In:
Alzheimer's & Dementia, Wiley, Vol. 16, No. S2 ( 2020-12)
Abstract:
Early onset Alzheimer disease (EOAD) (age at onset 〈 65 years) represents an important cause of early‐onset dementia. EOAD has some clinical, pathologic and neuroimaging differences compared to the late onset form of the disease that makes this subset of patients more difficult to diagnose and manage. Our objectives are to describe the clinical‐pathological correlation of a cohort of pathology‐confirmed EOAD, and to compare the findings with our antecedent EOAD cohort. Method Clinical and neuropathological data of subjects from the Neurological Tissue Bank‐Hospital Clínic/IDIBAPS (Barcelona, Spain, 2010‐2017) with postmortem confirmation of AD and age of onset before 60 years were collected retrospectively and analyzed. Patients with PSEN1 , PSEN2 and APP mutations or insufficient clinical data were excluded. The findings were compared with those of our previously reported EOAD cohort (n = 40, 1994‐2009). Result A total of 36 new patients (44% women) were included. The mean age at onset was 55 years (SD ± 3.5), the mean of diagnostic delay was 2.8 years (SD ± 1.8) and the mean duration of disease was 10.4 years (SD ± 4.2). An onset with typical/episodic memory impairment was observed in 83% of the subjects. There was a lack of clinico‐pathological correlation on initial and final clinical diagnosis in 11% and 8%, respectively. Initial misdiagnoses were frontotemporal dementia (n = 1) and non‐neurodegenerative causes (n = 3), while final misdiagnoses were dementia with Lewy bodies (n = 1), frontotemporal dementia (n = 1) and progressive supranuclear palsy (n = 1). Three patients underwent AD biomarker analysis (3 CSF, 1 amyloid PET), and were consistent with AD profile. The former cohort had less typical/amnestic presentations (χ 2 = 4.1, p = 0.04), a trend towards higher percentage of misdiagnoses (23% on initial diagnosis and 20% on final diagnosis, p non‐significant) and a similar diagnostic delay (3.1 years). Neuropathology showed, in addition to AD‐pathology, cerebral amyloid angiopathy in 94% and Lewy‐body copathology in half of patients; these data was similar to the previous cohort. Conclusion There is a trend towards diagnostic improvement in EOAD, that might be explained by improved diagnostic criteria, increasing experience on EOAD, a higher number of typical presentations and the beginning of use of biomarkers, although diagnostic delay and neuropathological findings remain similar.
Type of Medium:
Online Resource
ISSN:
1552-5260
,
1552-5279
Language:
English
Publisher:
Wiley
Publication Date:
2020
detail.hit.zdb_id:
2201940-6
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