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https://www.readbyqxmd.com/read/27932244/transcriptional-response-to-mitochondrial-protease-immp2l-knockdown-in-human-primary-astrocytes
#1
Akira Gokoolparsadh, Zhiming Fang, Nady Braidy, Peijie Lin, Christopher J Pardy, Valsamma Eapen, Raymond Clarke, Irina Voineagu
IMMP2L encodes the inner membrane peptidase subunit 2, a mitochondrial protease involved in cleaving the space-sorting signals of mitochondrial membrane proteins. IMMP2L has been implicated in Tourette syndrome, but how its dysfunction contributes to the neurodevelopmental phenotype remains unclear. Here we show that IMMP2L transcription requires Topoisomerase I in human primary astrocytes, and characterize the downstream effects of IMMP2L knockdown on gene expression. We demonstrate that IMMP2L knockdown leads to dysregulation of genes involved in central nervous system development...
December 5, 2016: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/27920671/proceedings-of-the-fourth-annual-deep-brain-stimulation-think-tank-a-review-of-emerging-issues-and-technologies
#2
Wissam Deeb, James J Giordano, Peter J Rossi, Alon Y Mogilner, Aysegul Gunduz, Jack W Judy, Bryan T Klassen, Christopher R Butson, Craig Van Horne, Damiaan Deny, Darin D Dougherty, David Rowell, Greg A Gerhardt, Gwenn S Smith, Francisco A Ponce, Harrison C Walker, Helen M Bronte-Stewart, Helen S Mayberg, Howard J Chizeck, Jean-Philippe Langevin, Jens Volkmann, Jill L Ostrem, Jonathan B Shute, Joohi Jimenez-Shahed, Kelly D Foote, Aparna Wagle Shukla, Marvin A Rossi, Michael Oh, Michael Pourfar, Paul B Rosenberg, Peter A Silburn, Coralie de Hemptine, Philip A Starr, Timothy Denison, Umer Akbar, Warren M Grill, Michael S Okun
This paper provides an overview of current progress in the technological advances and the use of deep brain stimulation (DBS) to treat neurological and neuropsychiatric disorders, as presented by participants of the Fourth Annual DBS Think Tank, which was convened in March 2016 in conjunction with the Center for Movement Disorders and Neurorestoration at the University of Florida, Gainesveille FL, USA. The Think Tank discussions first focused on policy and advocacy in DBS research and clinical practice, formation of registries, and issues involving the use of DBS in the treatment of Tourette Syndrome...
2016: Frontiers in Integrative Neuroscience
https://www.readbyqxmd.com/read/27920664/investigation-of-snp-rs2060546-immediately-upstream-to-ntn4-in-a-danish-gilles-de-la-tourette-syndrome-cohort
#3
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
#4
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/27911302/association-between-cognitive-status-before-surgery-and-outcomes-in-elderly-patients-with-hip-fracture-in-a-dedicated-orthogeriatric-care-pathway
#5
Lorene Zerah, Judith Cohen-Bittan, Mathieu Raux, Anthony Meziere, Cendrine Tourette, Christian Neri, Marc Verny, Bruno Riou, Frederic Khiami, Jacques Boddaert
BACKGROUND: Dementia is associated with a worse prognosis of hip fracture, but the impact of a dedicated geriatric care pathway on the prognosis of these patients has not been evaluated. OBJECTIVE: According to the cognitive status before surgery, our main objective was to compare mortality rate at 6 months; secondary outcomes were to compare in-hospital complications, the risk of new institutionalization, and the ability to walk at 6 months. METHODS: Between 2009 and 2015, all patients (>70 years) admitted after hip fracture surgery into a dedicated unit of peri-operative geriatric care were included: patients with dementia (DP), without dementia (NDP), and with cognitive status not determined (CSND)...
November 28, 2016: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/27909683/fronto-striatal-glutamate-in-children-with-tourette-s-disorder-and-attention-deficit-hyperactivity-disorder
#6
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/27903096/pregabalin-in-tourette-s-syndrome-a-case-series
#7
Marius Hienert, Ana Weidenauer, Christoph Kraus, Matthaeus Willeit, Siegfried Kasper, Mara Stamenkovic
No abstract text is available yet for this article.
December 1, 2016: American Journal of Psychiatry
https://www.readbyqxmd.com/read/27900773/systematic-review-of-immunoglobulin-use-in-paediatric-neurological-and-neurodevelopmental-disorders
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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/27881066/new-insights-emerging-from-recent-investigations-on-human-group-ii-pyridoxal-5-phosphate-decarboxylases
#14
Alessandro Paiardini, Giorgio Giardina, Giada Rossignoli, Carla Borri Voltattorni, Mariarita Bertoldi
Aromatic amino acid, cysteine sulfinic acid, glutamate and histidine decarboxylases, belonging to group II of pyridoxal 5'-phosphate-dependent enzymes, catalyze the synthesis of dopamine/serotonin, hypotaurine, ϒ-aminobutyric acid and histamine, respectively. Considering that these reaction's products are all essential bioactive molecules, group II decarboxylases have been long studied from an evolutionary, biochemical and pharmacological standpoint. Despite the fact that they all belong to a common fold-type, during evolution each decarboxylase has evolved unique structural elements responsible for its substrate specificity...
November 22, 2016: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/27864156/neurocognitive-predictors-of-treatment-response-to-randomized-treatment-in-adults-with-tic-disorders
#15
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/27862604/whole-genome-sequencing-of-cytogenetically-balanced-chromosome-translocations-identifies-potentially-pathological-gene-disruptions-and-highlights-the-importance-of-microhomology-in-the-mechanism-of-formation
#16
Daniel Nilsson, Maria Pettersson, Peter Gustavsson, Alisa Förster, Wolfgang Hofmeister, Josephine Wincent, Vasilios Zachariadis, Britt-Marie Anderlid, Ann Nordgren, Outi Mäkitie, Valtteri Wirta, Max Käller, Francesco Vezzi, James R Lupski, Magnus Nordenskjöld, Elisabeth Syk Lundberg, Claudia M B Carvalho, Anna Lindstrand
Most balanced translocations are thought to result mechanistically from nonhomologous end joining or, in rare cases of recurrent events, by nonallelic homologous recombination. Here, we use low-coverage mate pair whole-genome sequencing to fine map rearrangement breakpoint junctions in both phenotypically normal and affected translocation carriers. In total, 46 junctions from 22 carriers of balanced translocations were characterized. Genes were disrupted in 48% of the breakpoints; recessive genes in four normal carriers and known dominant intellectual disability genes in three affected carriers...
November 16, 2016: Human Mutation
https://www.readbyqxmd.com/read/27862303/basal-ganglia-structure-in-tourette-s-disorder-and-or-attention-deficit-hyperactivity-disorder
#17
Natalie J Forde, Marcel P Zwiers, Jilly Naaijen, Sophie E A Akkermans, Thaira J C Openneer, Frank Visscher, Andrea Dietrich, Jan K Buitelaar, Pieter J Hoekstra
BACKGROUND: Tourette's disorder and attention-deficit/hyperactivity disorder often co-occur and have both been associated with structural variation of the basal ganglia. However, findings are inconsistent and comorbidity is often neglected. METHODS: T1-weighted magnetic resonance images from children (n = 141, 8 to 12 years) with Tourette's disorder and/or attention-deficit/hyperactivity disorder and controls were processed with the Oxford Centre for Functional MRI [Magnetic resonance imaging] of the Brain (FMRIB) integrated registration and segmentation tool to determine basal ganglia nuclei volume and shape...
November 10, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/27853509/visit-ts-version-2-a-multimedia-tool-for-population-studies-on-tic-disorders
#18
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/27845777/newer-insights-into-the-role-of-mirna-a-tiny-genetic-tool-in-psychiatric-disorders-focus-on-post-traumatic-stress-disorder
#19
REVIEW
V V Giridharan, R A Thandavarayan, G R Fries, C Walss-Bass, T Barichello, N J Justice, M K Reddy, J Quevedo
Post-traumatic stress disorder (PTSD) is a mental disorder occurring in about 2-9% of individuals after their exposure to life-threatening events, such as severe accidents, sexual abuse, combat or a natural catastrophe. Because PTSD patients are exposed to trauma, it is likely that epigenetic modifications have an important role in disease development and prognosis. For the past two decades, abnormal expression of the epigenetic regulators microRNAs (miRs) and miR-mediated gene regulation have been given importance in a variety of human diseases, such as cancer, heart disease and viral infection...
November 15, 2016: Translational Psychiatry
https://www.readbyqxmd.com/read/27825787/-i-swear-it-is-tourette-s-on-functional-coprolalia-and-other-tic-like-vocalizations
#20
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
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