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15-Year Subthalamic Deep Brain Stimulation outcome in a Parkinson’s disease patient with Parkin gene mutation: a case report

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Abstract

Introduction

Parkinson’s Disease (PD) patients with Parkin gene (PRKN) mutations show good response to subthalamic deep brain stimulation (STN-DBS). Currently, the longest follow-up available of these patients is 6 years. We report a very long-term outcome (more than 15 years) of a STN-DBS-treated patient with a compound heterozygous deletion of exons 3 and 11 of the PRKN gene.

Case report

In 1993, a 39-year-old male was diagnosed with PD after the onset of resting tremor. Levodopa was started, and during the following 10 years, he reported good motor symptoms control, with only mild modification of levodopa intake and pramipexole introduction. In 2005, he developed disabling motor fluctuations and dyskinesia. In 2007, he underwent bilateral STN-DBS, with a marked improvement of motor symptoms and fluctuations during the following years. After 6 years, he reported mild motor fluctuations, improved after stimulation and treatment modifications. After 10 years he showed diphasic dyskinesias, feet dystonia, postural instability, and gambling (resolved after pramipexole discontinuation). In 2018, he developed a non-amnestic single-domain mild cognitive impairment (MCI). In 2023, after more than 15 years of STN-DBS, motor symptoms and fluctuations are still well controlled. He reports mild dysphagia, mild depression, and multiple-domain MCI. His quality of life is better than before surgery, and he still reports a subjective significant improvement from STN-DBS.

Conclusion

Confirming the very long-term efficacy of STN-DBS in PRKN-mutated patients, our case report underlines their peculiar suitability for surgical treatment.

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Acknowledgements

We thank our patient and his family for their consent for publication.

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Author notes

  1. Anna Covolo and Gabriele Imbalzano equally contributed as first authors to the manuscript.

  2. Leonardo Lopiano and Alberto Romagnolo equally contributed as last authors to the manuscript.

Authors and Affiliations

  1. Department of Neuroscience “Rita Levi Montalcini”, University of Torino, Via Cherasco 15, 10126, Torino, Italy

    Anna Covolo, Gabriele Imbalzano, Carlo Alberto Artusi, Claudia Ledda, Marco Bozzali, Mario Giorgio Rizzone, Maurizio Zibetti, Tiziana Martone, Leonardo Lopiano & Alberto Romagnolo

  2. Neurology 2 Unit, AOU Città della Salute e della Scienza, Corso Bramante 88, 10126, Torino, Italy

    Anna Covolo, Gabriele Imbalzano, Carlo Alberto Artusi, Elisa Montanaro, Claudia Ledda, Marco Bozzali, Mario Giorgio Rizzone, Maurizio Zibetti, Leonardo Lopiano & Alberto Romagnolo

  3. Department of Neuroscience, Brighton & Sussex Medical School, University of Sussex, Brighton, East Sussex, UK

    Marco Bozzali

Authors
  1. Anna Covolo
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  2. Gabriele Imbalzano
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  3. Carlo Alberto Artusi
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  4. Elisa Montanaro
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  5. Claudia Ledda
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  7. Mario Giorgio Rizzone
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  8. Maurizio Zibetti
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  9. Tiziana Martone
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  10. Leonardo Lopiano
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  11. Alberto Romagnolo
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Corresponding author

Correspondence to Alberto Romagnolo.

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Oral and written informed consent were obtained from the patient for publication of this case.

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Covolo, A., Imbalzano, G., Artusi, C.A. et al. 15-Year Subthalamic Deep Brain Stimulation outcome in a Parkinson’s disease patient with Parkin gene mutation: a case report. Neurol Sci 44, 2939–2942 (2023). https://doi.org/10.1007/s10072-023-06789-7

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  • DOI: https://doi.org/10.1007/s10072-023-06789-7

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