title: Chronic bilateral subthalamic deep brain stimulation in a patient with homozygous deletion in the parkin gene.
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.
authors.affiliation: Dipartimento di Scienze Neurologiche, Università Politecnica delle Marche, Ospedale Regionale Torrette, Ancona, Italy.
authors.forename: Marianna
authors.initials: M
authors.lastname: Capecci
authors.forename: Luca
authors.initials: L
authors.lastname: Passamonti
authors.forename: Ferdinanda
authors.initials: F
authors.lastname: Annesi
authors.forename: Grazia
authors.initials: G
authors.lastname: Annesi
authors.forename: Michele
authors.initials: M
authors.lastname: Bellesi
authors.forename: Innocenza Claudia Cirò
authors.initials: IC
authors.lastname: Candiano
authors.forename: Riccardo
authors.initials: R
authors.lastname: Ricciuti
authors.forename: Maurizio
authors.initials: M
authors.lastname: Iacoangeli
authors.forename: Massimo
authors.initials: M
authors.lastname: Scerrati
authors.forename: Mario
authors.initials: M
authors.lastname: Zappia
authors.forename: Patrizia
authors.initials: P
authors.lastname: Tarantino
authors.forename: Elvira Valeria
authors.initials: EV
authors.lastname: De Marco
authors.forename: Donatella
authors.initials: D
authors.lastname: Civitelli
authors.forename: Sara
authors.initials: S
authors.lastname: Carrideo
authors.forename: Leandro
authors.initials: L
authors.lastname: Provinciali
authors.forename: Maria Gabriella
authors.initials: MG
authors.lastname: Ceravolo
authors.forename: Aldo
authors.initials: A
authors.lastname: Quattrone
mesh_terms: D000978:Antiparkinson Agents / Q000008:administration & dosage / Q000009:adverse effects; D046690:Deep Brain Stimulation / Q000379:methods*; D004185:Disability Evaluation; D004305:Dose-Response Relationship, Drug; D004409:Dyskinesia, Drug-Induced / Q000209:etiology; D005091:Exons / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D018392:Genomic Imprinting; D006720:Homozygote; D006801:Humans; D007980:Levodopa / Q000008:administration & dosage / Q000009:adverse effects; D008297:Male; D020734:Parkinsonian Disorders / Q000188:drug therapy / Q000235:genetics* / Q000628:therapy*; D016133:Polymerase Chain Reaction; D012720:Severity of Illness Index; D020531:Subthalamic Nucleus; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
chemical_list: D000978:Antiparkinson Agents; D007980:Levodopa; D044767:Ubiquitin-Protein Ligases; C111567:parkin protein