| Literature DB >> 15003276 |
Cezary Zekanowski1, Beata Pepłońska, Maria Styczyńska, Dorota Religa, Anna Pfeffer, Krzysztof Czyzewski, Tomasz Gabryelewicz, Aleksandra Szybińska, Beata Kijanowska-Haładyna, Sławomira Kotapka-Minc, Elzbieta Łuczywek, Anna Barczak, Bogusław Wasiak, Małgorzata Chodakowska-Zebrowska, Izabela Przekop, Jacek Kuźnicki, Maria Barcikowska.
Abstract
Mutations in the presenilin 1 (PSEN1) gene are known to cause nearly 50% of early-onset, familial Alzheimer's disease (AD) cases. To determine whether E318G mutation is related causally to AD in the Polish population E318G mutation frequency was assessed using PCR-RFLP method in a total of 659 subjects: 256 AD patients, 210 healthy, age-matched control subjects, 100 Parkinson's disease patients and 93 centenarians. When the mutation frequencies were compared to healthy controls, no significant differences between the groups were found. It could be concluded that E318G mutation is not related causally to AD in the Polish population, either as a risk factor or a disease causing mutation.Entities:
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Year: 2004 PMID： 15003276 DOI： 10.1016/j.neulet.2003.12.052
Source DB: PubMed Journal: Neurosci Lett ISSN： 0304-3940 Impact factor: 3.046