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Abstract
Objectives:Early-onset Alzheimer disease (EOAD) diagnosis often represents a challenge because of the high frequency of atypical presentations. Our aim was to describe the clinical features, APOE genotype, and its pathologic correlations of neuropathologic confirmed EOAD.
Methods:Retrospective review of clinical data (age at onset, family history, clinical presentation, diagnostic delay, diagnosis) and APOE genotype of patients with neuropathologically confirmed EOAD (<60 years).
Results:Forty cases were selected. Mean age at onset was 54.5 years (range 46–60). The mean disease duration was 11 years with a mean diagnostic delay of 3.1 years. A total of 37.5% had a nonmemory presentation. Behavioral/executive dysfunction was the most prevalent atypical presentation. Incorrect initial clinical diagnoses were common (53%) in patients with atypical presentations, but rare when anterograde amnesia was the presenting symptom (4%). The incorrect initial clinical diagnoses were 2 behavioral variant frontotemporal lobar degeneration, 2 normal pressure hydrocephalus, 1 semantic dementia, 1 primary progressive aphasia, 1 corticobasal degeneration, 1 pseudodementia with depression, and 1 unclassifiable dementia. APOE genotype was ϵ3/ϵ3 in 59%, with no significant differences between typical and atypical presentations. APOE ϵ4 was 3.3 times more frequent in subjects with family history of AD. A total of 97.5% of the cases presented advanced neurofibrillary pathology. A total of 45% of the patients had concomitant Lewy body pathology although localized in most cases and without a significant clinical correlate.
Conclusion:One third of patients with pathologic confirmed EOAD presented with atypical symptoms. Patients with EOAD with nonamnestic presentations often receive incorrect clinical diagnoses.
Footnotes
Study funding: Supported by the Hospital Clinic-Emili Letang postresidency grant (M.B.).
Supplemental data at www.neurology.org
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- AD
- Alzheimer disease
- CBD
- corticobasal degeneration
- CBS
- corticobasal syndrome
- EOAD
- early-onset Alzheimer disease
- FTLD
- frontotemporal lobar degeneration
- LB
- Lewy body
- LOAD
- late-onset Alzheimer disease
- NPH
- normal pressure hydrocephalus
- NTB/UB/HC
- Neurological Tissue Bank, University of Barcelona–Hospital Clínic
- PCA
- posterior cortical atrophy
- PPA
- primary progressive aphasia
- SemD
- semantic dementia
- Received November 10, 2010.
- Accepted February 10, 2011.
- Copyright © 2011 by AAN Enterprises, Inc.
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