González David Andrés, Soble Jason R
a Department of Neurology , University of Texas Health Science Center at San Antonio , San Antonio , TX , USA.
b Psychology Service , South Texas Veterans Health Care System , San Antonio , TX.
Clin Neuropsychol. 2017 Apr;31(3):676-689. doi: 10.1080/13854046.2016.1259434. Epub 2016 Nov 22.
Creutzfeldt-Jakob disease (CJD) is a rare, rapidly progressive, and fatal neurodegenerative disease with neuropsychological sequelae. This study highlighted a rare presentation of CJD (e.g. corticobasal syndrome [CBS]), reviewed updated diagnostic criteria and procedures for CJD (e.g. diffusion weighted imaging [DWI], real-time quaking-induced conversion [RT-QuIC]), and discussed differential diagnoses.
Case report methodology focused on a 68-year-old, Hispanic, right-handed man with 11 years of education. He presented with a 1-2-month history of gait and motor difficulties (e.g. rigidity, myoclonus).
After evaluation, a 'cortical ribboning' pattern on DWI and positive RT-QuIC was integrated with performance on neurobehavioral exam (i.e. alien limb phenomenon, unilateral ideomotor apraxia) and neuropsychological testing (i.e. frontal-parietal dysfunction pattern) to reach a diagnosis of sCJD-CBS. The patient expired 3 months after onset of symptoms.
This literature review and case report highlighted the importance of staying abreast of developments in neurological literature and the added value of neuropsychology, when integrated with newer procedures, for confirming and excluding diagnostic considerations.
克雅氏病（CJD）是一种罕见的、快速进展的致命性神经退行性疾病，伴有神经心理学后遗症。本研究强调了CJD的一种罕见表现（如皮质基底节综合征[CBS]），回顾了CJD的最新诊断标准和程序（如扩散加权成像[DWI]、实时震颤诱导转化[RT-QuIC]），并讨论了鉴别诊断。
病例报告方法聚焦于一名68岁、西班牙裔、右利手男性，其接受过11年教育。他有1 - 2个月的步态和运动困难病史（如僵硬、肌阵挛）。
经过评估，DWI上的“皮质带”模式和RT-QuIC阳性结果，结合神经行为检查表现（即异己肢体现象、单侧观念运动性失用）和神经心理学测试结果（即额顶叶功能障碍模式），得出散发性CJD - CBS的诊断。患者在症状出现后3个月死亡。
这篇文献综述和病例报告强调了紧跟神经学文献进展的重要性，以及神经心理学与更新程序相结合在确认和排除诊断考虑方面的附加价值。
