A pathogenic PSEN1 Trp165Cys mutation associated with early-onset Alzheimer's disease.

ABSTRACT:

Background

Presenilin-1 (PSEN1) is one of the causative genes for early onset Alzheimer's disease (EOAD). Recently, emerging studies reported several novel PSEN1 mutations among Asian. We describe a male with EOAD had a pathogenic PSEN1 mutation.

Case presentation

A 53-year-old male presented with memory decline, followed by difficulty in finding ways. Patient had positive family history, since his mother and one of his brother was also affected with dementia. Brain magnetic resonance imaging (MRI) scan showed mild degree of atrophy of bilateral hippocampus and parietal lobe. ¹⁸F-Florbetaben-PET (FBB-PET) revealed increased amyloid deposition in bilateral frontal, parietal, temporal lobe and precuneus. Whole exome analysis revealed a heterozygous, probably pathoge

SUBMITTER: Van Giau V 

PROVIDER: S-EPMC6685246 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature