Article
Evaluation of the Clinical Features Accompanied by the Gene Mutations: The 2 Novel PSEN1 Variants in a Turkish Early-onset Alzheimer Disease Cohort.
Alzheimer disease and associated disorders - 1 Jan 2000
Eryilmaz Isil E, Bakar Mustafa, Egeli Unal, Cecener Gulsah, Yurdacan Beste, Colak Dilara K, Tunca Berrin
Abstract excerpt
INTRODUCTION: Early-onset Alzheimer disease (EOAD) is an earlier Alzheimer disease form which is characterized by the mutations in the amyloid precursor protein, presenilin-1/2 (PSEN1/2), and triggering receptor expressed on myeloid cells 2 (TREM2). However, it is still necessary to report mutational screening in multiethnic groups to improve the genetic background of EOAD due to the variant classification...
Topics
- Alzheimer Disease
- Amyloid beta-Protein Precursor
- Cohort Studies
- Female
- Genetic Predisposition to Disease
- Humans
- Male
- Membrane Glycoproteins
- Middle Aged
- Mutation