Movement Disorders and Inherited Metabolic Disorders: Recognition, Understanding, Improving Outcomes

442 Pages·2020·12.601 MB·English

by  Darius Ebrahimi-Fakhari, Phillip L. Pearl

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
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DOI:10.1017/9781108556767
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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