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In the last few years, the <i>SORL1</i> gene has been strongly implicated in the development of Alzheimer’s disease (AD). We performed whole-exome sequencing on 37 patients with early-onset dementia or family history suggestive of autosomal dominant dementia. Data analysis was based on a custom panel that included 46 genes related to AD and dementia. <i>SORL1</i> variants were present in a high proportion of patients with candidate variants (15%, 3/20). We expand the clinical manifestations associated with the <i>SORL1</i> gene by reporting detailed clinical and neuroimaging findings of six unrelated patients with AD and <i>SORL1</i> mutations. We also present for the first time a patient with the homozygous truncating variant c.364C>T (p.R122*) in <i>SORL1</i>, who also had severe cerebral amyloid angiopathy. Furthermore, we report neuropathological findings and immunochemistry assays from one patient with the splicing variant c.4519+5G>A in the <i>SORL1</i> gene, in which AD was confirmed by neuropathological examination. Our results highlight the heterogeneity of clinical presentation and familial dementia background of <i>SORL1</i>-associated AD and suggest that <i>SORL1</i> might be contributing to AD development as a risk factor gene rather than as a major autosomal dominant gene.