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Benign Hereditary Chorea: An Update Cover

Benign Hereditary Chorea: An Update

Tremor and Other Hyperkinetic Movements
Volume 5 (2015): Issue 0
By: Kathryn J. Peall and  Manju A. Kurian  
Open Access
|Jul 2015

References

  1. 1
    HaererAFCurrierRDJacksonJFHereditary nonprogressive chorea of early onsetN Engl J Med196727612201224doi: http://dx.doi.org/10.1056/NEJM1967060127622024225827
    Back to article
  2. 2
    BirdTDCarlsonCBHallJGFamilial essential (“benign”) choreaJ Med Gen197613357362doi: http://dx.doi.org/10.1111/j.1399-0004.1978.tb02146.x
    Back to article
  3. 3
    BurnsJNeuhauserGTomasiLBenign hereditary non-progressive chorea of early onset. Clinical genetics of the syndrome and report of a new familyNeuropadiatrie19767431438doi: http://dx.doi.org/10.1055/s-0028-10916431036766
    Back to article
  4. 4
    NuttingPAColeBRSchimkeRNBenign, recessively inherited choreo-athetosis of early onsetJ Med Genet19696408410doi: http://dx.doi.org/10.1136/jmg.6.4.4084243813
    Back to article
  5. 5
    SchragAQuinnNPBhatiaKPMarsdenCDBenign hereditary chorea–entity or syndrome?Mov Disord200015280288doi: http://dx.doi.org/10.1002/1531-8257(200003)15:2<280::AID-MDS1011>3.0.CO;2-Q10752577
    Back to article
  6. 6
    de VriesBBArtsWFBreedveldGJHoogeboomJJNiermeijerMFHeutinkPBenign hereditary chorea of early onset maps to chromosome 14qAm J Human Genet200066136142doi: http://dx.doi.org/10.1086/30272510631144
    Back to article
  7. 7
    FernandezMRaskindWMatsushitaMWolffJLipeHBirdTHereditary benign chorea: Clinical and genetic features of a distinct diseaseNeurology20015710611011445636
    Back to article
  8. 8
    BreedveldGJPercyAKMacDonaldMEet alClinical and genetic heterogeneity in benign hereditary choreaNeurology20025957958412196653
    Back to article
  9. 9
    BreedveldGJvan DongenJWDanesinoCet alMutations in TITF-1 are associated with benign hereditary choreaHum Mol Gen20021197197911971878
    Back to article
  10. 10
    KrudeHSchutzBBiebermannHet alChoreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiencyJ Clin Invest2002109475480doi: http://dx.doi.org/10.1172/JCI1434111854319
    Back to article
  11. 11
    HarperPSBenign hereditary chorea. Clinical and genetic aspectsClin Gen1978138595doi: http://dx.doi.org/10.1111/j.1399-0004.1978.tb04133.x
    Back to article
  12. 12
    Kleiner-FismanGLangAEBenign hereditary chorea revisited: A journey to understandingMov Disord20072222972305quiz 2452, doi: http://dx.doi.org/10.1002/mds.2164417702033
    Back to article
  13. 13
    GrasDJonardLRozeEet alBenign hereditary chorea: Phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 geneJ Neurol, Neurosurg, Psychiatry201283956962doi: http://dx.doi.org/10.1136/jnnp-2012-30250522832740
    Back to article
  14. 14
    PeallKJLumsdenDKneenRet alBenign hereditary chorea related to NKX2.1: Expansion of the genotypic and phenotypic spectrumDev Med Child Neurol201456642648doi: http://dx.doi.org/10.1111/dmcn.1232324171694
    Back to article
  15. 15
    CarreASzinnaiGCastanetMet alFive new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: Rescue by PAX8 synergism in one caseHum Mol Gen20091822662276doi: http://dx.doi.org/10.1093/hmg/ddp16219336474
    Back to article
  16. 16
    InzelbergRWeinbergerMGakEBenign hereditary chorea: An updateParkinsonism Relat Disord201117301307doi: http://dx.doi.org/10.1016/j.parkreldis.2011.01.00221292530
    Back to article
  17. 17
    McMichaelGHaanEGardnerAet alNKX2-1 mutation in a family diagnosed with ataxic dyskinetic cerebral palsyEur J Med Genet201356506509doi: http://dx.doi.org/10.1016/j.ejmg.2013.07.00323911641
    Back to article
  18. 18
    GlikAVuillaumeIDevosDInzelbergRPsychosis, short stature in benign hereditary chorea: A novel thyroid transcription factor-1 mutationMov Disord20082317441747doi: http://dx.doi.org/10.1002/mds.2221518661567
    Back to article
  19. 19
    SuchowerskyOHaydenMRMartinWRStoesslAJHildebrandAMPateBDCerebral metabolism of glucose in benign hereditary choreaMov Disord198613344doi: http://dx.doi.org/10.1002/mds.8700101052973557
    Back to article
  20. 20
    SchadyWMearaRJHereditary progressive chorea without dementiaJ Neurol Neurosurg Psychiatry198851295297doi: http://dx.doi.org/10.1136/jnnp.51.2.2952964512
    Back to article
  21. 21
    RosatiABertiBMelaniFCelliniEProcopioEGuerriniRRecurrent drop attacks in early childhood as presenting symptom of benign hereditary chorea caused by TITF1 gene mutationsDev Med Child Neurol20141120doi: http://dx.doi.org/10.1111/dmcn.12644
    Back to article
  22. 22
    AsmusFHorberVPohlenzJet alA novel TITF-1 mutation causes benign hereditary chorea with response to levodopaNeurology2005641952195415955952
    Back to article
  23. 23
    CostaMCCostaCSilvaAPet alNonsense mutation in TITF1 in a Portuguese family with benign hereditary choreaNeurogenetics20056209215doi: http://dx.doi.org/10.1007/s10048-005-0013-116220345
    Back to article
  24. 24
    DoyleDAGonzalezIThomasBScavinaMAutosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1J Pediatr200414519019315289765
    Back to article
  25. 25
    SleighGLindenbaumRHBenign (non-paroxysmal) familial chorea. Paediatric perspectivesArch Dis Child198156616621doi: http://dx.doi.org/10.1136/adc.56.8.6166455970
    Back to article
  26. 26
    LeliDAFurlowTWJrFalgoutJCBenign familial chorea: An association with intellectual impairmentJ Neurol Neurosurg Psychiatry198447471474doi: http://dx.doi.org/10.1136/jnnp.47.5.4716736977
    Back to article
  27. 27
    HagemanGIppelPFvan HoutMSRozeboomARA Dutch family with benign hereditary chorea of early onset: Differentiation from Huntington’s diseaseClin Neurol Neurosurg1996981651708836592
    Back to article
  28. 28
    SalvatoreEDi MaioLFillaAet alBenign hereditary chorea: Clinical and neuroimaging features in an Italian familyMov Disord20102514911496doi: http://dx.doi.org/10.1002/mds.2306520544814
    Back to article
  29. 29
    MoyaCMPerez de NanclaresGCastanoLet alFunctional study of a novel single deletion in the TITF1/NKX2.1 homeobox gene that produces congenital hypothyroidism and benign chorea but not pulmonary distressJ Clin Endocrinol Metab20069118321841doi: http://dx.doi.org/10.1210/jc.2005-149716507635
    Back to article
  30. 30
    DevriendtKVanholeCMatthijsGde ZegherFDeletion of thyroid transcription factor-1 gene in an infant with neonatal thyroid dysfunction and respiratory failureN Engl J Med199833813171318doi: http://dx.doi.org/10.1056/NEJM1998043033818179565498
    Back to article
  31. 31
    WillemsenMABreedveldGJWoudaSet alBrain-Thyroid-Lung syndrome: A patient with a severe multi-system disorder due to a de novo mutation in the thyroid transcription factor 1 geneEur J Pediatr20051642830doi: http://dx.doi.org/10.1007/s00431-004-1559-x15517377
    Back to article
  32. 32
    NakamuraKSekijimaYNagamatsuKYoshidaKIkedaSA novel nonsense mutation in the TITF-1 gene in a Japanese family with benign hereditary choreaJ Neurolog Sci2012313189192doi: http://dx.doi.org/10.1016/j.jns.2011.09.013
    Back to article
  33. 33
    FerraraAMDe MicheleGSalvatoreEet alA novel NKX2.1 mutation in a family with hypothyroidism and benign hereditary choreaThyroid20081810051009doi: http://dx.doi.org/10.1089/thy.2008.008518788921
    Back to article
  34. 34
    DevosDVuillaumeIde BecdelievreAet alNew syndromic form of benign hereditary chorea is associated with a deletion of TITF-1 and PAX-9 contiguous genesMov Disord20062122372240doi: http://dx.doi.org/10.1002/mds.2113517044090
    Back to article
  35. 35
    DamasioHAntunesLDamasioARFamilial nonprogressive involuntary movements of childhoodAnn Neurol19771602603doi: http://dx.doi.org/10.1002/ana.410010619883778
    Back to article
  36. 36
    LandrieuPBenchetMLTardieuMLapresleJSex-linked, nonprogressive, familial choreaRevue Neurologique19841404324336463497
    Back to article
  37. 37
    KonishiTKonoSFujimotoMet alBenign hereditary chorea: Dopaminergic brain imaging in patients with a novel intronic NKX2.1 gene mutationJ Neurol2013260207213doi: http://dx.doi.org/10.1007/s00415-012-6618-z22825795
    Back to article
  38. 38
    Kleiner-FismanGRogaevaEHallidayWet alBenign hereditary chorea: Clinical, genetic, and pathological findingsAnn Neurol200354244247doi: http://dx.doi.org/10.1002/ana.1063712891678
    Back to article
  39. 39
    KangYHebronHOzbunLMarianoJMinooPJakowlewSBNkx2.1 transcription factor in lung cells and a transforming growth factor-beta1 heterozygous mouse model of lung carcinogenesisMol Carcinog20044021223115264213
    Back to article
  40. 40
    WeirBAWooMSGetzGet alCharacterizing the cancer genome in lung adenocarcinomaNature2007450893898doi: http://dx.doi.org/10.1038/nature0635817982442
    Back to article
  41. 41
    PeallKJKurianMAWardleMet alSGCE and myoclonus dystonia: Motor characteristics, diagnostic criteria and clinical predictors of genotypeJ Neurol201426122962304doi: http://dx.doi.org/10.1007/s00415-014-7488-325209853
    Back to article
  42. 42
    MatheusMGLehmanRKBonilhaLHoldenKRRedefining the pediatric phenotype of X-linked monocarboxylate transporter 8 (MCT8) deficiency: Implications for diagnosis and therapiesJ Child Neurol2015421
    Back to article
  43. 43
    CarapitoRPaulNUntrauMet alA de novo ADCY5 mutation causes early-onset autosomal dominant chorea and dystoniaMov Disord201530423427doi: http://dx.doi.org/10.1002/mds.2611525545163
    Back to article
  44. 44
    VenezianoLParkinsonMHMantuanoEFrontaliMBhatiaKPGiuntiPA novel de novo mutation of the TITF1/NKX2-1 gene causing ataxia, benign hereditary chorea, hypothyroidism and a pituitary mass in a UK family and review of the literatureCerebellum201413588595doi: http://dx.doi.org/10.1007/s12311-014-0570-724930029
    Back to article
  45. 45
    MaccabelliGPichiecchioAGualaAet alAdvanced magnetic resonance imaging in benign hereditary chorea: Study of two familial casesMov Disord20102526702674doi: http://dx.doi.org/10.1002/mds.2328120803509
    Back to article
  46. 46
    MahajnahMInbarDSteinmetzAHeutinkPBreedveldGJStraussbergRBenign hereditary chorea: Clinical, neuroimaging, and genetic findingsJ Child Neurol20072212311234doi: http://dx.doi.org/10.1177/088307380730626117940252
    Back to article
  47. 47
    FonsCRizzuPGarcia-CazorlaAet alTITF-1 gene mutation in a case of sporadic non-progressive chorea. Response to levodopa treatmentBrain Dev201234255257doi: http://dx.doi.org/10.1016/j.braindev.2011.04.00721555194
    Back to article
  48. 48
    IkedaKClarkJCShaw-WhiteJRStahlmanMTBoutellCJWhitsettJAGene structure and expression of human thyroid transcription factor-1 in respiratory epithelial cellsJ Biol Chem199527081088114doi: http://dx.doi.org/10.1074/jbc.270.14.81087713914
    Back to article
  49. 49
    SempereAPAparicioSMolaSPerez-TurJBenign hereditary chorea: Clinical features and long-term follow-up in a Spanish familyParkinsonism Relat Disord201319394396doi: http://dx.doi.org/10.1016/j.parkreldis.2012.08.00622959176
    Back to article
  50. 50
    ShimohataTHaraKSanpeiKet alNovel locus for benign hereditary chorea with adult onset maps to chromosome 8q21.3 q23.3Brain200713023022309doi: http://dx.doi.org/10.1093/brain/awm03617405764
    Back to article
  51. 51
    YoshidaYNunomuraJShimohataTNanjoHMiyataHBenign hereditary chorea 2: Pathological findings in an autopsy caseNeuropathology201232557565doi: http://dx.doi.org/10.1111/j.1440-1789.2011.01288.x22239265
    Back to article
  52. 52
    LazzaroDPriceMde FeliceMDi LauroRThe transcription factor TTF-1 is expressed at the onset of thyroid and lung morphogenesis and in restricted regions of the foetal brainDevelopment1991113109311041811929
    Back to article
  53. 53
    ShimamuraKHartiganDJMartinezSPuellesLRubensteinJLLongitudinal organization of the anterior neural plate and neural tubeDevelopment1995121392339338575293
    Back to article
  54. 54
    KimuraSHaraYPineauTet alThe T/ebp null mouse: Thyroid-specific enhancer-binding protein is essential for the organogenesis of the thyroid, lung, ventral forebrain, and pituitaryGenes Dev1996106069doi: http://dx.doi.org/10.1101/gad.10.1.608557195
    Back to article
  55. 55
    SusselLMarinOKimuraSRubensteinJLLoss of Nkx2.1 homeobox gene function results in a ventral to dorsal molecular respecification within the basal telencephalon: Evidence for a transformation of the pallidum into the striatumDevelopment19991263359337010393115
    Back to article
  56. 56
    ButtSJSousaVHFuccilloMVet alThe requirement of Nkx2-1 in the temporal specification of cortical interneuron subtypesNeuron200859722732doi: http://dx.doi.org/10.1016/j.neuron.2008.07.03118786356
    Back to article
  57. 57
    KleinleinBGrieseMLiebischGet alFatal neonatal respiratory failure in an infant with congenital hypothyroidism due to haploinsufficiency of the NKX2-1 gene: Alteration of pulmonary surfactant homeostasisArch Dis Child Fetal Neonatal Ed201196F453F456doi: http://dx.doi.org/10.1136/adc.2009.18044820584796
    Back to article
  58. 58
    BrunoMDBohinskiRJHuelsmanKMWhitsettJAKorfhagenTRLung cell-specific expression of the murine surfactant protein A (SP-A) gene is mediated by interactions between the SP-A promoter and thyroid transcription factor-1J Biol Chem1995270653165367896788
    Back to article
  59. 59
    BachurskiCJYangGHCurrierTAGronostajskiRMHongDNuclear factor I/thyroid transcription factor 1 interactions modulate surfactant protein C transcriptionMol Cell Biol20032390149024doi: http://dx.doi.org/10.1128/MCB.23.24.9014-9024.200314645514
    Back to article
  60. 60
    GalambosCLevyHCannonCLet alPulmonary pathology in thyroid transcription factor-1 deficiency syndromeAm J Respir Crit Care Med2010182549554doi: http://dx.doi.org/10.1164/rccm.201002-0167CR20203240
    Back to article
  61. 61
    Kleiner-FismanGCalingasanNYPuttMChenJBealMFLangAEAlterations of striatal neurons in benign hereditary choreaMov Disord2005201353135715986422
    Back to article
  62. 62
    IwataniNMabeHDevriendtKKodamaMMiikeTDeletion of NKX2.1 gene encoding thyroid transcription factor-1 in two siblings with hypothyroidism and respiratory failureJ Pediatr2000137272276doi: http://dx.doi.org/10.1067/mpd.2000.10711110931427
    Back to article
  63. 63
    AccorneroSDanesinoCBastianelloSD’ErricoIGualaAChiovatoLDuplication of the pituitary stalk in a patient with a heterozygous deletion of chromosome 14 harboring the thyroid transcription factor-1 geneJ Clin Endocrinol Metab20109535953596doi: http://dx.doi.org/10.1210/jc.2010-062120685887
    Back to article
  64. 64
    UematsuMHaginoyaKKikuchiAet alHypoperfusion in caudate nuclei in patients with brain-lung-thyroid syndromeJ Neurol Sci20123157781doi: http://dx.doi.org/10.1016/j.jns.2011.11.02522166853
    Back to article
  65. 65
    DaleRCGrattan-SmithPNicholsonMPetersGBMicrodeletions detected using chromosome microarray in children with suspected genetic movement disorders: A single-centre studyDev Med Child Neurol201254618623doi: http://dx.doi.org/10.1111/j.1469-8749.2012.04287.x22515636
    Back to article
  66. 66
    TeissierRGuillotLCarreAet alMultiplex ligation-dependent probe amplification improves the detection rate of NKX2.1 mutations in patients affected by brain-lung-thyroid syndromeHorm Res Paediatr201277146151doi: http://dx.doi.org/10.1159/00033721422488412
    Back to article
  67. 67
    HamvasADeterdingRRWertSEet alHeterogeneous pulmonary phenotypes associated with mutations in the thyroid transcription factor gene NKX2-1Chest2013144794804doi: http://dx.doi.org/10.1378/chest.12-250223430038
    Back to article
DOI: https://doi.org/10.5334/tohm.269 | Journal eISSN: 2160-8288
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Language: English
Submitted on: Mar 31, 2015
Accepted on: Jun 8, 2015
Published on: Jul 14, 2015
Published by: Columbia University Libraries/Information Services
In partnership with: Paradigm Publishing Services
Publication frequency: 1 issue per year
Keywords:
Benign Hereditary Chorea,
NKX2.1 mutations,
Brain-Lung-Thyroid disorder

© 2015 Kathryn J. Peall, Manju A. Kurian, published by Columbia University Libraries/Information Services
This work is licensed under the Creative Commons License.

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