Journal
JOURNAL OF ALZHEIMERS DISEASE
Volume 68, Issue 2, Pages 551-558Publisher
IOS PRESS
DOI: 10.3233/JAD-181108
Keywords
De novo PSEN1 mutation; diagnostic approach; early-onset Alzheimer's disease; early-onset dementia with negative family history
Categories
Funding
- National Natural Science Foundation of China [81470074, 81601099]
- Clinical funding from Beijing Municipal Science and Technology Committee [Z141107002514117]
- Beijing Municipal Government [PXM2017_026283_000002]
- Scientific Research Foundation for the Returned Overseas Chinese Scholars, State Education Ministry [1098]
- Beijing Talents Fund [2015000026833ZK06]
- Support Project of High-level Teachers in Beijing Municipal Universities in the Period of 13th Five-year Plan [CIT TCD201804091]
- Beijing Municipal Administration of Hospitals Youth Program [QML20150801]
- Clinical-Basic Medicine Cooperation Fund of Capital Medical University [16JL28]
Ask authors/readers for more resources
For early-onset Alzheimer's disease (EOAD) cases with unclear family history, most cases are sporadic. Some cases are positive in genetic findings, that is, either incomplete penetrance or de novo mutation. We aimed to focus on EOAD cases with de novo mutations. Case reports and literature review were performed. The implication for diagnostic approach of early-onset dementia with negative family history was developed. We reported two Chinese EOAD cases with de novo mutations. The genotype PSEN1 G206S appeared to correlate with the phenotype of EOAD with pure cognitive problems. The second case had a PSEN1 M233V mutation with an earlier age of onset of 25 with cognitive decline, parkinsonism, and epilepsy. Although EOAD due to de novo mutations is not common, it should be considered in patients with a phenotype of progressive cognitive decline and amyloid positivity on PET or CSF analysis.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available