Electroconvulsive Therapy Can Prevent a Worsening of Psychosis and Dystonic Voice in <i>PRKN</i>-associated Parkinson's Disease

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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Publication Details

Journal
Internal Medicine
Published
2025-04-28
DOI
https://doi.org/10.2169/internalmedicine.5402-25
Primary Topic
Electroconvulsive Therapy Studies
Type
article
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article

Electroconvulsive Therapy Can Prevent a Worsening of Psychosis and Dystonic Voice in PRKN-associated Parkinson's Disease

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Electroconvulsive Therapy Studies
article

Electroconvulsive Therapy Can Prevent a Worsening of Psychosis and Dystonic Voice in PRKN-associated Parkinson's Disease

Kimberley J. Billingsley, Manabu Funayama, Hiroyuki Uchida, Toshiki Tezuka, Yoshihiro Nihei, Jin Nakahara, Shinichiro Nakajima, Kensuke Daida, Cornelis Blauwendraat, Mika Konishi
article en

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.

Internal MedicineVol. 64(21)
National Institutes of Health (US), Keio University (JP), RIKEN Center for Brain Science (JP), Juntendo University (JP), Keio University Hospital (JP), National Institute of Neurological Disorders and Stroke (US), Institute on Aging (US), National Institute on Aging (US)
Good health and well-being
Openalex Percentile: Top 89%
Electroconvulsive Therapy Studies
DOIOpen Access PDFOpenAlex
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