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Does corticobasal degeneration exist? A clinicopathological re-evaluation
Abstract
The pathological findings of corticobasal degeneration are associated with several distinct clinical syndromes, and the corticobasal syndrome has been linked with a number of diverse pathologies. We have reviewed all the archival cases in the Queen Square Brain Bank for Neurological Disorders over a 20-year period with either a clinical diagnosis of corticobasal syndrome or pathological diagnosis of corticobasal degeneration in an attempt to identify the main diagnostic pitfalls. Of 19 pathologically confirmed corticobasal degeneration cases, only five had been diagnosed correctly in life (sensitivity=26.3%) and four of these had received an alternative earlier diagnosis. All five of these had a unilateral presentation, clumsy useless limb, limb apraxia and myoclonus, four had cortical sensory impairment and focal limb dystonia and three had an alien limb. Eight cases of corticobasal degeneration had been clinically diagnosed as progressive supranuclear palsy, all of whom had vertical supranuclear palsy and seven had falls within the first 2 years. On the other hand, of 21 cases with a clinical diagnosis of corticobasal syndrome, only five had corticobasal degeneration pathology, giving a positive predictive value of 23.8%; six others had progressive supranuclear palsy pathology, five had Alzheimer's disease and the remaining five had other non-tau pathologies. Corticobasal degeneration can present very commonly with a clinical picture closely resembling classical progressive…
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“This phenotypic variability results in <50% of patients with CBS having CBD at autopsy567.”
From Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy (2015) · cites this paper as [6]
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Metadata
- Authors
- Ling, H., O'Sullivan, S. S., Holton, J. L., Revesz, T., Massey, L. A., Williams, D. R., Paviour, D. C., & Lees, A. J.
- Affiliations
- National Hospital for Neurology and Neurosurgery (GB)
- UCL Queen Square Institute of Neurology (GB)
- Venue
- Brain
- Publisher
- Oxford University Press (OUP)
- Published
- 2010-06-28
- Volume
- 133
- Issue
- 7
- Pages
- 2045-2057
- ISSN
- 0006-8950 (ISSN-L)
- 1460-2156
- OpenAlex
- W2103019844
- Cited by
- 394
- References
- 63
- Citations by year
- 2026: 13 · 2025: 14 · 2024: 18 · 2023: 16 · 2022: 18 · 2021: 22 · 2020: 25 · 2019: 30 · 2018: 23 · 2017: 33 · 2016: 20 · 2015: 25 · 2014: 38 · 2013: 30 · 2012: 29
- FWCI
- 21.46
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Brain (publishedVersion)
- PubMed (publishedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Topics
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Health Sciences › Medicine › Clinical Neurology › Parkinson's Disease Mechanisms and Treatments
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Alzheimer's disease research and treatments
- Keywords
- corticobasal degeneration, corticobasal syndrome, progressive supranuclear palsy, Richardson's syndrome, misdiagnosis, vertical supranuclear gaze palsy, limb apraxia, myoclonus, limb dystonia
- MeSH terms
- Aged, Aged, 80 and over, Basal Ganglia, Basal Ganglia Diseases, Cerebral Cortex, Female, Humans, Male, Middle Aged, Retrospective Studies, Supranuclear Palsy, Progressive, Neurodegenerative Diseases
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