Article
Incomplete penetrance in familial Alzheimer's disease with PSEN1 Ala260Gly mutation.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Aug 2020
Piaceri I, Chiari A, Galli C, Bagnoli S, Ferrari C, Saavedra S Trujillo, Molinari M A, Vinceti G, Sorbi S, Nacmias B
Abstract excerpt
Presenilin1 (PSEN1) gene is the most common known genetic cause of early-onset familial Alzheimer's disease. We describe an Italian family with the known p.Ala260Gly mutation in PSEN1 gene. The presence of an asymptomatic 64-year-old male carrying the mutation provides evidence of a possible incomplete penetrance leading to a wider range of age at onset. In order to evaluate whether or not epigenetic...
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