Late-onset presentation and phenotypic heterogeneity of the rare R377W PSEN1 mutation.
Eur J Neurol
; 27(12): 2630-2634, 2020 12.
Article
in En
| MEDLINE
| ID: mdl-32894632
ABSTRACT
BACKGROUND AND PURPOSE:
Mutations in the PSEN1 gene are the most common cause of autosomal-dominant Alzheimer's disease and have been associated with the earliest disease onset. We describe an unusual presentation of the rare R377W PSEN1 mutation with a late age of onset, and we provide for the first time in vivo pathological evidence for this mutation.METHODS:
A 71-year-old female patient with progressive cognitive decline in the past 3 years and positive family history for dementia underwent neurological evaluation, neuropsychological testing, lumbar puncture, conventional brain imaging, amyloid-positron emission tomography (PET) and extensive genetic screening with a next-generation sequencing technique.RESULTS:
The diagnostic workup revealed mixed behavioural and amnestic disease features on neuropsychological tests, magnetic resonance imaging, and 18-fluorodeoxyglucose (FDG)-PET. Amyloid-PET detected amyloid deposition in the frontal areas, in the parietal lobes and the precunei. The genetic screening revealed the presence of the rare R377W mutation in the PSEN1 gene.CONCLUSIONS:
Extensive genetic screening is also advisable for late-onset presentations of Alzheimer's disease, especially in the presence of a positive family history or atypical clinical features.Key words
Full text:
1
Database:
MEDLINE
Main subject:
Alzheimer Disease
Limits:
Aged
/
Female
/
Humans
Language:
En
Year:
2020
Type:
Article