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

• Published in: Neurological sciences 2023-08, Vol.44 (8), p.2939-2942
• Main Authors: Covolo, Anna, Imbalzano, Gabriele, Artusi, Carlo Alberto, Montanaro, Elisa, Ledda, Claudia, Bozzali, Marco, Rizzone, Mario Giorgio, Zibetti, Maurizio, Martone, Tiziana, Lopiano, Leonardo, Romagnolo, Alberto
• Format: Article
• Language: English
• Subjects: Brief Communication; Case reports; Cognitive ability; Deep brain stimulation; Dyskinesia; Dysphagia; Dystonia; Exons; Gene deletion; Levodopa; Medicine; Medicine & Public Health; Motor task performance; Movement disorders; Mutation; Neurodegenerative diseases; Neurology; Neuroradiology; Neurosciences; Neurosurgery; Parkin protein; Parkinson's disease; Patients; Point mutation; Pramipexole; Psychiatry; Quality of life; Solitary tract nucleus; Tremor
• ISSN: 1590-1874; 1590-3478
• DOI: 10.1007/s10072-023-06789-7

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.