Skip to main content
SpringerLink
Log in

Effective long-term subthalamic stimulation in PARK8 positive Parkinson’s disease

  • Letter to the editors
  • Published:
Journal of Neurology Aims and scope Submit manuscript

Abstract

Whether patients with genetically defined Parkinson’s disease (PD) may be particularly eligible to benefit from deep brain stimulation of the nucleus subthalamicus (STN-DBS) is currently the subject of debate. We report on a patient with advanced PD due to R793M missense mutation in the LRRK2 gene successfully treated by STN-DBS. Disease onset was at age 42 with bradykinesia, rigidity and rest tremor. During the course of the disease he developed severe motor fluctuations, dyskinesias, postural instability with falls, but preserved levodopa responsiveness. At age 60 the patient was treated by bilateral DBS of the STN. At one year after surgery a 66% improvement of the UPDRS motor score in the off-medication state was determined. During the long-term follow-up there was sustained benefit with 56% improvement of motor score after 8 years. Our report adds evidence that patients with LRRK2 monogenetic Parkinsonism are well suited candidates for DBS treatment and may indicate a potential genetic predictor for positive long-term effect of STN-DBS treatment.

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. Berg D, Schweitzer KJ, Leitner P, Zimprich A, Lichtner P, Belcredi P, Brussel T, Schulte C, Maass S, Nagele T, Wszolek ZK, Gasser T (2005) Type and frequency of mutations in the LRRK2 gene in familial and sporadic Parkinson’s disease. Brain 128:3000–3011

    PubMed  Google Scholar 

  2. Charles PD, Van Blercom N, Krack P, Lee SL, Xie J, Besson G, Benabid AL, Pollak P (2002) Predictors of effective bilateral subthalamic nucleus stimulation for PD. Neurology 59:932–934

    CAS  PubMed  Google Scholar 

  3. Deuschl G, Schade-Brittinger C, Krack P, Volkmann J, Schafer H, Botzel K, Daniels C, Deutschlander A, Dillmann U, Eisner W, Gruber D, Hamel W, Herzog J, Hilker R, Klebe S, Kloss M, Koy J, Krause M, Kupsch A, Lorenz D, Lorenzl S, Mehdorn HM, Moringlane JR, Oertel W, Pinsker MO, Reichmann H, Reuss A, Schneider G, Schnitzler A, Steude U, Sturm V, Timmermann L, Tronnier V, Trottenberg T, Wojtecki L, Wolf E, Poewe W, Voges J, Grp GPS (2006) A randomized trial of deep-brain stimulation for Parkinson’s disease. New Engl J Med 355:896–908

    Article  CAS  PubMed  Google Scholar 

  4. Lohmann E, Welter ML, Fraix V, Krack P, Lesage S, Laine S, Tanguy ML, Houeto JL, Mesnage V, Pollak P, Durr A, Agid Y, Brice A, Stu FPDG (2008) Are Parkin patients particularly suited for deep-brain stimulation? Movement Disord 23:740–743

    Article  PubMed  Google Scholar 

  5. Mata IF, Wedemeyer WJ, Farrer MJ, Taylor JP, Gallo KA (2006) LRRK2 in Parkinson’s disease: protein domains and functional insights. Trends Neurosci 29:286–293

    Article  CAS  PubMed  Google Scholar 

  6. Moro E, Volkmann J, Konig IR, Winkler S, Hiller A, Hassin-Baer S, Herzog J, Schnitzler A, Lohmann K, Pinsker MO, Voges J, Djarmatic A, Seibler P, Lozano AM, Rogaeva E, Lang AE, Deuschl G, Klein C (2008) Bilateral subthalamic stimulation in Parkin and PINK1 parkinsonism. Neurology 70:1186–1191

    Article  CAS  PubMed  Google Scholar 

  7. Schupbach M, Lohmann E, Anheim M, Lesage S, Czernecki V, Yaici S, Worbe Y, Charles P, Welter ML, Pollak P, Durr A, Agid Y, Brice A (2007) Subthalamic nucleus stimulation is efficacious in patients with parkinsonism and LRRK2 mutations. Movement Disord 22:119–121

    Article  PubMed  Google Scholar 

Download references

Conflict of interest statement

All authors report no disclosures.

Author information

Authors and Affiliations

  1. Center of Neurology and Hertie Institute for Clinical Brain Research, University of Tübingen, Hoppe-Seyler-Str. 3, 72076, Tübingen, Germany

    Sorin Breit, T. Wächter, D. Schmid-Bielenberg, D. Weiss, P. Leitner, T. Gasser & R. Krüger

  2. Department of Neuroradiology, University of Tübingen, Tübingen , Germany

    T. Nägele

  3. Department of Neurosurgery, University of Tübingen, Tübingen, Germany

    D. Freudenstein

Authors
  1. Sorin Breit
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. T. Wächter
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. D. Schmid-Bielenberg
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. D. Weiss
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. P. Leitner
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. T. Nägele
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. D. Freudenstein
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. T. Gasser
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. R. Krüger
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Sorin Breit.

Additional information

S. Breit and T. Wächter contributed equally to this work.

Electronic supplementary material

Below is the link to the electronic supplementary material.

The split video demonstrates the patient on the left side at the 1 year follow-up investigation and on the right side at the 8 years follow-up examination in both, off-medication/off-stimulation and off-medication/on-stimulation condition, respectively. While there is evidence for disease progression the akinetic-rigid syndrome is still remarkably reduced 8 years after implantation of STN-DBS. This is reflected by the clear and considerable improvement of gait and posture as demonstrated in the video. (WMV 16755 kb)

Supplementary Table (100 kb)

Rights and permissions

Reprints and permissions

About this article

Cite this article

Breit, S., Wächter, T., Schmid-Bielenberg, D. et al. Effective long-term subthalamic stimulation in PARK8 positive Parkinson’s disease. J Neurol 257, 1205–1207 (2010). https://doi.org/10.1007/s00415-010-5493-8

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00415-010-5493-8

Keywords

Search

Navigation