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The phenotype of <jats:italic>PS<\/jats:italic>1 N<jats:sup>135<\/jats:sup>D is an early\u2010onset (34\u201338 years) disease. The mutation forms part of, and extends, the \u03b1\u2010helical array of mutations in transmembrane 2 of the presenilins and leads to the suggestion that disruption of this helical face is the molecular insult that leads to disease.<\/jats:p>","DOI":"10.1002\/ana.410420121","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T15:02:27Z","timestamp":1104591747000},"page":"124-128","source":"Crossref","is-referenced-by-count":25,"title":["Early\u2010onset Alzheimer's disease with a presenilin\u20101 mutation at the site corresponding to the volga German presenilin\u20102 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