Variably Protease-sensitive Prionopathy in a Middle-aged Man With Rapidly Progressive Dementia.
Variably Protease-sensitive Prionopathy in a Middle-aged Man With Rapidly Progressive Dementia.
复制标题
DOI：
10.1097/wnn.0000000000000276
复制
发表时间：
2021-09-02
期刊：
影响因子：
--
通讯作者：
Auchus AP
中科院分区：
文献类型：
--
作者：
Huang J;Cohen M;Safar J;Auchus AP
可变蛋白水解酶敏感型病毒病(VPSPr)是近年来发现的一种具有独特临床和组织病理学特征的散发性病毒病。我们报告了一位46岁的右撇子男性的VPSPr的临床、影像和神经病理学特征，他表现为进行性认知衰退、行为障碍和超过6个月体重减轻50磅。初步评估显示严重的认知障碍，没有局灶性神经缺陷。他的认知、精神和行为症状迅速发展，在初次就诊12个月后死亡。在他的整个病程中，快速进行性痴呆症的检查并不引人注目，除了脑部MRI弥散加权成像显示持续的弥漫性皮质和丘脑信号异常。散发性克雅氏病被高度怀疑；然而，两个脑电图(相隔8个月)仅显示非特异性脑功能障碍。患者首次就诊时脑脊液14-3-3蛋白呈阴性，8个月后再次呈阴性。他的脑脊液实时抖动诱导转换和总tau水平正常。对他的大脑进行了尸检，神经病理结果证实了VPSPr。我们的病例强调了在评估快速进展性痴呆症患者时，将VPSPr考虑到Pron疾病表型谱中的重要性。
Variably protease-sensitive prionopathy (VPSPr) is a recently described sporadic prion disease with distinctive clinical and histopathological features. We report the clinical, imaging, and neuropathological features of VPSPr in a 46-year-old right-handed man who presented with progressive cognitive decline, behavior disturbances, and a 50-pound weight loss over 6 months. The initial evaluation revealed severe cognitive impairment with no focal neurologic deficits. His cognitive, psychiatric, and behavior symptoms progressed rapidly, and he died 12 months after the initial visit. Throughout his disease course, workup for rapid progressive dementia was unremarkable except that brain MRI diffusion-weighted imaging showed persistent diffuse cortical and thalamic signal abnormalities. Sporadic Creutzfeldt-Jakob disease was highly suspected; however, two EEGs (8 months apart) demonstrated only nonspecific cerebral dysfunction. The patient’s CSF 14-3-3 protein was negative at the initial visit and again 8 months later. His CSF real-time quaking-induced conversion and total tau level were normal. An autopsy of his brain was performed, and the neuropathological findings confirmed VPSPr. Our case underlines the importance of considering VPSPr in the spectrum of prion disease phenotypes when evaluating individuals with rapidly progressive dementia.