Also, autosomal dominant genetic mutations observed in familial AD cases (e.g. KM670/671 NL Swedish mutation, A673V mutation; E682K Leuven mutation) and susceptibility loci discovered through genome-wide association studies (e.g. ATXN1) point to increased processing of APP via the amyloidogenic pathway (Citron et al., 1992; Di Fede et al., 2009; Zhou et al., 2011; Bertram et al., 2010), leading to an increase of APP products. The gene discussed is ATXN1; the disease is Alzheimer disease.