A pathogenic PSEN2 p.His169Asn mutation associated with early-onset Alzheimer's disease.

ABSTRACT:

Background

Autosomal dominant early-onset Alzheimer's disease (EOAD) is genetically heterogeneous and has been associated with mutations in 3 different genes, coding for amyloid precursor protein (APP), presenilin 1 (PSEN1), and presenilin 2 (PSEN2). Most frequent cases are associated with mutations in the PSEN1 gene, whereas mutations in the APP and PSEN2 genes are rare.

Methods

Patient who presented progressive memory decline in her 50s was enrolled in this study. A broad battery of neuropsychological tests and neuroimaging was applied to make the diagnosis. Genetic tests were performed in the patient to evaluate possible mutations using next-generation sequencing (NGS). The pathogenic nature of missense mutation and its 3D protein structure prediction

SUBMITTER: Giau VV 

PROVIDER: S-EPMC6074827 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature