Inherited Prion Disease with a 5-octapeptide Repeat Insertion in the PRNP Gene Presenting with Familial Juvenile Dementia.

IF 1.1 4区 医学 Q3 MEDICINE, GENERAL & INTERNAL
Internal Medicine Pub Date : 2025-09-15 Epub Date: 2025-03-08 DOI:10.2169/internalmedicine.5143-24
Masafumi Nishikawa, Akitoshi Takeda, Naotaka Miyazawa, Norikazu Hara, Kazunari Ishii, Takeshi Ikeuchi, Yoshiaki Itoh
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引用次数: 0

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.

PRNP基因中5-八肽重复插入的遗传性朊病毒疾病表现为家族性青少年痴呆:一例报告。
一名47岁男性,其母亲有少年痴呆家族史,表现为记忆丧失和认知能力下降。神经心理测试显示定向、工作记忆和失用症受损。磁共振成像显示弥漫性脑萎缩,氟脱氧葡萄糖正电子发射断层扫描(PET)显示双侧顶叶、扣带回后回和楔前叶代谢低下,提示阿尔茨海默病。然而,淀粉样蛋白- β和tau PET扫描呈阴性。基因检测显示在朊病毒蛋白基因中有一个异常的重复插入,确认遗传朊病毒疾病。本病例强调了在早发性家族性痴呆的鉴别诊断中考虑遗传性朊病毒疾病的必要性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Internal Medicine
Internal Medicine 医学-医学:内科
CiteScore
1.90
自引率
8.30%
发文量
0
审稿时长
2.2 months
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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