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Article

SORL1 mutations in early- and late-onset Alzheimer disease

27 Oct 2016

Abstract excerpt

Objective: To characterize the clinical and molecular effect of mutations in the sortilin-related receptor (SORL1) gene. Methods: We performed whole-exome sequencing in early-onset Alzheimer disease (EOAD) and late-onset Alzheimer disease (LOAD) families followed by functional studies of select variants. The phenotypic consequences associated with SORL1 mutations were characterized based on clinical reviews of...

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PMID: 27822510
DOI: 10.1212/nxg.0000000000000116

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