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

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

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..

Medienart:	E-Artikel

Erscheinungsjahr:	2023
Erschienen:	2023

Enthalten in:	Zur Gesamtaufnahme - volume:44
Enthalten in:	Neurological sciences - 44(2023), 8 vom: 10. Apr., Seite 2939-2942

Sprache:	Englisch

Beteiligte Personen:	Covolo, Anna [VerfasserIn] Imbalzano, Gabriele [VerfasserIn] Artusi, Carlo Alberto [VerfasserIn] Montanaro, Elisa [VerfasserIn] Ledda, Claudia [VerfasserIn] Bozzali, Marco [VerfasserIn] Rizzone, Mario Giorgio [VerfasserIn] Zibetti, Maurizio [VerfasserIn] Martone, Tiziana [VerfasserIn] Lopiano, Leonardo [VerfasserIn] Romagnolo, Alberto [VerfasserIn]

Links:	Volltext [lizenzpflichtig]

BKL:	44.90$jNeurologie
Themen:	Case report PRKN Parkin gene Parkinson’s disease Subthalamic Deep Brain Stimulation

Anmerkungen:	© Fondazione Società Italiana di Neurologia 2023

doi:	10.1007/s10072-023-06789-7

funding:
Förderinstitution / Projekttitel:

PPN (Katalog-ID):	OLC2144445621

Internformat


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

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