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A Novel DYT-5 Mutation with Phenotypic Variability within a Colombian Family Cover

A Novel DYT-5 Mutation with Phenotypic Variability within a Colombian Family

Tremor and Other Hyperkinetic Movements
Volume 3 (2013): Issue 0
By: Oscar Bernal-Pacheco,  Genko Oyama,  Angela Briton,  Andrew B. Singleton,  Hubert H. Fernandez,  Ramon L. Rodriguez,  Irene A. Malaty and  Michael S. Okun  
Open Access
|Oct 2013

References

  1. 1
    SegawaMHosakaAMiyagawaFNomuraYImaiHHereditary progressive dystonia with marked diurnal fluctuationAdv Neurol197614215233945938
    Back to article
  2. 2
    SegawaMHereditary progressive dystonia with marked diurnal fluctuationBrain Dev20113319520110.1016/j.braindev.2010.10.01521094587
    Back to article
  3. 3
    NygaardTGWilhelmsenKCRischNJet alLinkage mapping of dopa-responsive dystonia (DRD) to chromosome 14qNat Genet1993538639110.1038/ng1293-3868298648
    Back to article
  4. 4
    TassinJDurrABonnetAMet alLevodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations?Brain20001231112112110.1093/brain/123.6.111210825351
    Back to article
  5. 5
    NemethAHThe genetics of primary dystonias and related disordersBrain200212569572110.1093/brain/awf09011912106
    Back to article
  6. 6
    SteinbergerDTopkaHFischerDMullerUGCH1 mutation in a patient with adult-onset oromandibular dystoniaNeurology19995287787910.1212/WNL.52.4.87710078749
    Back to article
  7. 7
    IchinoseHOhyeTTakahashiEet alHereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I geneNat Gen1994823624210.1038/ng1194-236
    Back to article
  8. 8
    KongCKKoCHTongSFLamCWAtypical presentation of dopa-responsive dystonia:generalized hypotonia and proximal weaknessNeurology2001571121112410.1212/WNL.57.6.112111571350
    Back to article
  9. 9
    Trender-GerhardISweeneyMGSchwingenschuhPet alAutosomal-dominant GTPCH1-deficient DRD:clinical characteristics and long-term outcome of 34 patientsJ Neurol Neurosurg Psychiatry20098083984510.1136/jnnp.2008.15586119332422
    Back to article
  10. 10
    NygaardTGWaranSPLevineRANainiABChutorianAMDopa-responsive dystonia simulating cerebral palsyPediatr Neurol19941123624010.1016/0887-8994(94)90109-07880338
    Back to article
  11. 11
    BonifatiVDe MicheleGLückingCBet alThe parkin gene and its phenotype. Italian PD Genetics Study Group, French PD Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's DiseaseNeurol Sci200122515210.1007/s10072017004211487197
    Back to article
  12. 12
    IchinoseHSuzukiTInagakiHOhyeTNagatsuTMolecular genetics of dopa-responsive dystoniaBiol Chem19993801355136410.1515/BC.1999.17510661862
    Back to article
  13. 13
    SteinbergerDWeberYKorinthenbergRet alHigh penetrance and pronounced variation in expressivity of GCH1 mutations in five families with dopa-responsive dystoniaAnn Neurol19984363463910.1002/ana.4104305129585358
    Back to article
  14. 14
    SegawaMAutosomal dominant GTP cyclohydrolase I (AD GCH 1) deficiency (Segawa disease, dystonia 5;DYT 5)Chang Gung Med J20093211119292934
    Back to article
DOI: https://doi.org/10.5334/tohm.134 | Journal eISSN: 2160-8288
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Language: English
Submitted on: Oct 15, 2012
Accepted on: Sep 9, 2013
Published on: Oct 10, 2013
Published by: Columbia University Libraries/Information Services
In partnership with: Paradigm Publishing Services
Publication frequency: 1 issue per year
Keywords:
DRD,
dopamine,
Parkinson’s disease,
dystonia,
genetics

© 2013 Oscar Bernal-Pacheco, Genko Oyama, Angela Briton, Andrew B. Singleton, Hubert H. Fernandez, Ramon L. Rodriguez, Irene A. Malaty, Michael S. Okun, published by Columbia University Libraries/Information Services
This work is licensed under the Creative Commons License.

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