Inherited Neuromuscular Diseases: Translation from Pathomechanisms to Therapies PDF
Preview Inherited Neuromuscular Diseases: Translation from Pathomechanisms to Therapies
ADVANCES IN EXPERIMENTAL MEDICINE AND BIOLOGY INHERITED Volume 652 NEUROMUSCULAR DISEASES TRANSLATION FROM PATHOMECHANISMS TO THERAPIES Edited by Carmen Espinós Vicente Felipo Francesc Palau Inherited Neuromuscular Diseases Volume 652 ADVANCESINEXPERIMENTALMEDICINEANDBIOLOGY EditorialBoard: NATHANBACK,StateUniversityofNewYorkatBuffalo IRUNR.COHEN,TheWeizmannInstituteofScience ABELLAJTHA,N.S.KlineInstituteforPsychiatricResearch JOHND.LAMBRIS,UniversityofPennsylvania RODOLFOPAOLETTI,UniversityofMilan RecentVolumesinthisSeries Volume641 CELLULAROSCILLATORYMECHANISMS EditedbyMiguelMarotoandNickMonk Volume642 THESARCOMEREANDSKELETALMUSCLEDISEASE EditedbyNigelG.Laing Volume643 TAURINE7 EditedbyJunichiAzuma Volume644 TROPOMYOSIN EditedbyPeterGunning Volume645 OXYGENTRANSPORTTOTISSUEXXX EditedbyPerLiss,PeterHansell,DuaneF.Bruley,andDavidK.Harrison Volume646 EARLYNUTRITIONPROGRAMMINGANDHEALTH OUTCOMESINLATERLIFE EditedbyBertholdKoletzko,TamásDesci,DenesMolnár, andAnneDelaHunty Volume647 THERAPEUTICTARGETSOFTHETNFSUPERFAMILY EditedbyIqbalGrewal Volume648 ARTERIALCHEMORECEPTORS EditedbyConstancioGonzalez,ColinA.Nurse,andChrisPeers AContinuation Order Planisavailableforthis series. Acontinuationorderwill bring delivery of each new volume immediately upon publication. Volumes are billed only uponactualshipment.Forfurtherinformationpleasecontactthepublisher. · · Carmen Espinós Vicente Felipo Francesc Palau Editors Inherited Neuromuscular Diseases Translation from Pathomechanisms to Therapies 123 Editors Dr.CarmenEspinós Dr.VicenteFelipo CIBERER-BIOBANK CentrodeInvestigación CIBERdeEnfermedadesRaras PríncipeFelipe Lab.Neurobiología Avda.Campanar,21 Av.AutopistadelSaler,16 46009Valencia 46012Valencia Spain Spain [email protected] [email protected] Dr.FrancescPalau InstitutodeBiomedicina,CSIC CIBERdeEnfermedadesRaras C/JaumeRoig,11 46010Valencia Spain [email protected] ISSN0065-2598 ISBN978-90-481-2812-9 e-ISBN978-90-481-2813-6 DOI10.1007/978-90-481-2813-6 SpringerDordrechtHeidelbergLondonNewYork LibraryofCongressControlNumber:2009936205 ©SpringerScience+BusinessMediaB.V.2009 Nopartofthisworkmaybereproduced,storedinaretrievalsystem,ortransmittedinanyformorby anymeans,electronic,mechanical,photocopying,microfilming,recordingorotherwise,withoutwritten permissionfromthePublisher,withtheexceptionofanymaterialsuppliedspecificallyforthepurpose ofbeingenteredandexecutedonacomputersystem,forexclusiveusebythepurchaserofthework. Coverdesign:BoekhorstDesignb.v. Printedonacid-freepaper SpringerispartofSpringerScience+BusinessMedia(www.springer.com) Preface This volume contains the text of the presentations delivered at the International SymposiumonRareDiseases“InheritedNeuromuscularDiseases:Translationfrom Pathomechanisms to Therapies”, held in Valencia, Spain, from November 16 to 18, 2008. The symposium represents a part of the continuous efforts on diffu- sion of science to the society of the Cátedra Santiago Grisolía and the Fundación CiudaddelasArtesylasCiencias–ComunitatValenciana.Morethan200interna- tionalscientistsfromdifferentcountriesofEurope,theUSA,andAustraliaattended the meeting. The venue was the Auditorium of the Science Museum Príncipe Felipe. Ten years ago Alan Emery wrote in the preface of Neuromuscular Disorders: Clinical and Molecular Genetics the following comments: “It has been estimated that more than one person in every 3,000 has a serious disabling inherited neu- romuscular disorder. The suffering caused by these disorders is considerable, but, untilthelastdecadeorso,virtuallynothingwasknownoftheirpathogenesis.Any rationaleapproachtotreatmentwasthereforeoutofthequestion.However,matters arenowchangingrapidly.Thegenesformanyofthesedisordershavebeenlocalised and characterised and their gene products identified and studied. The detection of preclinical disease, the identification of heterozygous carriers and prenatal diag- nosis are all becoming possible, and, hopefully, effective treatments may no be too far distant.” Ten years later, more genes associated with neuromuscular dis- orders have been reported, confirming the wide genetic heterogeneity of most of diseases of the peripheral nervous system. Thinking genetically has become more important and more compelling. It allows the unequivocal diagnosis of neonatal, pediatric and adult diseases whose etiology has a genetic basis, thus providing a more accurate prediction of natural history and prognosis, and reproductive plan- ningforthefamily,notonlyofferinggeneticcounsellingandprenataldiagnosisbut also preimplantational genetic diagnosis. Moreover, for a number of them molec- ularandcellpathogenesisissuggestingnewmoleculartargetsand,morerelevant, novel therapeutic approaches are currently developing to manage and treat these disorders,includingnewdrugsandgeneandcellulartherapies.Wethoughtthatwas the moment to share with clinicians, biomedical researchers, colleagues, medical specialistsintrainingandstudentswhichisthecurrentstatusoftheknowledgeand treatmentofneuromusculardisorders. v vi Preface Thus, the main aim of the Symposium was to join outstanding physicians and scientistsfromovertheworldwhodeveloptheiractivitiesindifferentareasofthe neuromuscular disorders, from pathogenic mechanisms to therapies. Discussion was oriented to talk about the state-of-the-art of inherited neuromuscular diseases as a whole, including muscular dystrophies, mitochondrial disorders, peripheral neuropathies, spinal muscular atrophy, motoneurone disease, ataxias and spastic paraplegias. Participants, both speakers and attendees, had the opportunity to con- front and compare pathogenic mechanisms and molecular targets for the different diseases, as a forum for discussion of the rational basis of the new therapeutic approaches. Currentdaysareexcitingforthefieldofneuromusculardiseases.Knowledgeof the epidemiology and natural history of the diseases is improving the perception of these disorders by the general and specialized physicians, the general popula- tion and political authorities. In the last fifteen years molecular genetics findings haveimproveourunderstandingofthegenesandmoleculesinvolvedinmuscleand nerve diseases, and also have provide new tools for diagnosis. These tools allow thecliniciansandgeneticiststooffernewwaysfordiseasepreventionsuchgenetic counsellingbasedonspecifictestsandprenatalandpreimplantationalgeneticdiag- noses. More recently new therapeutic approaches are coming into the field and are of major interest for researchers. Cell therapies and gene-addressed therapies suchexon-skippinginDuchennemusculardystrophyareanencouragingexample. Treatment of mitochondrial disorders is not easy in many instances but in some casesitispossibleasithappensintherecentgroupofcoenzymeQ deficiencies 10 associated with neurological syndromes for which replacement therapies may be curativeorhaveagoodpalliativeresponse.ClinicaltrialsareongoingforCharcot- Marie-ToothneuropathiesandFriedreichataxia,changingthepanoramawehadjust fewyearsago. This book provides, therefore, an update on the knowledge of certain cru- cial aspects regarding to mechanisms and treatment of disorders of the peripheral nervoussystem. We would like to express our gratitude to all participants for their written contributionsandtheveryfruitfuldiscussion. WealsothanktheCIBERdeEnfermedadesRaras(CIBERER),theInstitutode Biomedicina de Valencia, CSIC, the Cátedra Santiago Grisolía and the Fundación Ciudad de las Artes y las Ciencias – Comunitat Valenciana, which provided the personnel and the facilities to organize the Symposium. The Symposium was par- tially funded by grants from the Ministry of Science and Innovation, Conselleria de Educación de la Generalitat Valenciana, Fundación Premios Rey Jaime I, the CIBERER,Genzyme,S.L.,Lilly,S.AandMerckSharp&DohmedeEspaña,S.A., andTREAT-NMD. Valencia,Spain CarmenEspinós Valencia,Spain VicenteFelipo Valencia,Spain FrancescPalau Contents 1 PathologyandDiagnosisofMuscularDystrophies . . . . . . . . . 1 CarmenNavarro,SusanaTeijeira,andBeatrizSanMillán 2 StandardsofCareforDuchenneMuscularDystrophy: BriefTreat-NMDRecommendations . . . . . . . . . . . . . . . . . 13 ThomasSejersonandKateBushbyonBehalfofthe TREAT-NMDEUNetworkofExcellence 3 GeneticsandPathogenesisofDistalMuscularDystrophies . . . . . 23 BjarneUdd 4 Phenotype Variations in Early Onset Pompe Disease: (cid:2) DiagnosisandTreatmentResultswithMyozymeR . . . . . . . . . 39 SamuelIgnacioPascualPascual 5 Diseases of the Human Mitochondrial Oxidative PhosphorylationSystem . . . . . . . . . . . . . . . . . . . . . . . . 47 JulioMontoya,EsterLópez-Gallardo, MaríaDoloresHerrero-Martín,ÍñigoMartínez-Romero, AuroraGómez-Durán,DavidPacheu, MagdalenaCarreras,CarmenDíez-Sánchez, ManuelJ.López-Pérez,andEduardoRuiz-Pesini 6 Mitochondrial Diseases: A Cross-Talk BetweenMitochondrialandNuclearGenomes. . . . . . . . . . . . 69 AntonellaSpinazzolaandMassimoZeviani 7 MitochondrialDisordersDuetoNuclearOXPHOSGeneDefects . 85 CristinaUgalde,MaríaMorán,AlbertoBlázquez, JoaquínArenas,andMiguelA.Martín 8 CoenzymeQ DeficienciesinNeuromuscularDiseases . . . . . . . 117 10 RafaelArtuch,LeonardoSalviati,SandraJackson, MichioHirano,andPlácidoNavas vii viii Contents 9 The Role of Mitochondrial Network Dynamics in the PathogenesisofCharcot-Marie-ToothDisease . . . . . . . . . . . . 129 FrancescPalau,AnnaEstela,DavidPla-Martín,and MaribelSánchez-Piris 10 PathogenesisandTreatmentofMitochondrialDisorders . . . . . . 139 SalvatoreDiMauroandMichioHirano 11 BiologyofPeripheralInheritedNeuropathies:Schwann CellAxonalInteractions . . . . . . . . . . . . . . . . . . . . . . . . 171 MichaelE.Shy 12 PhenotypeandClinicalEvolutionofCharcot-Marie-Tooth DiseaseType1ADuplication. . . . . . . . . . . . . . . . . . . . . . 183 JoséBerciano,AntonioGarcía,ElenaGallardo,CésarRamón, andOnofreCombarros 13 Genotypes & Sensory Phenotypes in 2 New X-Linked Neuropathies (CMTX3 and dSMAX) and Dominant CMT/HMNOverlapSyndromes . . . . . . . . . . . . . . . . . . . 201 GarthNicholson,MarinaKennerson,MeganBrewer, JamesGarbern,andMichaelShy 14 NaturalHistoryandTreatmentofPeripheral InheritedNeuropathies. . . . . . . . . . . . . . . . . . . . . . . . . 207 DavidePareysonandChiaraMarchesi 15 SpinalMuscularAtrophyDuringHumanDevelopment: WhereAretheEarlyPathogenicFindings? . . . . . . . . . . . . . 225 EduardoTizzano 16 SpinalMuscularAtrophy . . . . . . . . . . . . . . . . . . . . . . . 237 JérémieVitte,RubenAttali,NasimWarwar,IrenaGurt,and JudithMelki 17 FriedreichAtaxia:AnUpdateonAnimalModels,Frataxin FunctionandTherapies . . . . . . . . . . . . . . . . . . . . . . . . 247 PilarGonzález-Cabo,JoséVicenteLlorens,FrancescPalau, andMariaDoloresMoltó 18 GeneticsandPathogenesisofInheritedAtaxiasandSpastic Paraplegias . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 263 CarmenEspinósandFrancescPalau Index . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 297 Contributors J.Arenas MitochondrialDiseasesLaboratory,ResearchCenter,“12deOctubre” UniversityHospitalandU723,CIBERdeEnfermedadesRaras(CIBERER), InstitutodeSaludCarlosIII,Madrid,Spain R.Artuch BiochemistryDepartment,HospitalSantJoandeDéuandCIBERde EnfermedadesRaras(CIBERER),ISCIII,Barcelona,Spain R.Attali DepartmentofHumanGenetics,HadassahUniversityHospital,POBox 91120,Jerusalem,Israel J.Berciano ServiceofNeurology,ClinicalNeurophysiologyandRadiology, UniversityHospital“MarquésdeValdecilla”,UniversityofCantabria,CIBERNED andIFIMAV,Santander,Spain,[email protected] A.Blázquez MitochondrialDiseasesLaboratory,ResearchCenter,“12de Octubre”UniversityHospitalandU723,CIBERdeEnfermedadesRaras (CIBERER),InstitutodeSaludCarlosIII,Madrid,Spain M.Brewer UniversityofSydneyattheANZAC,ResearchInstitute,Concord Hospital,SydneyNSW2139,Australia K.Bushby InstituteofHumanGenetics,InternationalCentreforLife,Newcastle uponTyne,UK,[email protected] M.Carreras CIBERdeEnfermedadesRaras(CIBERER),ISCIII,and DepartamentodeBioquímica,Biología,MolecularyCelular,Universidadde Zaragoza,Zaragoza,Spain O.Combarros ServicesofNeurology,ClinicalNeurophysiologyandRadiology, UniversityHospital“MarquésdeValdecilla”,UniversityofCantabria,CIBERNED andIFIMAV,Santander,Spain S.Dimauro DepartmentofNeurology,ColumbiaUniversityMedicalCenter,New York,10032USA C.Espinós LaboratoryofGeneticsandMolecularMedicine,Institutode BiomedicinadeValenciaCSICandCIBERdeEnfermedadesRaras(CIBERER), Valencia,Spain ix
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