SORL1 and Alzheimer disease: There is one report of a SORL1 homozygous truncating variant (c.364C > T, p.R122*) that shows severe cerebral amyloid angiopathy in addition to AD neuropathology as well as a patient with a splicing variant (c.4519 + 5G > A) in which AD was confirmed by neuropathological studies [5].