Advances in the Neurochemistry and Neuropharmacology of Tourette Syndrome PDF
Preview Advances in the Neurochemistry and Neuropharmacology of Tourette Syndrome
INTERNATIONAL REVIEW OF NEUROBIOLOGY VOLUME112 SERIES EDITORS R. ADRON HARRIS WaggonerCenterforAlcohol andDrugAddictionResearch The University of Texas at Austin Austin, Texas, USA PETER JENNER Division of Pharmacology and Therapeutics GKT School of Biomedical Sciences King's College, London, UK EDITORIAL BOARD ERICAAMODT HUDAAKIL PHILIPPEASCHER MATTHEWJ.DURING DONARDS.DWYER DAVIDFINK MARTINGIURFA BARRYHALLIWELL PAULGREENGARD JONKAAS NOBUHATTORI LEAHKRUBITZER DARCYKELLEY KEVINMCNAUGHT BEAULOTTO JOSÉA.OBESO MICAELAMORELLI CATHYJ.PRICE JUDITHPRATT SOLOMONH.SNYDER EVANSNYDER STEPHENG.WAXMAN JOHNWADDINGTON AcademicPressisanimprintofElsevier 32JamestownRoad,LondonNW17BY,UK Radarweg29,POBox211,1000AEAmsterdam,TheNetherlands TheBoulevard,LangfordLane,Kidlington,Oxford,OX51GB,UK 225WymanStreet,Waltham,MA02451,USA 525BStreet,Suite1800,SanDiego,CA92101-4495,USA Firstedition2013 Copyright©2013,ElsevierInc.AllRightsReserved Nopartofthispublicationmaybereproduced,storedinaretrievalsystem ortransmittedinanyformorbyanymeanselectronic,mechanical,photocopying, recordingorotherwisewithoutthepriorwrittenpermissionofthepublisher PermissionsmaybesoughtdirectlyfromElsevier’sScience&TechnologyRights DepartmentinOxford,UK:phone(þ44)(0)1865843830;fax(þ44)(0)1865853333; email:permissions@elsevier.com.Alternativelyyoucansubmityourrequestonline byvisitingtheElsevierwebsiteathttp://elsevier.com/locate/permissions,andselecting ObtainingpermissiontouseElseviermaterial Notice Noresponsibilityisassumedbythepublisherforanyinjuryand/ordamagetopersons orpropertyasamatterofproductsliability,negligenceorotherwise,orfromanyuse oroperationofanymethods,products,instructionsorideascontainedinthematerial herein.Becauseofrapidadvancesinthemedicalsciences,inparticular,independent verificationofdiagnosesanddrugdosagesshouldbemade ISBN:978-0-12-411546-0 ISSN:0074-7742 ForinformationonallAcademicPresspublications visitourwebsiteatstore.elsevier.com PrintedandboundinUSA 13 14 15 16 11 10 9 8 7 6 5 4 3 2 1 CONTRIBUTORS UmbertoBalottin DepartmentofChildNeurologyandPsychiatry,IRCCS“C.Mondino”Foundation, UniversityofPavia,Pavia,Italy JudithBuse DepartmentofChildandAdolescentPsychiatry,UniversityMedicalCenter,Technische Univerita¨tDresden,Dresden,Germany FrancescoCardona DepartmentofPediatricsandChildNeuropsychiatry,SapienzaUniversityofRome,Rome, Italy AndreaE.Cavanna MichaelTrimbleNeuropsychiatryResearchGroup,DepartmentofNeuropsychiatry, BSMHFTandUniversityofBirmingham,Birmingham;SchoolofLifeandHealthSciences, AstonUniversity,Birmingham,andSobellDepartmentofMotorNeuroscienceand MovementDisorders,UCLandInstituteofNeurology,London,UnitedKingdom StefanEhrlich DepartmentofChildandAdolescentPsychiatry,UniversityMedicalCenter,Technische Univerita¨tDresden,Dresden,Germany ThomasV.Fernandez ChildStudyCenter,YaleUniversitySchoolofMedicine,NewHaven,Connecticut,USA MariangelaGulisano DepartmentofMedicalandPediatricSciences,CataniaUniversity,Catania,Italy AndreasHartmann CentredeRe´fe´renceNationalMaladieRare:‘SyndromeGillesdelaTourette’,De´partement deNeurologie,PoˆledesMaladiesduSyste`meNerveux,andCentredeRecherchede l’InstitutduCerveauetdelaMoelleEpinie`re,UPMC/INSERMUMR_S975;CNRS UMR7225,Paris,France GaryA.Heiman RutgersUniversity,DepartmentofGenetics,Piscataway,NewJersey,USA BastianHengerer BoehringerIngelheimPharmaGmbH&Co.KG,CNSResearch,BiberachanderRiss, Germany PieterJ.Hoekstra DepartmentofPsychiatry,UniversityMedicalCenterGroningen,UniversityofGroningen, Groningen,TheNetherlands MasakiIsoda DepartmentofPhysiology,KansaiMedicalUniversitySchoolofMedicine,Hirakata,Osaka, Japan xi xii Contributors GiovanniLaviola SectionofBehaviouralNeuroscience,DepartmentCellBiologyandNeuroscience,Istituto SuperiorediSanita`,Roma,Italy JamesF.Leckman ChildStudyCenter,YaleUniversity,NewHaven,Connecticut,USA AndreaG.Ludolph DepartmentofChildandAdolescentPsychiatry,UniversityofUlm,Ulm,Germany AntonellaMacerollo SobellDepartmentofMotorNeuroscienceandMovementDisorders,NationalHospitalof NeurologyandNeurosurgery,InstituteofNeurology,UniversityCollegeLondon,London, UnitedKingdom SimoneMacr`ı SectionofBehaviouralNeuroscience,DepartmentCellBiologyandNeuroscience,Istituto SuperiorediSanita`,Roma,Italy NamrataMadhusudan DepartmentofNeuropsychiatry,UniversityofBirminghamandBSMHFT,Birmingham, UnitedKingdom MarcosMadruga-Garrido Seccio´ndeNeuropediatr´ıa,InstitutodeBiomedicinadeSevilla,HospitalUniversitario VirgendelRoc´ıo/UniversidaddeSevilla,Sevilla,Spain DavideMartino QueenElizabethHospital,Woolwich;CentreforNeuroscienceandTrauma,QueenMary UniversityofLondon,andKing’sCollegeHospital,London,UnitedKingdom KevinW.McCairn SystemsNeuroscienceDivision,PrimateResearchInstitute,KyotoUniversity,Inuyama, Aichi,Japan PabloMir UnidaddeTrastornosdelMovimiento,ServiciodeNeurolog´ıayNeurofisiolog´ıaCl´ınica, InstitutodeBiomedicinadeSevilla,HospitalUniversitarioVirgendelRoc´ıo/CSIC/ UniversidaddeSevilla,andCentrodeInvestigacio´nBiome´dicaenRedsobreEnfermedades Neurodegenerativas(CIBERNED),Sevilla,Spain SabineMogwitz DepartmentofChildandAdolescentPsychiatry,UniversityMedicalCenter,Technische Univerita¨tDresden,Dresden,Germany AndreaNani MichaelTrimbleNeuropsychiatryResearchGroup,BSMHFTandUniversityof Birmingham,Birmingham,UnitedKingdom ValeriaNeri DepartmentofPediatricsandChildNeuropsychiatry,SapienzaUniversityofRome,Rome, Italy Contributors xiii EsterNespoli DepartmentofChildandAdolescentPsychiatry,UniversityofUlm,Ulm,andBoehringer IngelheimPharmaGmbH&Co.KG,CNSResearch,BiberachanderRiss,Germany IreneNeuner InstituteofNeuroscienceandMedicine4,INM4,ForschungszentrumJu¨lichGmBH, Juelich;DepartmentofPsychiatry,PsychotherapyandPsychosomatics,RWTHAachen University,Aachen,andJARA—TranslationalBrainMedicine,Germany MartinaProiettiOnori SectionofBehaviouralNeuroscience,DepartmentCellBiologyandNeuroscience,Istituto SuperiorediSanita`,Roma,Italy StefanoPalminteri LaboratoiredesNeurosciencesCognitives(LNC),EcoleNormaleSupe`rieure(ENS),Paris, France PeristeraPaschou DepartmentofMolecularBiologyandGenetics,DemocritusUniversityofThrace, Alexandroupoli,Greece MathiasPessiglione MotivationBrainandBehaviourTeam(MBB),InstitutduCerveauetdelaMoelle(ICM), Paris,France FrancescaRizzo DepartmentofChildandAdolescentPsychiatry,andInstituteofAnatomyandCellBiology, UniversityofUlm,Ulm,Germany RenataRizzo DepartmentofMedicalandPediatricSciences,CataniaUniversity,Catania,Italy VeitRoessner DepartmentofChildandAdolescentPsychiatry,TechnicalUniversityDresden,Dresden, Germany GiorgioRossi ChildNeuropsychiatryUnit,DepartmentofExperimentalMedicine,UniversityofInsubria, Varese,Italy FrankSchneider DepartmentofPsychiatry,PsychotherapyandPsychosomatics,RWTHAachenUniversity, Aachen,andJARA—TranslationalBrainMedicine,Germany Ba`rbaraSegura ResearchImagingCentre,CentreforAddictionandMentalHealth,UniversityofToronto, Ontario,Canada,andDepartmentofPsychiatryandClinicalPsychobiology,Universityof Barcelona,Barcelona,Spain ClaudiaSelvini ChildNeuropsychiatryUnit,DepartmentofExperimentalMedicine,UniversityofInsubria, Varese,Italy xiv Contributors N.JonShah InstituteofNeuroscienceandMedicine4,INM4,ForschungszentrumJu¨lichGmBH, Juelich;JARA—TranslationalBrainMedicine,andDepartmentofNeurology,RWTH AachenUniversity,Aachen,Germany FrankSharp DepartmentofNeurologyandMINDInstitute,UniversityofCaliforniaatDavis, Sacramento,California,USA AntonioP.Strafella ResearchImagingCentre,CentreforAddictionandMentalHealth;MortonandGloria ShulmanMovementDisorderUnit&E.J.SafraParkinsonDiseaseProgram,andDivisionof Brain,ImagingandBehaviour—SystemsNeuroscience,TorontoWesternResearch Institute,UHN,UniversityofToronto,Ontario,Canada CristianoTermine ChildNeuropsychiatryUnit,DepartmentofExperimentalMedicine,UniversityofInsubria, Varese,Italy PatrickT.Udvardi DepartmentofChildandAdolescentPsychiatry,andInstituteofAnatomyandCellBiology, UniversityofUlm,Ulm,Germany PanagiotisZis King’sCollegeHospital,London,UnitedKingdom PREFACE The Metamorphoses of Gilles de la Tourette Syndrome Few medical conditions have gone through as many transformation as the “maladiedestics”sinceGeorgesGillesdelaTourette’soriginaldescription of nine patients who presented with involuntary movements, echolalia, echopraxia, coprolalia, and strange uncontrollable sounds (Gilles de la Tourette, 1885). These symptoms, which were subsequently identified as motor tics, tendencies to repeat or copy other people’s words and actions, involuntary swearing, and vocal/phonic tics, became the hallmark features ofafascinatingneurodevelopmentaldisorderattheinterfacebetweenneu- rologyandpsychiatry.ItcanbearguedthatourconceptualizationofGilles de la Tourette syndrome (often abbreviated as “Tourette syndrome” or “TS,” especially in the Anglo-Saxon literature) went through at least four crucial“paradigmshifts”(Kuhn,1962)throughoutitsfirst128yearsofhis- tory (McNaught & Mink, 2011). ThefirstconceptualshiftinvolvedGillesdelaTourettesyndrome(GTS) core symptoms, as the chronic presence of both motor and vocal/phonic tics, with onset in childhood or adolescence, became the key criterion for the diagnosis of this condition since the development of modern era diag- nostic classification schemes. Both the Diagnostic and Statistical Manual of MentalDisorders(AmericanPsychiatricAssociation,2013)andtheInterna- tional Classification of Diseases (World Health Organization, 1992) cur- rently stipulate that these clinical features, when they are not caused by underlyingbrainpathologiesoractivesubstances,arerequiredforthediag- nosis of GTS, regardless of their severity. The very concept of tics under- went refinement until very recently, as for instance the adjective “stereotypic” was removed from the traditional definition of “sudden, repetitive, nonrhythmic movements or vocalizations.” Moreover, it has been increasingly recognized that tics represent the behavioral response to unwanted, irresistible premonitory urges, which can be of crucial impor- tance for the differential diagnosis between tics and other hyperkinetic movement disorders (Cath et al., 2011), and for the success of behavioral interventions for tic management (Frank & Cavanna, 2013). Interestingly, complex tics such as echo- and coprophenomena, albeit pathognomonic, are no longer considered to be essential criteria for the diagnosis of GTS. xv xvi Preface Theprogressivemodificationsindiagnosticcriteriaplayedanimportantrole inthesecondparadigmshift,asthissyndromewentfrombeingconsidereda somewhat bizarre medical rarity to a relatively common variant of normal human behavior, with an estimated prevalence as high as 0.3–1% in school-age populations (Robertson, Eapen, & Cavanna, 2009; Scharf, Miller,Mathews,&BenSchlomo,2012).Thethirdparadigmshiftreflected the increased awareness that tics are accompanied by specific behavioral symptoms (especially attention deficit, hyperactivity, compulsions, and obsessions) in the vast majority of patients (Cavanna & Rickards, 2013). ItisthereforenotsurprisingthatGTSfeaturesinbothneurologicalandpsy- chiatric classification systems. The most significant paradigm shift was the discoveryofthegeneticandneurobiologicalbasesofthiscondition,which resulted in a significant change in the general attitude toward patients with tic disorders. As a consequence, the neuroscientific paradigm gradually but relentlesslyreplacedprevioustheoriesonthepsychologicaloriginofticsand tic-related symptoms (Germiniani, Miranda, Ferenczy, Munhoz, & Teive, 2012).Whileitisstillacknowledgedthatbothminorlifeevents(Steinberg, Shmuel-Baruch, Horesh, & Apter, 2013) and their emotional reactions (Conelea & Woods,2008) can have a considerable impact on themodula- tion of tic expression, the neurobiological bases of GTS are currently the main focus of research efforts and inform therapeutic approaches (Cavanna, Kavanagh, & Robertson, 2013). This issue of International Reviews in Neurobiology is devoted to the most recent Advances in the Neurochemistry and Neuropharmacology of Tourette Syn- drome,inordertoprovidebothresearchersandclinicianswithacomprehen- sive and up-to-date overview on this rapidly expanding field. The present volume opens with two introductory chapters. In the first, we give a necessary overview on the clinical phenomenology of GTS, including recent studies using statistical techniques such as factor analysis and hierar- chical cluster analysis to identify the multiplephenotypes of thesyndrome. This is followed by a comprehensive review by Neuner et al. on the brain structural and functional alterations that have been associated with GTS. After these two introductory chapters, the volume offers a detailed overview of the pathobiology of neurotransmitter systems in this condition. A large body of evidence dissected the complex neurochemistry ofGTS,depictingitasa“network”disorderinvolvingdifferentneurotrans- mitters along the course of brain maturation. It is not surprising that the complexity of the neurochemical basis of GTS parallels that of its phenom- enological conundrum presented in the first chapter. The involvement of Preface xvii cortico-striato-thalamo-cortical circuits, with concurrent abnormalities of dopaminergic, serotoninergic, noradrenergic, glutamatergic, and gamma- aminobutyric acid (GABA)-ergic systems, is now undisputed. As for the majority of neuropsychiatric disorders, functional imaging, and mainly nuclear medicine techniques employing radioligands for proteins associated withneurotransmitter systems, allowedthenoninvasiveexploration ofthese neurotransmittersalsoinGTS.SeguraandStrafellareviewedtheevidenceof functionalimaging researchon dopaminergic transmission in this condition, showing how the dysfunction of dopaminergic transmission may extend beyond the segregated cortico-striato-thalamo-cortical loops, in line with the breadth of the behavioral and cognitive spectrum exhibited by these patients. In her chapter, Ludolph confirms the multiple neurotransmitter “nature” of TS and summarizes the available functional imaging evidence in support of this. Thehighrelevanceofdopaminergicdysfunctiontothecorepathophys- iology of tics and related behavioral anomalies has been recently explored through a cognitive approach, based on the analysis of decision-making and reinforcement learning processes. Often this approach has utilized the samedopaminereceptor-modulatingagentsusedtocontrolticsintheclinic. PalminteriandPessiglioneelaborateonthisnovelareaofcognitiveresearch inthestudyofGTS,whichhasveryimportantimplicationsfor bothphar- macological and cognitive–behavioral management of tics. Despite the high frequency of familial occurrence of GTS, the classical, “past generation,” genetic linkage approach has not been rewarding. The complexity of the clinical phenotype is certainly, at least in part, responsible forthis.Moreover,next-generationDNAsequencingtechniquesandtherev- olutionary role of epigenetics are likely to provide crucial advances in the understanding of the multifactorial genetic susceptibility to this condition, andprobablyevenguideareappraisalofitsnosography.Paschouetal.summa- rizegeneticandgeneexpressionfindingsoncandidateneurotransmittergenes and comment on a breakthrough large pedigree analysis that introducedthe potentialroleofhistamineinthepathophysiologicalinterplayofticdisorders. Oneofthemainproblemsfacedbyresearchersinthisfieldhastradition- ally been the difficulty in developing informative animal models for tics. Theseissuesareofgreat relevancefor theunderstandingofthepathophys- iologyandthedevelopmentofnewtreatmentsforpatientswithGTS.The chaptersbyMcCairnandIsoda,focusingonthepharmacologicalapproach, and by Macr`ı et al., focusing on genetic and immunological approaches to animal models of tic disorders, cover these topics in great depth. xviii Preface An underinvestigated area in the neurobiology of GTS is the cross talk betweennervousandendocrinesystems.Thereispreliminary,butinfluen- tial,evidenceofaroleplayedbygonadalandstresshormonesinthenatural history of this condition, and the chapter by Martino, Macerollo, and Leckman aims at filling this literature gap. Thefinalpartofthevolumedelineatesthecontinuouslychangingrela- tionshipbetweenpharmacologicalagentsandthemanagementofticdisor- ders and related comorbidities. Pharmacological treatment of GTS is enteringanewera.Theincreasedawarenessoftheroleofpsychoeducation and social support, the refinement of cognitive–behavioral treatment approaches, and the highly promising results of deep brain stimulation for themanagementofotherwise“refractory”patientswiththisconditionforce clinicianstobothselectmorecarefullypatientswhorequirepharmacological treatment and tailor drug choice on the individual patient. Dopamine receptor-modulating agents have dominated the scene of pharmacological treatment for decades. The growing experience of clinicians in managing GTS with these drugs has differentiated the approach to antipsychotic use in tic disorders from the one in psychosis. Specific dopamine receptor-modulating agents, first among all aripiprazole, are showing their value, and new compounds acting on the same neurotransmitter system arecurrentlybeinginvestigated.Mogwitzetal.giveadetailedandsystem- aticoverviewonthisclassofdrugsandtheiruseinGTS.Inhisdetailedchap- ter, Hartmann offers a useful round up of all the available evidence on compounds active on other neurotransmitter systems. This topic is once more very important in view of a tailored approach to drug management of tic disorders: one example above all is the demonstration, through meta-analysis of existing trials, that a agonists such as clonidine and gua- 2 nfacine, previously considered indiscriminately as first-line agents in the treatmentoftics,aretrulyeffectiveonlyonpatientswithGTSandcomorbid attention deficit hyperactivitydisorder (ADHD).Cavanna andNani tackle theneglectedissueofticmanagementwithantiepilepticdrugs.Thisareahas attracted interest following the publication of a handful of trials, some of which promising,and probablydeserves moreinterest,given themultifac- eted pharmacodynamics of many antiepileptic agents. The treatment of the two most common comorbidities of GTS, obsessive–compulsivedisorder(OCD)andADHD,isanareaofgreatinter- esttotheclinician,giventheimpactonqualityoflifeandfunctionaldisabil- ity of these two conditions and the current trend for individually tailored interventions. In spite of this, good-quality clinical trials on ADHD
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