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- Lucie Maréchal, Dominique Campion, and Didier Hannequin.
- Département de neurologie, CHU, INSERM EMI 9906, IFRMP, Faculté de Médecine et de Pharmacie, Rouen.
- Presse Med. 2003 May 10; 32 (16): 756-63.
AbstractTWO SITUATIONS: Familial occurrence of Alzheimer disease is observed in two quite different situations. The more common is the familial aggregation caused by the Apo E4 genotype. Nevertheless, APO E4 as a major risk factor is neither sufficient nor necessary to induce Alzheimer disease. The second possibility are the autosomal dominant forms of Alzheimer disease. Three different genes are concerned. MUTATIONS: The more frequent mutations are found in the Presenilin 1 gene (PS1), mutations in the amyloid precursor protein (APP) are rare and only a few Presenilin 2 gene (PS2) mutations are reported.
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