DBS is a well-established therapy for advanced Parkinson's disease, but it is unclear whether differential treatment response in PD patients may be influenced by underlying genetic mutations. Although PINK-1 is a relatively common genetic mutation associated with early-onset PD, the outcome of DBS has only been described in two patients with homozygous PINK-1 mutations so far. The patient's medical history and treatment are described, as well as the effects of DBS on their symptoms. Understanding the influence of genetic mutations on DBS outcome is important for informing prognosis and tailoring treatment. PD patients with PINK-1 mutations could be good candidates for DBS.

Motor and non-motor outcomes of subthalamic deep brain stimulation in a case of juvenile PARK-PINK1 / Balestrino, Roberta; Ledda, Claudia; Romagnolo, Alberto; Bozzali, Marco; Giulietti, Giovanni; Montanaro, Elisa; Rizzone, Mario; Zibetti, Maurizio; Artusi, Carlo Alberto; Lopiano, Leonardo. - In: BRAIN STIMULATION. - ISSN 1935-861X. - 14:3(2021), pp. 725-727. [10.1016/j.brs.2021.04.002]

Motor and non-motor outcomes of subthalamic deep brain stimulation in a case of juvenile PARK-PINK1

Giulietti, Giovanni;
2021

Abstract

DBS is a well-established therapy for advanced Parkinson's disease, but it is unclear whether differential treatment response in PD patients may be influenced by underlying genetic mutations. Although PINK-1 is a relatively common genetic mutation associated with early-onset PD, the outcome of DBS has only been described in two patients with homozygous PINK-1 mutations so far. The patient's medical history and treatment are described, as well as the effects of DBS on their symptoms. Understanding the influence of genetic mutations on DBS outcome is important for informing prognosis and tailoring treatment. PD patients with PINK-1 mutations could be good candidates for DBS.
2021
deep brain stimulation; parkinson disease; genetic mutations
01 Pubblicazione su rivista::01f Lettera, Nota
Motor and non-motor outcomes of subthalamic deep brain stimulation in a case of juvenile PARK-PINK1 / Balestrino, Roberta; Ledda, Claudia; Romagnolo, Alberto; Bozzali, Marco; Giulietti, Giovanni; Montanaro, Elisa; Rizzone, Mario; Zibetti, Maurizio; Artusi, Carlo Alberto; Lopiano, Leonardo. - In: BRAIN STIMULATION. - ISSN 1935-861X. - 14:3(2021), pp. 725-727. [10.1016/j.brs.2021.04.002]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/1670316
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