Rinsho Shinkeigaku (Clinical Neurology)

Case Report

Inherited Creutzfeldt-Jakob disease with four-octapeptide repeat insertional mutation in the prion gene

Mika Douzono, M.D.1), Yasuyuki Nobuhara, M.D., Ph.D.1), Kyouko Maruta, M.D., Ph.D.1), Yuji Okamoto, M.D., Ph.D.2)3), Yoshito Sonoda, M.D., Ph.D.1) and Hiroshi Takashima, M.D., Ph.D.2)

1) Department of Neurology, National Hospital Organization Minamikyushu Hospital
2) Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences
3) Department of Physical Therapy, School of Health Sciences, Faculty of Medicine, Kagoshima University

We report a case of a 60-year-old man who presented with symptoms of memory loss, gait disorder, and sluggish movement. We considered both Parkinson's disease and multiple system atrophy as possible diagnoses and consequently hospitalized the patient owing to the worsening symptoms and the development of consciousness disorder. During the course of the disease, dementia, loss of consciousness, and movement disorders worsened rapidly within one year after admission, and the patient eventually developed mutism. The significant clinical characteristics of our case included no myoclonus and involuntary tremors in the extremities. There was no periodic synchronous discharge on electroencephalography and cranial MRI with diffusion-weighted images showed no high-intensity findings in cortex. Prion protein genetic analysis identified four repeated insertional mutations in the octapeptide repeat (OPR) region, and the patient was diagnosed with inherited Creutzfeldt-Jakob disease. Cases of OPR insertional mutations are a few in Japan and occur in about 10% of population in Europe. Creutzfeldt-Jakob disease with OPR insertional mutation shows various clinical manifestations and atypical findings on electroencephalography and cranial MRI. Diagnosing for Creutzfeldt-Jakob disease with OPR insertional mutation is important in Prion protein genetic analysis.
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(CLINICA NEUROL, 61: 314−318, 2021)
key words: prion, octapeptide repeat, insertional mutation, Creutzfeldt-Jakob disease

(Received: 13-Oct-20)