Objective: To elucidate the clinical features and natural history of CBD.

Background: Recently, various clinical phenotypes of corticobasal degeneration (CBD) have been reported; on the other hand, the pathological background of corticobasal syndrome (CBS) is broad. Hence, the rate of antemortem diagnosis of CBD is extremely low.

Methods: Clinical evaluations were performed on patients with pathologically-, genetically-, and biochemically-verified CBD during central review and each patient’s clinical information was retrospectively studied. We analyzed the frequency of signs and clinical phenotypes, and the interval from initial symptoms to key clinical milestones. Clinical features observed in over half of patients were selected as key milestones.

Results: We identified 35 pathologically-confirmed patients, from 15 Japanese institutions. The mean age at onset was 65.0 years. The mean disease duration was 8.1 years. At initial presentation, CBS/CBD and progressive supranuclear palsy (PSP) were the most common diagnoses (19%, respectively), followed by Lewy body disease (17%) and Alzheimer’s disease (AD) (11%). CBS/CBD was the most frequent final clinical diagnosis (44%), followed by PSP (28%), AD (8%) and frontotemporal dementia (FTD) (8%). Limb rigidity, gait disturbance, and postural instability or falls were observed in more than 80% of patients with CBD. Dystonia (39%) and myoclonus (20%) were infrequently observed. In higher cortical features, both frontal executive dysfunction and general cognitive impairment were observed in more than 80% of patients, followed by speech and language impairments (77%) and behavioral changes (69%). Apraxia (48%), cortical sensory loss (20%), and the alien-limb sign (10%) were uncommonly observed. The mean intervals from the initial symptoms to onset of key clinical milestones were as follows: gait disturbance, 1.0 years; behavioral changes, 1.2 years; falls, 2.0 years; cognitive impairment, 2.4 years; speech impairment, 2.6 years; supranuclear gaze palsy, 3.1 years; urinary incontinence, 3.3 years; and dysphagia, 4.3 years.

Conclusions: The pathology of CBD was predicted antemortem in only 44% of patients. In patients with CBD, parkinsonism, frontal executive dysfunction, and general cognitive impairment were more commonly observed than the cardinal features of CBS. Behavioral changes appeared in the early stages, although the natural disease course was similar to PSP.

« Back to 2018 International Congress

MDS Abstracts - https://www.mdsabstracts.org/abstract/clinical-features-and-natural-history-of-pathologically-confirmed-corticobasal-degeneration-a-japanese-validation-study-of-cbd-j-vac-study/