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Pathologic heterogeneity in clinically diagnosed corticobasal degeneration
Abstract
Background Early reports suggested that corticobasal degeneration (CBD) is a distinct clinicopathologic entity. Because patients have had a fairly consistent constellation of clinical and laboratory findings, many have proposed that the pathologic diagnosis can be surmised with confidence during life. Objective To analyze the pathologic findings in a large series of cases with clinically diagnosed CBD. Methods Using the medical research linkage system of the Mayo Clinic for the period January 1990 to December 1997, we identified cases diagnosed during life with CBD who subsequently underwent autopsy. All patients had progressive asymmetric rigidity and apraxia (except one with rigidity but no apraxia) with other findings, suggesting additional cortical and basal ganglionic dysfunction. All cases underwent standardized neuropathologic examination with the distribution and severity of the pathologic changes determined for each case and the pathologic diagnoses based on currently accepted criteria. Results Thirteen cases were identified. The pathologic diagnoses were CBD in seven, AD in two, and one each for progressive supranuclear palsy, Pick's disease, nonspecific degenerative changes, and Creutzfeldt-Jakob disease. Two cases had negligible basal ganglia and nigral degeneration despite previously having obvious extrapyramidal signs. However, all patients had focal or asymmetric cortical atrophy with coexisting neuronal loss and gliosis with or without status spongiosis, which…
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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 [7]
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Metadata
- Authors
- Boeve, B. F., Maraganore, D. M., Parisi, J. E., Ahlskog, J. E., Graff-Radford, N., Caselli, R. J., Dickson, D. W., Kokmen, E., & Petersen, R. C.
- Affiliations
- Mayo Clinic (US)
- From the Departments of Neurology (Drs. BoeveMaraganore, Ahlskog, Kokmen, and Petersen), Laboratory Medicine and Pathology (Dr. Parisi), Mayo Clinic, Rochester, MN; Department of Neurology (Dr. Graff-Radford) and the Neuropathology Laboratory (Dr. Dickson), Mayo Clinic, Jacksonville, FL; and Department of Neurology (Dr. Caselli), Mayo Clinic, Scottsdale, AZ.
- Venue
- Neurology
- Published
- 1999-09
- Volume
- 53
- Issue
- 4
- Pages
- 795-795
- ISSN
- 0028-3878 (ISSN-L)
- 1526-632X
- OpenAlex
- W1986748953
- Cited by
- 417
- References
- 41
- Citations by year
- 2026: 7 · 2025: 8 · 2024: 12 · 2023: 8 · 2022: 11 · 2021: 14 · 2020: 22 · 2019: 10 · 2018: 10 · 2017: 21 · 2016: 15 · 2015: 19 · 2014: 21 · 2013: 21 · 2012: 13
- FWCI
- 6.33
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Neurology (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institute on Aging (AG-08031, P30AG008031)
- Topics
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Clinical Neurology › Parkinson's Disease Mechanisms and Treatments
- Keywords
- corticobasal degeneration, clinicopathological correlation, cortical atrophy, basal ganglia degeneration, nigral degeneration, extrapyramidal signs, apraxia, progressive supranuclear palsy, Pick's disease, Creutzfeldt-Jakob disease, gliosis, neuropathologic diagnosis
- MeSH terms
- Aged, Basal Ganglia Diseases, Brain, Female, Humans, Male, Middle Aged, Prospective Studies, Neurodegenerative Diseases
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