonly Gilles de la Tourette syndrome. We describe similarities and highlight the differences from primary tic disorders in order to provide a pragmatic list of clinical clues that will facilitate correct diagnostic labeling and thereby treatment...
October 17, 2016: Psychiatry Research
https://www.readbyqxmd.com/read/27819145/dopamine-depleters-in-the-treatment-of-hyperkinetic-movement-disorders
#13
Joseph Jankovic
Abnormal involuntary movements often improve in response to anti-dopaminergic drugs. In contrast to classic neuroleptics that block dopamine receptors, drugs that deplete presynaptic dopamine by blocking vesicular monoamine transporter type 2 (VMAT2) seem to be safer and have little or no risk of tardive dyskinesia. This is one reason why there has been a recent emergence of novel VMAT2 inhibitors. Areas Covered: Since the approval of tetrabenazine, the classic VMAT2 inhibitor, in the treatment of chorea associated with Huntington disease (HD), other VMAT2 inhibitors (e...
November 6, 2016: Expert Opinion on Pharmacotherapy
https://www.readbyqxmd.com/read/27809572/identification-of-two-heritable-cross-disorder-endophenotypes-for-tourette-syndrome
#14
Sabrina M Darrow, Matthew E Hirschtritt, Lea K Davis, Cornelia Illmann, Lisa Osiecki, Marco Grados, Paul Sandor, Yves Dion, Robert King, David Pauls, Cathy L Budman, Danielle C Cath, Erica Greenberg, Gholson J Lyon, Dongmei Yu, Lauren M McGrath, William M McMahon, Paul C Lee, Kevin L Delucchi, Jeremiah M Scharf, Carol A Mathews
OBJECTIVE: Phenotypic heterogeneity in Tourette syndrome is partly due to complex genetic relationships among Tourette syndrome, obsessive-compulsive disorder (OCD), and attention deficit hyperactivity disorder (ADHD). Identifying symptom-based endophenotypes across diagnoses may aid gene-finding efforts. METHOD: Assessments for Tourette syndrome, OCD, and ADHD symptoms were conducted in a discovery sample of 3,494 individuals recruited for genetic studies. Symptom-level factor and latent class analyses were conducted in Tourette syndrome families and replicated in an independent sample of 882 individuals...
November 4, 2016: American Journal of Psychiatry
https://www.readbyqxmd.com/read/27783238/putting-the-pieces-together-in-gilles-de-la-tourette-syndrome-exploring-the-link-between-clinical-observations-and-the-biological-basis-of-dysfunction
#15
REVIEW
Rowshanak Hashemiyoon, Jens Kuhn, Veerle Visser-Vandewalle
Gilles de la Tourette syndrome is a complex, idiopathic neuropsychiatric disorder whose pathophysiological mechanisms have yet to be elucidated. It is phenotypically heterogeneous and manifests more often than not with both motor and behavioral impairment, although tics are its clinical hallmark. Tics themselves present with a complex profile as they characteristically wax and wane and are often preceded by premonitory somatosensory sensations to which it is said a tic is the response. Highly comorbid with obsessive-compulsive disorder and attention deficit-hyperactivity disorder, it is purported to be an epigenetic, neurodevelopmental spectrum disorder with a complex genetic profile...
October 25, 2016: Brain Topography
https://www.readbyqxmd.com/read/27777415/brain-structure-in-pediatric-tourette-syndrome
#16
D J Greene, A C Williams Iii, J M Koller, B L Schlaggar, K J Black
Previous studies of brain structure in Tourette syndrome (TS) have produced mixed results, and most had modest sample sizes. In the present multicenter study, we used structural magnetic resonance imaging (MRI) to compare 103 children and adolescents with TS to a well-matched group of 103 children without tics. We applied voxel-based morphometry methods to test gray matter (GM) and white matter (WM) volume differences between diagnostic groups, accounting for MRI scanner and sequence, age, sex and total GM+WM volume...
October 25, 2016: Molecular Psychiatry
https://www.readbyqxmd.com/read/27776574/empathy-and-aversion-the-neural-signature-of-mentalizing-in-tourette-syndrome
#17
C M Eddy, A E Cavanna, P C Hansen
BACKGROUND: Previous studies suggest that adults with Tourette syndrome (TS) can respond unconventionally on tasks involving social cognition. We therefore hypothesized that these patients would exhibit different neural responses to healthy controls in response to emotionally salient expressions of human eyes. METHOD: Twenty-five adults with TS and 25 matched healthy controls were scanned using fMRI during the standard version of the Reading the Mind in the Eyes Task which requires mental state judgements, and a novel comparison version requiring judgements about age...
October 25, 2016: Psychological Medicine
https://www.readbyqxmd.com/read/27773353/suicide-in-tourette-s-and-chronic-tic-disorders
#18
Lorena Fernández de la Cruz, Mina Rydell, Bo Runeson, Gustaf Brander, Christian Rück, Brian M D'Onofrio, Henrik Larsson, Paul Lichtenstein, David Mataix-Cols
BACKGROUND: Persons with neuropsychiatric disorders are at increased risk of suicide, but there is little data concerning Tourette's and chronic tic disorders (TD/CTD). We aimed to quantify the risk of suicidal behavior in a large nationwide cohort of patients with TD/CTD, establish the contribution of psychiatric comorbidity to this risk, and identify predictors of suicide. METHODS: Using a validated algorithm, we identified 7736 TD/CTD cases in the Swedish National Patient Register during a 44-year period (1969-2013)...
August 26, 2016: Biological Psychiatry
https://www.readbyqxmd.com/read/27746910/deep-brain-stimulation-in-gilles-de-la-tourette-syndrome-killing-several-birds-with-one-stone
#19
Andreas Hartmann
In patients with severe, treatment-refractory Gilles de la Tourette syndrome (GTS), deep brain stimulation (DBS) of various targets has been increasingly explored over the past 15 years. The multiplicity of surgical targets is intriguing and may be partly due to the complexity of GTS, specifically the various and frequent associated psychiatric comorbidities in this disorder. Thus, the target choice may not only be aimed at reducing tics but also comorbidities. While this approach is laudable, it also carries the risk to increase confounding factors in DBS trials and patient evaluation...
2016: F1000Research
https://www.readbyqxmd.com/read/27743746/decreased-anterior-cingulate-cortex-%C3%AE-aminobutyric-acid-in-youth-with-tourette-s-disorder
#20
Rachel D Freed, Barbara J Coffey, Xiangling Mao, Nora Weiduschat, Guoxin Kang, Dikoma C Shungu, Vilma Gabbay
BACKGROUND: γ-Aminobutyric acid has been implicated in the pathophysiology of Tourette's disorder. The present study primarily sought to examine in vivo γ-aminobutyric acid levels in the anterior cingulate cortex in psychotropic medication-free adolescents and young adults. Secondarily, we sought to determine associations between γ-aminobutyric acid in the anterior cingulate cortex and measures of tic severity, tic-related impairment, and anxiety and depression symptoms. METHODS: γ-Aminobutyric acid levels were measured using proton magnetic resonance spectroscopy...
December 2016: Pediatric Neurology
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