Chronic bilateral subthalamic deep brain stimulation in a patient with homozygous deletion in the parkin gene

Movement Disorders : Official Journal of the Movement Disorder Society
Marianna CapecciAldo Quattrone

Abstract

Chronic subthalamic nucleus deep brain stimulation (STN-DBS) is an efficacious treatment for idiopathic Parkinson's disease (PD) that cannot be further improved by medical therapy. We present a case of an individual with juvenile parkinsonism caused by homozygous deletion of exon 3 in the parkin gene with disabling long-term side-effects from levodopa who underwent bilateral STN neuromodulation. Parkin-linked parkinsonism may show clinical features different from sporadic PD, yet it shares levodopa responsiveness. Because levodopa responsiveness is a predictor of STN-DBS efficacy, we argued that this kind of surgical approach might be efficacious in hereditary parkin-linked juvenile parkinsonism. We evaluated clinical and functional assessment before and 12 months after surgery. The results showed that the Unified Parkinson Disease Rating Scales Motor score improved by 84% in our patient, the levodopa equivalent daily dose medication (LEDD) was reduced by 66%, and, finally, disabling and severe dyskinesias disappeared.

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Citations

Sep 26, 2013·Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia·Hee Jin KimBeom S Jeon
Sep 13, 2007·The Neurologist·Drew S Kern, Rajeev Kumar
May 7, 2010·CNS Drugs·Teri R Thomsen, Robert L Rodnitzky
Jan 2, 2010·Neurosurgical Focus·Georgia XiromerisiouGeorgios M Hadjigeorgiou
Jan 30, 2008·Movement Disorders : Official Journal of the Movement Disorder Society·Ebba LohmannUNKNOWN French Parkinson's Disease Genetics study group
Jun 16, 2010·Acta Neurologica Scandinavica·K K JohansenJ O Aasly
Jul 1, 2006·Movement Disorders : Official Journal of the Movement Disorder Society·Anthony E LangValerie Voon
Nov 3, 2006·Movement Disorders : Official Journal of the Movement Disorder Society·Michael SchüpbachAlexis Brice
Nov 11, 2005·Current Opinion in Neurology·Alim Louis BenabidEric Seigneuret
Sep 12, 2019·NPJ Parkinson's Disease·Johanne LigaardLasse Pihlstrøm
Jan 20, 2019·Journal of Neurology·Tomi KuusimäkiValtteri Kaasinen
Jul 10, 2019·Movement Disorders Clinical Practice·Lais Machado de OliveiraRubens Gisbert Cury

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