文摘
摘要目的:描述一个诊断方法评估疑似快速进行性痴呆患者(RPD)和RPD复习常见的原因。
背景:重叠的临床特征和诊断测试的结果使RPD的病原学诊断,有助于诊断延误,错过了治疗的机会,穷人和病人的结果。有必要改善RPD患者的诊断准确性。
设计/方法:RPD患者前瞻性和评估在住院环境和门诊专科诊所(内存)从2016 - 2022年两个三级保健中心。病原学诊断被独立分配由两个痴呆专家,整合临床特征和可访问的诊断测试的结果,并引用建立诊断标准。诊断有分歧通过解决盲评估由第三专业需要时。临床病理的相关性评估时使用神经病理和基因数据可用。
结果:225个疑似RPD评估患者,其中154例(68.4%)符合RPD建立标准。age-at-symptom RPD发作中值为66.0年(范围:18.3 - -84.7);46.7%是女性。诊断两分的可靠性(91%协议;科恩的κ= 0.88,p < 0.001)和临床病理的相关性都很出色(100%协议在24 neuropathologic患者或基因数据)。的主要原因是自身免疫性脑炎RPD(82/154, 53.2%),其次是阿尔茨海默病及相关痴呆(45/154,29.2%),包括额颞叶大叶性变性,路易身体疾病和血管性认知障碍。克雅二氏症占30/154例(19.4%)。其他原因包括神经、代谢中断,肿瘤和其他自体免疫/炎症性疾病。
结论:患者的病因学的诊断可以可靠地建立RPD使用可用的临床数据。RPD潜在治疗的原因是常见的强调需要诊断方法,提高识别treatment-responsive患者早期症状。
披露:天已收到博士个人薪酬在5000 - 9999美元的范围为Parabon Nanolabs担任顾问。天已收到博士个人薪酬制度在5000 - 9999美元的范围为礼来公司担任顾问。天已收到博士个人薪酬在500 - 4999美元的范围作为一个编辑,副主编,或编辑顾问委员会成员力学(EBSCO健康)。天已收到博士个人薪酬在10000 - 49999美元的范围为巴罗法作为专家证人。天博士ANI制药公司的股票。天已收到博士研究机构国立卫生研究院/ NIA的支持。天已收到博士研究的机构支持陈扎克伯格倡议。天已收到博士研究的机构阿尔茨海默氏症协会的支持。天已收到博士研究机构国立卫生研究院/研究所的支持。天已收到博士研究的机构的支持疗法。 Dr. Day has received personal compensation in the range of $500-$4,999 for serving as a Presenter at Annual Meeting (CME) with American Academy of Neurology. Dr. Day has received personal compensation in the range of $500-$4,999 for serving as a Content Development (CME) with PeerView, Inc. Dr. Day has received personal compensation in the range of $5,000-$9,999 for serving as a Content Development (CME) with Continuing Education, Inc. Dr. Day has a non-compensated relationship as a Clinical Director with AntiNMDA Receptor Encephalitis Foundation that is relevant to AAN interests or activities. Dr. Tipton has received personal compensation in the range of $500-$4,999 for serving as a Consultant for AbbVie. Dr. Tipton has received personal compensation in the range of $500-$4,999 for serving as a Speaker with Alzheimer’s Tennessee. Dr. Tipton has received personal compensation in the range of $500-$4,999 for serving as a Speaker with Charlotte County Medical Society, Inc. Dr. Lazar has nothing to disclose. Mr. Satyadev has nothing to disclose. Dr. Martens has nothing to disclose. Dr. Dunham has nothing to disclose. Dr. Geschwind has received personal compensation in the range of $500-$4,999 for serving as a Consultant for LifeSci Capital LLC. Dr. Geschwind has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Blade Therapeutics, Inc. . Dr. Geschwind has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Clarion Consulting. Dr. Geschwind has received personal compensation in the range of $5,000-$9,999 for serving as an Expert Witness for MedConnect ProLLC. The institution of Dr. Geschwind has received research support from NIH/NIA R01 AG AG031189. The institution of Dr. Geschwind has received research support from NIH/NIA R01 AG AG062562. The institution of Dr. Geschwind has received research support from Michael J. Homer Family Fund. The institution of Dr. Geschwind has received research support from NIH/NIA CADASIL RF1-R01. Dr. Geschwind has a non-compensated relationship as a Editorial Board with Dementia & Neuropsychologia that is relevant to AAN interests or activities. Dr. Morris has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for CBR International Advisory Board. Dr. Morris has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Cure Alzheimers Fund. Dr. Morris has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for LEADS Steering Commitee. The institution of Dr. Morris has received research support from NIH grants. Dr. Morris has received intellectual property interests from a discovery or technology relating to health care. Dr. Morris has received intellectual property interests from a discovery or technology relating to health care. The institution of Dr. Graff-Radford has received research support from Biogen. The institution of Dr. Graff-Radford has received research support from Lilly. The institution of Dr. Graff-Radford has received research support from Novartis. The institution of Dr. Graff-Radford has received research support from AbbVie. Dr. Graff-Radford has received publishing royalties from a publication relating to health care.
