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. (C) 2004 Movement Disorder Society.

Chronic bilateral subthalamic deep brain stimulation in a patient with homozygous deletion in the parkin gene / Capecci, M., Passamonti, L., Annesi, F., Annesi, G., Bellesi, M., Candiano, I.c., Ricciuti, R., Iacoangeli, M., Scerrati, M., Zappia, M., Tarantino, P., De Marco, E.v., Civitelli, D., Carrideo, S., Provinciali, L., Ceravolo, M.g., Quattrone, A.. - In: MOVEMENT DISORDERS. - ISSN 0885-3185. - STAMPA. - 19:12(2004), pp. 1450-1452. [10.1002/mds.20250]

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

Capecci M;PASSAMONTI, LUCA;Bellesi M;Ricciuti R;Iacoangeli M;Scerrati M;Provinciali L;Ceravolo MG;
2004-01-01

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. (C) 2004 Movement Disorder Society.
2004
Antiparkinson Agents; administration /&/ dosage/adverse effects, Deep Brain Stimulation; methods, Disability Evaluation, Dose-Response Relationship; Drug, Dyskinesia; Drug-Induced; etiology, Exons; genetics, Female, Gene Deletion, Genomic Imprinting, Homozygote, Humans, Levodopa; administration /&/ dosage/adverse effects, Male, Parkinsonian Disorders; drug therapy/genetics/therapy, Polymerase Chain Reaction, Severity of Illness Index, Subthalamic Nucleus, Ubiquitin-Protein Ligases; genetics
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11566/71938
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