Figure 1 Pedigrees of the early-onset Alzheimer disease families and SORL1 protein diagram Pedigrees of the early-onset Alzheimer disease families and.

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Sortilin-related receptor and Alzheimer’s disease

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Figure 1 Pedigrees of the early-onset Alzheimer disease families and SORL1 protein diagram Pedigrees of the early-onset Alzheimer disease families and SORL1 protein diagram (A and B) Pedigrees of the early-onset Alzheimer disease (EOAD) families and SORL1 protein diagram. Affected individuals are solid black while those presenting with parkinsonian features are patterned. Below each individual number is either the age at onset (AAO, for affected individuals) or the age at last examination (AAE, for unaffected individuals). For family 191, the SORL1 variant is present in all affected individuals examined. In family 1240, the variant occurs in 3 of 4 cases evaluated. (C) Diagram of SORL1 protein (2214 total amino acids) indicating the location of principal domains and the variants identified in the EOAD families (T588I and T2134M) and the late-onset Alzheimer disease individuals (A528T and T947M). AD = Alzheimer disease; VPS10 = vesicular protein sorting 10 domain; CR = complement type repeat domains; EGF = epidermal growth factor; FNIII = fibronectin type III repeats; TM = transmembrane region; DLB = dementia with Lewy bodies; SORL1 = sortilin-related receptor. Michael L. Cuccaro et al. Neurol Genet 2016;2:e116 © 2016 American Academy of Neurology