Movement Disorders and Inherited Metabolic Disorders: Recognition, Understanding, Improving Outcomes PDF
Preview Movement Disorders and Inherited Metabolic Disorders: Recognition, Understanding, Improving Outcomes
Movement Disorders and Inherited Metabolic Disorders Movement Disorders and Inherited Metabolic Disorders Recognition, Understanding, Improving Outcomes Edited by Darius Ebrahimi-Fakhari HarvardMedicalSchool Phillip L. Pearl HarvardMedicalSchool UniversityPrintingHouse,CambridgeCB28BS,United Kingdom OneLibertyPlaza,20thFloor,NewYork,NY10006,USA 477WilliamstownRoad,PortMelbourne,VIC3207,Australia 314–321,3rdFloor,Plot3,SplendorForum,JasolaDistrict Centre,NewDelhi–110025,India 79AnsonRoad,#06–04/06,Singapore079906 CambridgeUniversityPressispartoftheUniversityof Cambridge. ItfurtherstheUniversity’smissionbydisseminatingknowledge inthepursuitofeducation,learning,andresearchatthehighest internationallevelsofexcellence. www.cambridge.org Informationonthistitle:www.cambridge.org/9781108840026 DOI:10.1017/9781108556767 ©CambridgeUniversityPress2020 Thispublicationisincopyright.Subjecttostatutoryexception andtotheprovisionsofrelevantcollectivelicensing agreements,noreproductionofanypartmaytakeplace withoutthewrittenpermissionofCambridgeUniversityPress. Firstpublished2020 PrintedintheUnitedKingdombyTJInternationalLtd, PadstowCornwall Acataloguerecordforthispublicationisavailablefromthe BritishLibrary. ISBN978-1-108-84002-6Hardback ISBN978-1-108-55676-7CambridgeCore ISBN978-1-108-55674-3Print-onlinebundle CambridgeUniversityPresshasnoresponsibilityforthe persistenceoraccuracyofURLsforexternalorthird-party Internetwebsitesreferredtointhispublicationanddoesnot guaranteethatanycontentonsuchwebsitesis,orwillremain, accurateorappropriate. ............................................................................................ Everyefforthasbeenmadeinpreparingthisbooktoprovide accurateandup-to-dateinformationthatisinaccordwith acceptedstandardsandpracticeatthetimeofpublication. Althoughcasehistoriesaredrawnfromactualcases,every efforthasbeenmadetodisguisetheidentitiesoftheindividuals involved.Nevertheless,theauthors,editors,andpublisherscan makenowarrantiesthattheinformationcontainedhereinis totallyfreefromerror,notleastbecauseclinicalstandardsare constantlychangingthroughresearchandregulation.The authors,editors,andpublishersthereforedisclaimallliability fordirectorconsequentialdamagesresultingfromtheuseof materialcontainedinthisbook.Readersarestronglyadvisedto paycarefulattentiontoinformationprovidedbythe manufacturerofanydrugsorequipmentthattheyplantouse. Withthankstoourcontributors,whomadethisbookpossible. With commitment to our colleagues and patients, who give our livespurpose. Withlovetoourfamilies,whoweneedmostofall. Contents ListofContributors pageix Preface xiii Acknowledgments xiv Section I: General Principles and a 9 APhenomenology-BasedApproachtoInborn ErrorsofMetabolismwithParkinsonism 124 Phenomenology-Based Approach to ClaudioMelodeGusmaoandLaura Movement Disorders and Inherited Silveira-Moriyama Metabolic Disorders 10 APhenomenology-BasedApproachtoInborn ErrorsofMetabolismwithSpasticity 143 1 TreatableMetabolicMovementDisorders: LauraTochenandToniS.Pearson TheTop10 1 11 APhenomenology-BasedApproachtoInborn DariusEbrahimi-FakhariandPhillip ErrorsofMetabolismwithMyoclonus 155 L.Pearl LisetteH.Koens,RodiZutt,TomJ.de 2 TheImportanceofMovementDisordersin Koning,andMarinaA.J.Tijssen InbornErrorsofMetabolism 15 AngelesGarcía-Cazorla Section II: A Metabolism-Based 3 The Importance of Inborn Errors of Metabolism for Movement Disorders 26 Approach to Movement Disorders ColinWilbur,DariusEbrahimi-Fakhari, and Inherited Metabolic Disorders SaadetMercimek-Andrews,andAnthony E.Lang 12 DisordersofAminoAcidMetabolism:Amino AcidDisorders,OrganicAcidurias,andUrea 4 ImaginginMetabolicMovement Disorders 43 CycleDisorderswithMovement Disorders 171 LanceRodanandEdwardYang StefanKölker 5 BiochemicalTestingforMetabolic MovementDisorders 69 13 DisordersofEnergyMetabolism:GLUT1 DeficiencySyndromeandMovement NenadBlauandGeorgF.Hoffmann Disorders 183 6 GeneticTestingforMetabolicMovement RoserPons,ToniS.Pearson,andDarryl Disorders 84 C.DeVivo TomJ.deKoning 14 Lysosomal Storage Disorders: Niemann–Pick 7 APhenomenology-BasedApproachtoInborn Disease Type C and Movement ErrorsofMetabolismwithAtaxia 94 Disorders 196 BiancaM.L.SteltenandBartP.C.vande MarcC.Patterson Warrenburg 15 LysosomalStorageDisorders:Neuronal 8 APhenomenology-BasedApproachtoInborn CeroidLipofuscinosesandMovement ErrorsofMetabolismwithDystonia 111 Disorders 202 HendriekjeEggink,AnoukKuiper,Tom JenniferVermilion,JonathanW.Mink, J.deKoning,MartjeE.vanEgmond,and andErikaF.Augustine MarinaA.J.Tijssen vii Contents 16 SyndromesofNeurodegenerationwithBrain 26 DisordersofCholesterolMetabolism: IronAccumulation 215 CerebrotendinousXanthomatosisand SusanneA.Schneider,CarmenEspinós, MovementDisorders 321 andBelénPérez-Dueñas FannyMochelandEmmanuelRoze 17 MetalStorageDisorders:InheritedDisorders 27 PurineMetabolismDefects:The ofCopperandManganeseMetabolismand MovementDisorderofLesch–Nyhan MovementDisorders 230 Disease 327 KarinTuschlandPeterT.Clayton JasperE.VisserandHyderA.Jinnah 18 MetalStorageDisorders:PrimaryFamilial 28 DisordersofCreatineMetabolism:Creatine BrainCalcificationandMovement DeficiencySyndromesandMovement Disorders 244 Disorders 342 AnaWestenbergerandChristineKlein SaadetMercimek-Andrews 19 DisordersofGlycosylationandMovement 29 HereditarySpasticParaplegia-RelatedInborn Disorders 254 ErrorsofMetabolism 348 EvaMorava,CarlosR.Ferreira,andMarc HenryHoulden,SarahWiethoff,and Patterson ThomasBourinaris 20 DisordersofPost-TranslationalModifications/ Degradation:AutophagyandMovement Section III: Conclusions and Future Disorders 270 Directions AfshinSaffariandDariusEbrahimi- Fakhari 30 MetabolicMovementDisordersintheEra 21 NeurotransmitterDisorders:Disordersof ofNext-GenerationSequencing 365 DopamineMetabolismandMovement FatimaY.Ismail,MohammedAlmuqbil, Disorders 278 andAliFatemi ThomasOpladenandHeikoBrennenstuhl 31 DeepBrainStimulationforMetabolic 22 NeurotransmitterDisorders:DNAJC12- MovementDisorders 375 DeficientHyperphenylalaninemia–An PhilippeDeVloo,GeorgeM.Ibrahim, EmergingNeurotransmitterDisorder 290 ScelligS.Stone,andSuneilK.Kalia NenadBlauandManuelSchiff 32 NovelTherapeuticApproachestoMetabolic 23 NeurotransmitterDisorders:Disorders MovementDisorders 393 ofGABAMetabolismandMovement GabriellaA.HorvathandClaraD.van Disorders 296 Karnebeek PhillipL.Pearl,MelissaDiBacco, ClosingRemarks:AClinicalApproachto K.MichaelGibson,andJean-Baptiste InheritedMetabolicMovement Roullet Disorders 411 24 Vitamin-ResponsiveDisorders:Ataxiawith DariusEbrahimi-FakhariandPhillip VitaminEDeficiencyandMovement L.Pearl Disorders 307 KrisztinaK.JohansenandJanO.Aasly 25 Vitamin-ResponsiveDisorders:Biotin– Thiamine-ResponsiveBasalGangliaDisease Appendix:VideoCaptions-seeCambridgeCore andMovementDisorders 314 versionforaccesstovideocontent 413 AlbertL.MiskoandFlorianS.Eichler Index 414 viii Contributors TomJ.deKoning,MD,PhD,MBA JanO.Aasly,MD ExpertiseCenterMovementDisordersGroningen, DepartmentofNeurology,St.OlavsHospitaland DepartmentofNeurologyandGenetics,University NorwegianUniversityofScienceandTechnology, MedicalCenterGroningen,UniversityofGroningen, Trondheim,Norway Groningen,TheNetherlands MohammedAlmuqbil,MD,FRCPC Pediatrics,DepartmentofClinicalSciences,Lund InstituteofGeneticMedicine,JohnsHopkins University,Lund,Sweden Hospital,Baltimore,MD,USA DarrylC.DeVivo,MD DivisionofPediatricNeurology,KingSaudbin DivisionofPediatricNeurology,Departmentsof AbdulazizUniversityforHealthSciences,Riyadh, NeurologyandPediatrics,ColumbiaUniversity SaudiArabia VagelosCollegeofPhysiciansandSurgeons, ErikaF.Augustine,MD,MS NewYork,NY,USA DepartmentsofNeurologyandPediatrics,University PhilippeDeVloo,MD,PhD ofRochesterMedicalCenter,Rochester,NY,USA DivisionofNeurosurgery,TorontoWesternHospital, NenadBlau,PhD Toronto,ON,Canada Dietmar-HoppMetabolicCentre,University DepartmentofNeurosurgery,GreatOrmondStreet Children’sHospital,UniversityofHeidelberg, HospitalforChildrenNHSTrust,London,UK Heidelberg,Germany DivisionofMetabolism,UniversityChildren’s MelissaDiBacco,MD Hospital,UniversityofZürich,Zürich,Switzerland DepartmentofNeurology,BostonChildren’s Hospital,HarvardMedicalSchool,Boston,MA,USA ThomasBourinaris,MD,MSc DepartmentofNeuromuscularDisorders,Instituteof DariusEbrahimi-Fakhari,MD,PhD Neurology,FacultyofBrainSciences,University Department of Neurology, Boston Children’s CollegeLondon,London,UK Hospital, Harvard Medical School, Boston, MA, USA HeikoBrennenstuhl,MD DepartmentofGeneralPediatrics,Divisionof FlorianS.Eichler,MD NeuropediatricsandMetabolicMedicine,University Department of Neurology, Massachusetts General Children’sHospitalHeidelberg,Heidelberg,Germany Hospital, Harvard Medical School, Boston, MA, USA PeterT.Clayton,MD,FRCP,FRCPCH UCLGreatOrmondStreetInstituteofChildHealth, HendriekjeEggink,MD,PhD UniversityCollegeLondon,andGreatOrmondStreet ExpertiseCenterMovementDisordersGroningen, HospitalforChildrenNHSTrust,London,UK DepartmentofNeurology,UniversityMedicalCenter Groningen,UniversityofGroningen,Groningen, ClaudioMelodeGusmao,MD TheNetherlands Department of Neurology, Boston Children’s Hospital, Harvard Medical School, Boston, MA, CarmenEspinós,PhD USA UnitofGeneticsandGenomicsofNeuromuscular andNeurodegenerativeDisorders,Centrode ix ListofContributors InvestigaciónPríncipeFelipe(CIPF),Valencia, KrisztinaK.Johansen,MD,PhD Spain DepartmentofNeurology,St.OlavsHospitaland NorwegianUniversityofScienceandTechnology, AliFatemi,MD,MBA Trondheim,Norway TheKennedyKriegerInstitute,JohnsHopkins MedicalInstitutions,Baltimore,MD,USA SuneilK.Kalia,MD,PhD,FRCSC DivisionofNeurosurgery,TorontoWesternHospital, CarlosR.Ferreira,MD andKrembilBrainInstitute,UniversityofToronto, DivisionofGeneticsandMetabolism,Children’s Toronto,ON,Canada NationalHealthSystem,Washington,DC,USA NationalHumanGenomeResearchInstitute, ChristineKlein,MD NationalInstitutesofHealth,Bethesda,MD, InstituteofNeurogenetics,UniversityofLübeck, USA Lübeck,Germany LisetteH.Koens,MD AngelesGarcía-Cazorla,MD,PhD DepartmentofNeurology,UniversityMedicalCenter NeurometabolicUnitandSynapticMetabolism Groningen,UniversityofGroningen,Groningen,The Laboratory,HospitalSantJoandeDéuBarcelona, Netherlands Barcelona,Spain StefanKölker,MD K.MichaelGibson,PhD DivisionofChildNeurologyandMetabolicMedicine, WashingtonStateUniversityCollegeofPharmacy, CentreforChildandAdolescentMedicine,University Spokane,WA,USA HospitalHeidelberg,Heidelberg,Germany GeorgF.Hoffmann,MD AnoukKuiper,MD Dietmar-HoppMetabolicCenterandCentrefor ExpertiseCenterMovementDisordersGroningen, PediatricsandAdolescentMedicine,University Children’sHospital,UniversityofHeidelberg, DepartmentofNeurology,UniversityMedicalCenter Groningen,UniversityofGroningen,Groningen,The Heidelberg,Germany Netherlands GabriellaA.Horvath,MD,PhD AnthonyE.Lang,MD DivisionofBiochemicalGenetics,Departmentof EdmondJSafraPrograminParkinson’sDiseaseand Pediatrics,UniversityofBritishColumbia,BC theMortonandGloriaShulmanMovementDisorders Children’sHospital,Vancouver,BC,Canada Clinic,TorontoWesternHospitalandDivisionof Neurology,DepartmentofMedicine,Universityof HenryHoulden,MD,PhD Toronto,Toronto,ON,Canada DepartmentofNeuromuscularDisorders,UCL InstituteofNeurology,FacultyofBrainSciences, SaadetMercimek-Andrews,MD,PhD UniversityCollegeLondon,London,UK DivisionofClinicalandMetabolicGenetics, DepartmentofPediatrics,UniversityofTorontoand GeorgeM.Ibrahim,MD,PhD,FRCSC GeneticsandGenomeBiologyProgram,TheHospital DivisionofNeurosurgery,theHospitalforSick forSickChildren,Toronto,ON,Canada Children,Toronto,ON,Canada JonathanW.Mink,MD,PhD FatimaY.Ismail,MBBS DivisionofChildNeurology,Departmentof KennedyKriegerInstitute,TheJohnHopkins Neurology,UniversityofRochesterMedicalCentre, Hospital,Baltimore,MD,USA Rochester,NY,USA HyderA.Jinnah,MD,PhD AlbertL.Misko,MD,PhD DepartmentsofNeurology,HumanGenetics,and MassachusettsGeneralHospital,Departmentof Pediatrics,EmoryUniversitySchoolofMedicine, Neurology,HarvardMedicalSchool,Boston,MA, Atlanta,GA,USA USA x
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