Chronic bilateral subthalamic deep brain stimulation in a patient with homozygous deletion in the parkin gene.
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.
Capecci
Marianna
M
Dipartimento di Scienze Neurologiche, Università Politecnica delle Marche, Ospedale Regionale Torrette, Ancona, Italy.
Passamonti
Luca
L
Annesi
Ferdinanda
F
Annesi
Grazia
G
Bellesi
Michele
M
Candiano
Innocenza Claudia Cirò
IC
Ricciuti
Riccardo
R
Iacoangeli
Maurizio
M
Scerrati
Massimo
M
Zappia
Mario
M
Tarantino
Patrizia
P
De Marco
Elvira Valeria
EV
Civitelli
Donatella
D
Carrideo
Sara
S
Provinciali
Leandro
L
Ceravolo
Maria Gabriella
MG
Quattrone
Aldo
A
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*
D000978:Antiparkinson Agents; D007980:Levodopa; D044767:Ubiquitin-Protein Ligases; C111567:parkin protein