Bayram Ece, Dickson Dennis W, Reich Stephen G, Litvan Irene
Department of Neurosciences, Parkinson and Other Movement Disorders Center University of California San Diego La Jolla California USA.
Department of Neuroscience Mayo Clinic Jacksonville Florida USA.
Mov Disord Clin Pract. 2020 Feb 14;7(3):267-272. doi: 10.1002/mdc3.12900. eCollection 2020 Apr.
Corticobasal degeneration (CBD) can present with various clinical phenotypes including Richardson's syndrome (RS). Although neuropathological examination can differentiate CBD and progressive supranuclear palsy (PSP) pathologies, no clinical or imaging findings can differentiate CBD from other pathologies when a patient presents with a variant type of CBD. As these various phenotypes are associated with non-CBD pathologies, clinical diagnostic accuracy can be low for such patients.
To present clinical features of two cases with symptom progression in line with PSP-RS, who were diagnosed with CBD based on neuropathological examination.
Baseline, follow up examinations, and detailed neuropathological examinations of two CBD cases presenting and progressing in line with probable PSP-RS are demonstrated.
The two cases clinically diagnosed as probable PSP-RS were shown to have CBD upon neuropathological examination, which is the gold standard for diagnosis of both PSP and CBD.
These cases emphasize the importance of neuropathology for the definite diagnosis, and stress the need for distinctive markers to increase the reliability of clinical diagnosis before death.
皮质基底节变性（CBD）可表现出多种临床表型，包括理查森综合征（RS）。尽管神经病理学检查可以区分CBD和进行性核上性麻痹（PSP）的病理改变，但当患者表现为CBD的变异型时，没有临床或影像学检查结果能够将CBD与其他病理改变区分开来。由于这些不同的表型与非CBD病理改变相关，此类患者的临床诊断准确性可能较低。
呈现两例症状进展符合PSP-RS且经神经病理学检查诊断为CBD的患者的临床特征。
展示了两例符合可能的PSP-RS表现及进展的CBD病例的基线检查、随访检查和详细的神经病理学检查。
经神经病理学检查，这两例临床诊断为可能的PSP-RS的病例被证实患有CBD，神经病理学检查是PSP和CBD诊断的金标准。
这些病例强调了神经病理学对于明确诊断的重要性，并强调需要有特异性标志物以提高生前临床诊断的可靠性。
