Diagnostic Approach of Early-Onset Dementia with Negative Family History: Implications from Two Cases of Early-Onset Alzheimer's Disease with De Novo PSEN1 Mutation

Journal of Alzheimer's Disease : JAD
Jia LiuSerge Gauthier

Abstract

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.

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Citations

Jul 1, 2020·The Cerebellum·Yury SeliverstovSergey Illarioshkin
Oct 3, 2020·Case Reports in Neurological Medicine·Aljoharah AlakkasJonathan Bui
Mar 30, 2021·International Journal of Geriatric Psychiatry·Aamira J HuqIngrid M Winship
Jun 13, 2021·Nature Reviews. Neurology·Michele RomoliCinzia Costa
Apr 16, 2021·Current Alzheimer Research·Gayane AghakhanyanHenryk Barthel
Nov 30, 2021·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Yueting ChenWei Luo

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