{"title":"Inherited Prion Disease with a 5-octapeptide Repeat Insertion in the PRNP Gene Presenting with Familial Juvenile Dementia.","authors":"Masafumi Nishikawa, Akitoshi Takeda, Naotaka Miyazawa, Norikazu Hara, Kazunari Ishii, Takeshi Ikeuchi, Yoshiaki Itoh","doi":"10.2169/internalmedicine.5143-24","DOIUrl":null,"url":null,"abstract":"<p><p>A 47-year-old man with a family history of juvenile dementia in his mother presented with memory loss and cognitive decline. Neuropsychological tests revealed impaired orientation, working memory, and apraxia. Magnetic resonance imaging revealed diffuse brain atrophy, and fluorodeoxyglucose positron emission tomography (PET) showed hypometabolism in the bilateral parietal lobes, posterior cingulate gyri, and precuneus, suggestive of Alzheimer's disease. However, amyloid-beta and tau PET scans were negative. Genetic testing revealed an abnormal repeat insertion in the prion protein gene, confirming inherited prion disease. This case highlights the need to consider inherited prion disease in the differential diagnosis of early-onset familial dementia.</p>","PeriodicalId":13719,"journal":{"name":"Internal Medicine","volume":" ","pages":"2769-2773"},"PeriodicalIF":1.1000,"publicationDate":"2025-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12508641/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Internal Medicine","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.2169/internalmedicine.5143-24","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/3/8 0:00:00","PubModel":"Epub","JCR":"Q3","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
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Abstract
A 47-year-old man with a family history of juvenile dementia in his mother presented with memory loss and cognitive decline. Neuropsychological tests revealed impaired orientation, working memory, and apraxia. Magnetic resonance imaging revealed diffuse brain atrophy, and fluorodeoxyglucose positron emission tomography (PET) showed hypometabolism in the bilateral parietal lobes, posterior cingulate gyri, and precuneus, suggestive of Alzheimer's disease. However, amyloid-beta and tau PET scans were negative. Genetic testing revealed an abnormal repeat insertion in the prion protein gene, confirming inherited prion disease. This case highlights the need to consider inherited prion disease in the differential diagnosis of early-onset familial dementia.
期刊介绍：
Internal Medicine is an open-access online only journal published monthly by the Japanese Society of Internal Medicine.
Articles must be prepared in accordance with "The Uniform Requirements for Manuscripts Submitted to Biomedical Journals (see Annals of Internal Medicine 108: 258-265, 1988), must be contributed solely to the Internal Medicine, and become the property of the Japanese Society of Internal Medicine. Statements contained therein are the responsibility of the author(s). The Society reserves copyright and renewal on all published material and such material may not be reproduced in any form without the written permission of the Society.
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