Internal Medicine
Online ISSN : 1349-7235
Print ISSN : 0918-2918
ISSN-L : 0918-2918
Electroconvulsive Therapy Can Prevent a Worsening of Psychosis and Dystonic Voice in PRKN-associated Parkinson's Disease
Toshiki TezukaKensuke DaidaShinichiro NakajimaMika KonishiYoshihiro NiheiManabu FunayamaKimberley J BillingsleyCornelis BlauwendraatNobutaka HattoriHiroyuki UchidaJin NakaharaMorinobu Seki
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JOURNAL OPEN ACCESS Advance online publication

Article ID: 5402-25

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Abstract

Electroconvulsive therapy (ECT), an established treatment for psychiatric disorders, shows promise in alleviating both motor and non-motor symptoms in patients with Parkinson's disease (PD). We herein report a case of PRKN-associated PD presenting with characteristic psychosis and dystonic voice, which was effectively managed with maintenance ECT. A genetic analysis initially identified a single heterozygous PRKN deletion using multiple ligation-probe amplification. Subsequent Oxford Nanopore technology long-read sequencing revealed a second pathogenic variant, confirming a compound heterozygous PRKN mutation. This case highlights the utility of long-read sequencing in resolving genetic diagnoses and the potential of maintenance ECT for managing complex PD phenotypes.

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© 2025 by The Japanese Society of Internal Medicine

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