Journal article

Authors list: Mueller, Ulrich; Winter, Pia; Bolender, Claus; Nolte, Dagmar

Publication year: 2014

Pages: 109-113

Journal: Journal of Alzheimer's Disease

Volume number: 42

Issue number: 1

ISSN: 1387-2877

eISSN: 1875-8908

DOI Link: https://doi.org/10.3233/JAD-140399

Publisher: SAGE Publications

Abstract: 
Mutations in the gene PSEN2 are a rare cause of early onset Alzheimer's disease (EOAD). PSEN2 sequence variants are often only found in one patient and pathogenicity cannot be formally documented. Here we describe a previously unrecognized sequence change (c.376G> A) in PSEN2 in an EOAD patient and her likewise affected mother. This change results in the exchange of amino acid glutamic acid (E) by lysine (K) at position 126 of the protein (p.E126K). Pathogenicity of the mutation is shown by segregation with disease, evolutionary conservation of E126, and in silico analysis of the mutation.

Harvard Citation style: Mueller, U., Winter, P., Bolender, C. and Nolte, D. (2014) Previously Unrecognized Missense Mutation E126K of PSEN2 Segregates with Early Onset Alzheimer's Disease in a Family, Journal of Alzheimer's Disease, 42(1), pp. 109-113. https://doi.org/10.3233/JAD-140399

APA Citation style: Mueller, U., Winter, P., Bolender, C., & Nolte, D. (2014). Previously Unrecognized Missense Mutation E126K of PSEN2 Segregates with Early Onset Alzheimer's Disease in a Family. Journal of Alzheimer's Disease. 42(1), 109-113. https://doi.org/10.3233/JAD-140399