Journalartikel

Jahr der Veröffentlichung: 2014

Seiten: 109-113

Zeitschrift: Journal of Alzheimer's Disease

Bandnummer: 42

Heftnummer: 1

ISSN: 1387-2877

eISSN: 1875-8908

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

Verlag: 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-Zitierstil: 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-Zitierstil: 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