Skip to main content
SpringerLink
Log in

Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype

  • LETTER TO THE EDITORS
  • Published:
neurogenetics Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

References

  1. Fuchs T, Gavarini S, Saunders-Pullman R, Raymond D, Ehrlich M, Bressman S, Ozelius L (2009) Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia. Nat Genet 41:286–288

    Article  CAS  PubMed  Google Scholar 

  2. Djarmati A, Schneider S, Lohmann K et al (2009) Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study. Lancet Neurol 8:447–452

    Article  CAS  PubMed  Google Scholar 

  3. Bressman S, Raymond D, Fuchs T, Heiman G, Ozelius L, Saunders-Pullman R (2009) Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study. Lancet Neurol 8:441–446

    Article  CAS  PubMed  Google Scholar 

  4. Xiao J, Zhao Y, Bastian R et al (2010) Novel THAP1 sequence variants in primary dystonia. Neurology 74:229–238

    Article  CAS  PubMed  Google Scholar 

  5. Houlden H, Schneider S, Paudel R, Melchers A, Schwingenschuh P, Edwards M, Hardy J, Bhatia K (2010) THAP1 mutations (DYT6) are an additional cause of early-onset dystonia. Neurology 74:846–850

    Article  CAS  PubMed  Google Scholar 

  6. Groen J, Ritz K, Contarino M et al (2010) DYT6 dystonia: mutation screening, phenotype, and response to deep brain stimulation. Mov Disord. doi:10.1002/mds.23285

    PubMed  Google Scholar 

Download references

Acknowledgment

We wish to thank all the clinicians who referred patients to us. We are grateful for the contribution of the patients and their families. We thank Dr. Merle Ruberg for her critical reading of the manuscript, the DNA and Cell bank of Cricm UMR_S975 for sample preparation, and the French Dystonia Network.

Author information

Authors and Affiliations

  1. Département de Génétique et Cytogénétique, AP-HP, Groupe Hospitalier Pitié Salpêtrière, Paris, France

    Fabienne Clot, Eric Leguern, Chan San, Alexandra Durr & Alexis Brice

  2. Fédération des Maladies du Système Nerveux, AP-HP, Groupe Hospitalier Pitié Salpêtrière, Paris, France

    David Grabli, Emmanuel Roze, Marie Vidailhet & Alexis Brice

  3. Université Pierre Marie Curie-Paris-6, CRICM INSERM UMRS975, CNRS UMR 7225, Paris, France

    David Grabli, Agnès Camuzat, Emmanuel Roze, Marie Vidailhet, Alexandra Durr & Alexis Brice

  4. Service de Neurophysiologie Clinique, CHU de Bordeaux, Pessac, Bordeaux, France

    Pierre Burbaud

  5. Service de Neurologie, CHU de Grenoble, Grenoble, France

    Magali Aya & Pierre Pollak

  6. INSERM, CIC0004, CHU Nantes, Nantes, France

    Pascal Derkinderen & Philippe Damier

  7. Service de Neurologie, CNRS FRE 3291, CHU de Lille, Lille, France

    Luc Defebvre

  8. Service de Neurologie, CNRS FRE 3291, CHU d’Amiens, Amiens, France

    Pierre Krystkowiak

Authors
  1. Fabienne Clot
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. David Grabli
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Pierre Burbaud
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Magali Aya
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Pascal Derkinderen
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Luc Defebvre
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Philippe Damier
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Pierre Krystkowiak
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. Pierre Pollak
    View author publications

    You can also search for this author in PubMed Google Scholar

  10. Eric Leguern
    View author publications

    You can also search for this author in PubMed Google Scholar

  11. Chan San
    View author publications

    You can also search for this author in PubMed Google Scholar

  12. Agnès Camuzat
    View author publications

    You can also search for this author in PubMed Google Scholar

  13. Emmanuel Roze
    View author publications

    You can also search for this author in PubMed Google Scholar

  14. Marie Vidailhet
    View author publications

    You can also search for this author in PubMed Google Scholar

  15. Alexandra Durr
    View author publications

    You can also search for this author in PubMed Google Scholar

  16. Alexis Brice
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Fabienne Clot.

Electronic supplementary material

Below is the link to the electronic supplementary material.

Supplementary Fig. 1

Detection of five different mutations in THAP1 gene in six patients by direct sequencing. Pedigrees and sequence electropherograms of the five THAP1 mutations. The mutation nomenclature is based on the THAP1 reference transcript NM_018105.2 (A). Alignment of the regions flanking the amino acid change in THAP1 protein homologues (B). (DOC 448 kb)

Rights and permissions

Reprints and permissions

About this article

Cite this article

Clot, F., Grabli, D., Burbaud, P. et al. Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype. Neurogenetics 12, 87–89 (2011). https://doi.org/10.1007/s10048-010-0264-3

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10048-010-0264-3

Keywords

Search

Navigation