Article
Two novel presenilin 1 gene mutations connected with frontotemporal dementia-like clinical phenotype: genetic and bioinformatic assessment.
Experimental neurology - 1 Jul 2006
Zekanowski Cezary, Golan Maciej P, Krzyśko Krystiana A, Lipczyńska-Łojkowska Wanda, Filipek Sławomir, Kowalska Anna, Rossa Grzegorz, Pepłońska Beata, Styczyńska Maria, Maruszak Aleksandra, Religa Dorota, Wender Mieczysław, Kulczycki Jerzy, Barcikowska Maria, Kuźnicki Jacek
Abstract excerpt
Mutations in the amyloid precursor protein (APP), presenilin 1 (PSEN1) and presenilin 2 (PSEN2) genes are associated with early-onset familial Alzheimer's disease (EOAD). There are several reports describing mutations in PSEN1 in cases with frontotemporal dementia (FTD). We identified two novel mutations in the PSEN1 gene: L226F and L424H. The first mutation was detected in a patient with a clinical diagnosis of...
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