Have a personal or library account? Click to login
Management of Neuroacanthocytosis Syndromes Cover

Management of Neuroacanthocytosis Syndromes

By: Ruth H. Walker  
Open Access
|Oct 2015

References

  1. 1
    JungHHDanekAWalkerRHNeuroacanthocytosis syndromesOrphanet J Rare Dis20116http://dx.doi.org/10.1186/1750-1172-6-68
  2. 2
    HermannAChorea-acanthocytosisMicheliFELeWittPAChorea: causes and managementBerlinSpringer20153155
  3. 3
    HermannAWalkerRHDiagnosis and treatment of chorea syndromesCurr Neurol Neurosci Rep201515514http://dx.doi.org/10.1007/s11910-014-0514-025620691
  4. 4
    MiquelMSpampinatoULatxagueCShort and long term outcome of bilateral pallidal stimulation in chorea-acanthocytosisPLoS One20138e79241http://dx.doi.org/10.1371/journal.pone.007924124223913
  5. 5
    GiladiNManorYHilelAGurevichTInterdisciplinary teamwork for the treatment of people with Parkinson’s disease and their familiesCurr Neurol Neurosci Rep201414493http://dx.doi.org/10.1007/s11910-014-0493-125245121
  6. 6
    MonticoneMAmbrosiniELauriniARoccaBFotiCIn-patient multidisciplinary rehabilitation for Parkinson’s disease: a randomized controlled trialMov Disord20153010501058http://dx.doi.org/10.1002/mds.2625626095443
  7. 7
    McIntoshJMultidisciplinary neurorehabilitation in chorea-acanthocytosis: a case studyWalkerRHSaikiSDanekANeuroacanthocytosis syndromes IIBerlinSpringer-Verlag2008271284
  8. 8
    Velayos BaezaADobson-StoneCRampoldiLChorea-Acanthocytosis. 2002 Jun 14 [Updated 2014 Jan 30]PagonRAAdamMPArdingerHHGeneReviews® [Internet]Seattle (WA)University of Washington, Seattle; 1993–2015Available from: http://www.ncbi.nlm.nih.gov/books/NBK1387/
  9. 9
    SchneiderSAAggarwalABhattMSevere tongue protrusion dystonia: clinical syndromes and possible treatmentNeurology200667940943http://dx.doi.org/10.1212/01.wnl.0000237446.06971.7217000958
  10. 10
    GooneratneIKWeeratungaPNGamageRTeaching video neuroimages: orofacial dyskinesia and oral ulceration due to involuntary biting in neuroacanthocytosisNeurology201482e70http://dx.doi.org/10.1212/WNL.000000000000014424566231
  11. 11
    PaucarMLindstadP-AWalkerRHFeeding dystonia in chorea-acanthocytosisNeurology2015in press
  12. 12
    OrtegaMCNicolás PatricioSPDiazYJManagement of oromandibular dystonia on a chorea-acanthocytosis. A brief review of the literature and a clinical caseCranio20152151090315Y0000000027
  13. 13
    OngBDevathasanGChongPNChoreoacanthocytosis in a Chinese patient—a case reportSingapore Med J1989305065082617308
  14. 14
    KobalJDobson-StoneCDanekAFidlerVZvanBZaletelMChorea-acanthocytosis presenting as dystoniaActa Clin Croat20145310711224974674
  15. 15
    ArangoGJTenorioMMarulandaENeuroacanthocytosis: clinico-pathological study of a family with different phenotypesMov Disord200217S237S238
  16. 16
    LeeJHChoWHChaSHKangDWGlobus pallidus interna deep brain stimulation for chorea-acanthocytosisJ Korean Neurosurg Soc201557143146http://dx.doi.org/10.3340/jkns.2015.57.2.14325733999
  17. 17
    NakanoNMiyauchiMNakanishiKSaigohKMitsuiYKatoASuccessful combination of pallidal and thalamic stimulation for intractable involuntary movements in patients with neuroacanthocytosisWorld Neurosurg201510http://dx.doi.org/10.1016/j.wneu.2015.06.052
  18. 18
    StaffordGHHowardRSLavelleJThe management of osteoarthritis in movement disorders: a case discussionTremor Other Hyperkinet Mov (N Y)2013310.7916/D8MW2FVX
  19. 19
    MunhozRPKowacsPASóriaMGDucciRD-PRaskinSTeiveHAGCatamenial and oral contraceptive-induced exacerbation of chorea in chorea-acanthocytosis: case reportMov Disord200924142166216719735091
  20. 20
    BostantjopoulouSKatsarouZKazisAVadikoliaCNeuroacanthocytosis presenting as parkinsonismMov Disord20001512711273http://dx.doi.org/10.1002/1531-8257(200011)15:6<1271::AID-MDS1037>3.0.CO;2-T11104222
  21. 21
    ConnollyBSHazratiLNLangAENeuropathological findings in chorea-acanthocytosis: new insights into mechanisms underlying parkinsonism and seizuresActa Neuropathol2014127613615http://dx.doi.org/10.1007/s00401-013-1241-324394886
  22. 22
    NagyANoyceAVelayos-BaezaALeesAJWarnerTTLingHLate emergence of parkinsonian phenotype and abnormal dopamine transporter scan in chorea-acanthocytosisMov Disord Clin Pract20152182186http://dx.doi.org/10.1002/mdc3.12138
  23. 23
    SpitzMCJankovicJKillianJMFamilial tic disorder, parkinsonism, motor neuron disease, and acanthocytosis: a new syndromeNeurology198535366370http://dx.doi.org/10.1212/WNL.35.3.3663974894
  24. 24
    BrooksDJIbanezVPlayfordEDPresynaptic and postsynaptic striatal dopaminergic function in neuroacanthocytosis: a positron emission tomographic studyAnn Neurol199130166171http://dx.doi.org/10.1002/ana.4103002071897909
  25. 25
    SaikiSHiroseGSakaiKChorea-acanthocytosis associated with tourettismMov Disord200419833836http://dx.doi.org/10.1002/mds.2005015254946
  26. 26
    WalkerRHLiuQIchibaMSelf-mutilation in chorea-acanthocytosis: manifestation of movement disorder or psychopathology?Mov Disord20062122682269http://dx.doi.org/10.1002/mds.2115617044067
  27. 27
    FontenelleLFLeiteMATreatment-resistant self-mutilation, tics, and obsessive-compulsive disorder in neuroacanthocytosis: a mouth guard as a therapeutic approachJ Clin Psychiatry20086911861187http://dx.doi.org/10.4088/JCP.v69n0720a18687019
  28. 28
    WalterfangMLooiJCStynerMShape alterations in the striatum in chorea-acanthocytosisPsychiatry Res20111922936http://dx.doi.org/10.1016/j.pscychresns.2010.10.00621377843
  29. 29
    LinFCWeiLJShihPYEffect of levetiracetam on truncal tic in neuroacanthocytosisActa Neurol Taiwan200615384216599284
  30. 30
    Al-AsmiAJansenACBadhwarAFamilial temporal lobe epilepsy as a presenting feature of choreoacanthocytosisEpilepsia20054612561263http://dx.doi.org/10.1111/j.1528-1167.2005.65804.x16060937
  31. 31
    BalharaYPVargheseSTKayalMNeuroacanthocytosis: presenting with depressionJ Neuropsychiatry Clin Neurosci200618426http://dx.doi.org/10.1176/appi.neuropsych.18.3.42616963599
  32. 32
    HabermeyerBFuhrPHissBAlberCMüller-SpahnFObsessive-compulsive disorder due to neuroacanthocytosis treated with citalopram. A case reportPharmacopsychiatry200639193194http://dx.doi.org/10.1055/s-2006-94832916944412
  33. 33
    AkSGürelŞCBaşDFYağcioğluAEQuetiapine treatment for self-mutilation in chorea-acanthocytosis: a case reportJ Clin Psychopharmacol201535208209http://dx.doi.org/10.1097/JCP.000000000000027425634159
  34. 34
    RampoldiLDanekAMonacoAPClinical features and molecular bases of neuroacanthocytosisJ Mol Med200280475491http://dx.doi.org/10.1007/s00109-002-0349-z12185448
  35. 35
    ScheidRBaderBOttDVMerkenschlagerADanekADevelopment of mesial temporal lobe epilepsy in chorea-acanthocytosisNeurology20097314191422http://dx.doi.org/10.1212/WNL.0b013e3181bd80d419858465
  36. 36
    BaderBVollmarCAcklNBilateral temporal lobe epilepsy confirmed with intracranial EEG in chorea-acanthocytosisSeizure201120340342http://dx.doi.org/10.1016/j.seizure.2010.12.00721251854
  37. 37
    TiftikciogluBIDericiogluNSaygiSFocal seizures originating from the left temporal lobe in a case with chorea-acanthocytosisClin EEG Neurosci2006374649http://dx.doi.org/10.1177/15500594060370011016475485
  38. 38
    KageyamaYKodamaYTadanoMYamamotoSIchikawaK[A case of chorea-acanthocytosis with dilated cardiomyopathy and myopathy]Rinsho Shinkeigaku20004081682011218703
  39. 39
    LossosADobson-StoneCMonacoAPEarly clinical heterogeneity in choreoacanthocytosisArch Neurol200562611614http://dx.doi.org/10.1001/archneur.62.4.61115824261
  40. 40
    SendaYKoikeYSugimuraKMatsuokaYTakahashiA[Chorea-acanthocytosis with catecholamine abnormality and orthostatic hypotension—a case report]Rinsho Shinkeigaku1987278989033665281
  41. 41
    KiharaMNakashimaHTakiMTakahashiMKawamuraYA case of chorea-acanthocytosis with dysautonomia; quantitative autonomic deficits using CASSAuton Neurosci2002974244http://dx.doi.org/10.1016/S1566-0702(01)00387-312036185
  42. 42
    KiharaMKawamuraYSchmelzerJDAutonomic dysfunction in neuroacanthocytosis and causes of sudden death: analysis of a case of chorea-acanthocytosis with dysautonomiaWalkerRHSaikiSDanekANeuroacanthocytosis syndromes IIBerlin HeidelbergSpringer-Verlag2008239248
  43. 43
    JungHHHergersbergMKneifelSMcLeod syndrome: a novel mutation, predominant psychiatric manifestations, and distinct striatal imaging findingsAnn Neurol200149384392http://dx.doi.org/10.1002/ana.76.abs11261514
  44. 44
    UeyamaHKumamotoTNagaoSA novel mutation of the McLeod syndrome gene in a Japanese familyJ Neurol Sci2000176151154http://dx.doi.org/10.1016/S0022-510X(00)00307-510930599
  45. 45
    MirandaMJungHHDanekAWalkerRHThe chorea of McLeod syndrome: progression to hypokinesiaMov Disord20122717011702http://dx.doi.org/10.1002/mds.2522423192927
  46. 46
    ChauveauMDamon-PerriereNLatxagueCHead drops are also observed in McLeod syndromeMov Disord20112615621563http://dx.doi.org/10.1002/mds.2360521469202
  47. 47
    GantenbeinARDamon-PerrièreNBohlenderJEFeeding dystonia in McLeod syndromeMov Disord20112621232126http://dx.doi.org/10.1002/mds.2384321714011
  48. 48
    GuehlDCunyETisonFDeep brain pallidal stimulation for movement disorders in neuroacanthocytosisNeurology200768160161http://dx.doi.org/10.1212/01.wnl.0000250536.81426.1a17210902
  49. 49
    StarlingASchlesingerDKokFMcleod syndrome patients may present a variable phenotype that clinically overlaps with limb girdle muscular dystrophyNeuromuscular Disord200515691691
  50. 50
    KawakamiTTakiyamaYSakoeKA case of McLeod syndrome with unusually severe myopathyJ Neurol Sci19991663639http://dx.doi.org/10.1016/S0022-510X(99)00108-210465497
  51. 51
    HewerEDanekASchoserBGMcLeod myopathy revisited: more neurogenic and less benignBrain200713032853296http://dx.doi.org/10.1093/brain/awm26918055495
  52. 52
    SwashMSchwartzMSCarterNDHeathRLeakMRogersKLBenign X-linked myopathy with acanthocytes (McLeod syndrome). Its relationship to X-linked muscular dystrophyBrain19831067177336685553
  53. 53
    JungHHBrandnerSMalignant McLeod myopathyMuscle Nerve200226424427http://dx.doi.org/10.1002/mus.1019912210375
  54. 54
    JungHHDanekAWalkerRHFreyBMGassnerCMcLeod Neuroacanthocytosis Syndrome. 2004 Dec 3 [Updated 2012 May 17]PagonRAAdamMPArdingerHHGeneReviews® [Internet]Seattle (WA)University of Washington, Seattle; 1993–2015Available from: http://www.ncbi.nlm.nih.gov/books/NBK1354/
  55. 55
    FaillaceRTKingstonWJNandaNCGriggsRCCardiomyopathy associated with the syndrome of amyotrophic chorea and acanthocytosisAnn Intern Med198296616617http://dx.doi.org/10.7326/0003-4819-96-5-6167073157
  56. 56
    OechslinEKaupDJenniRJungHHCardiac abnormalities in McLeod syndromeInt J Cardiol2009132130132http://dx.doi.org/10.1016/j.ijcard.2007.07.16718045706
  57. 57
    DanekARubioJPRampoldiLMcLeod neuroacanthocytosis: genotype and phenotypeAnn Neurol200150755764http://dx.doi.org/10.1016/S0887-7963(02)80074-811761473
  58. 58
    AllenFHJrKrabbeSMCorcoranPAA new phenotype (McLeod) in the Kell blood-group systemVox Sang19616555560http://dx.doi.org/10.1111/j.1423-0410.1961.tb03203.x13860532
  59. 59
    WimerBMMarshWLTaswellHFGaleyWRHaematological changes associated with the McLeod phenotype of the Kell blood group systemBr J Haematol197736219224http://dx.doi.org/10.1111/j.1365-2141.1977.tb00642.x871435
  60. 60
    HoMChellyJCarterNDanekACrockerPMonacoAPIsolation of the gene for McLeod syndrome that encodes a novel membrane-transport proteinCell199477869880http://dx.doi.org/10.1016/S0887-7963(96)80137-48004674
  61. 61
    RussoDRedmanCLeeSAssociation of XK and Kell blood group proteinsJ Biol Chem19982731395013956http://dx.doi.org/10.1074/jbc.273.22.139509593744
  62. 62
    BansalIJeonHRHuiSRTransfusion support for a patient with McLeod phenotype without chronic granulomatous disease and with antibodies to Kx and KmVox Sang200894216220http://dx.doi.org/10.1111/j.1423-0410.2007.01021.x18167163
  63. 63
    FreyDMächlerMSegerRSchmidWOrkinSHGene deletion in a patient with chronic granulomatous disease and McLeod syndrome: fine mapping of the Xk gene locusBlood1988712522553334897
  64. 64
    GuyattGHKellerJLJaeschkeRRosenbloomDAdachiJDNewhouseMTThe n-of-1 randomized controlled trial: clinical usefulness. Our three-year experienceAnn Intern Med1990112293299http://dx.doi.org/10.7326/0003-4819-112-4-2932297206
  65. 65
    DuanNKravitzRLSchmidCHSingle-patient (n-of-1) trials: a pragmatic clinical decision methodology for patient-centered comparative effectiveness researchJ Clin Epidemiol201366S21S28http://dx.doi.org/10.1016/j.jclinepi.2013.04.00623849149
  66. 66
    AugustineEFAdamsHRMinkJWClinical trials in rare disease: challenges and opportunitiesJ Child Neurol20132811421150http://dx.doi.org/10.1177/088307381349595924014509
  67. 67
    KalmanBLautenschlaegerRKohlmayerFAn international registry for neurodegeneration with brain iron accumulationOrphanet J Rare Dis201276667http://dx.doi.org/10.1186/1750-1172-7-6622985983
  68. 68
    HartigMBProkischHMeitingerTKlopstockTPantothenate kinase-associated neurodegenerationCurr Drug Targets20121311821189http://dx.doi.org/10.2174/13894501280200238422515741
  69. 69
    BudychKHelmsTMSchultzCHow do patients with rare diseases experience the medical encounter? Exploring role behavior and its impact on patient-physician interactionHealth Policy2012105154164http://dx.doi.org/10.1016/j.healthpol.2012.02.01822464590
  70. 70
    IrvineGIrvineGAn ultra-rare disease? Where do we go from here?Tremor Other Hyperkinet Mov (N Y)2013310.7916/D8GB22R8
DOI: https://doi.org/10.5334/tohm.274 | Journal eISSN: 2160-8288
Language: English
Submitted on: Aug 24, 2015
Accepted on: Sep 24, 2015
Published on: Oct 19, 2015
Published by: Columbia University Libraries/Information Services
In partnership with: Paradigm Publishing Services
Publication frequency: 1 issue per year

© 2015 Ruth H. Walker, published by Columbia University Libraries/Information Services
This work is licensed under the Creative Commons License.