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Fig. 3 | Alzheimer's Research & Therapy

Fig. 3

From: Phenotype and imaging features associated with APP duplications

Fig. 3

Size of APP locus duplications (n = 16) for each carrier with MRI available and associated genes involved. Rectangles show the duplicated regions in each family. For the family BES-262, MRIs of three related patients were available, and therefore, the number of ICH or CMBs varied between individuals. Otherwise, only one MRI was available per family. First column shows the position on chromosome 21 (GRCh37); second column shows name of genes corresponding to the position or the exon number within the APP gene; following columns represent the genomic duplication carried by each family (with family number and size of duplication in Mb). Each duplication contains the complete grey line corresponding to the APP gene. CAA, cerebral amyloid angiopathy diagnosis on MRI according to Boston revised criteria (except age criterion); ICH, intracerebral hemorrhage; CMB, cerebral microbleed; CSS, cortical superficial siderosis. Intra-familial heterogeneity was observed in the BES_262 family, in which 3 MRIs of symptomatic patients were available. The number of CMBs ranged from 42 to 420 (MRI performed at 54 and 56 years of age, respectively), and one patient from this family showed CAA-related inflammation at 52 years of age [17]

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