In one carrier, examination of the brain at autopsy revealed neuropathology consistent with AD and CAA.

Data unavailable for this specific duplication, but pooled data reveal APP duplications increase APP expression by ~1.5 in blood. This duplication includes a single gene: APP. 

Unknown.

Data unavailable for this specific duplication, but pooled data reveal APP duplications increase APP expression by ~1.5 in blood.

Unknown, but an MRI scan of one carrier revealed probable CAA.

Data unavailable for this specific duplication, but pooled data reveal APP duplications increase APP expression by ~1.5 in blood. This duplication includes a single gene: APP.

Unknown, but CT and MRI scans of 4 affected and 6 asymptomatic carriers revealed white matter lesions or some form of vascular alteration. 

Data unavailable for this specific duplication, but pooled data reveal APP duplications increase APP expression by ~1.5 in blood.

Unknown.

Data unavailable for this specific duplication, but pooled data reveal APP duplications increase APP expression by ~1.5 in blood. This duplication includes a single gene: APP.

Consistent with AD and CAA.

Data unavailable for this specific duplication, but pooled data reveal APP duplications increase APP expression by ~1.5 in blood. This duplication includes a single gene: APP.

Neuropathology unknown, but MRI of one carrier revealed CAA with 2 intracerebral hemorrhages, 6 cerebral microbleeds, and cortical superficial siderosis.

Data unavailable for this specific duplication, but pooled data reveal APP duplications increase APP expression by ~1.5 in blood.

Consistent with severe CAA in 1 carrier and probable CAA detected by MRI in another. Absence of neurofibrillary tangles.

Data unavailable for this specific duplication, but pooled data reveal APP duplications increase APP expression by ~1.5 in blood.

Unknown, but MRI of one carrier revealed probable CAA with 3 intracerebral hemorrhages and 13 cerebral microbleeds.

Data unavailable for this specific duplication, but pooled data reveal APP duplications increase APP expression by ~1.5 in blood.

Unknown.

Data unavailable for this specific duplication, but pooled data reveal APP duplications increase APP expression by ~1.5 in blood.

In one carrier, neuropathology was consistent with AD with severe CAA and LBD. CAA and Lewy bodies were widespread. MRI of 3 carriers suggests neuropathology is heterogenous.

Data unavailable for this specific duplication, but pooled data reveal APP duplications increase APP expression by ~1.5 in blood.

Unknown.

Data unavailable for this specific duplication, but pooled data reveal APP duplications increase APP expression by ~1.5 in blood.

Consistent with AD and CAA in one case, and MRI revealed probable CAA in another.

Data unavailable for this specific duplication, but pooled data reveal APP duplications increase APP expression by ~1.5 in blood.

Neuropathology consistent with AD and severe CAA in cortex, insula, and basal ganglia. Also, Lewy bodies in the amygdala, locus niger, nucleus basalis of Meynert, and entorhinal cortex. 

Data unavailable for this specific duplication, but pooled data reveal APP duplications increase APP expression by ~1.5 in blood.

Unknown, but CSF biomarkers were consistent with AD and MRI revealed probable CAA in one carrier.

Data unavailable for this specific duplication, but pooled data reveal APP duplications increase APP expression by ~1.5 in blood.

Unknown, but CSF biomarkers were consistent with AD in one carrier. MRI showed no signs of CAA.

Data unavailable for this specific duplication, but pooled data reveal APP duplications increase APP expression by ~1.5 in blood.

Unknown, but CSF biomarkers were consistent with AD in one carrier.

Data unavailable for this specific duplication, but pooled data reveal APP duplications increase APP expression by ~1.5 in blood.

Unknown.

Data unavailable for this specific duplication, but pooled data reveal APP duplications increase APP expression by ~1.5 in blood. This duplication includes a single gene: APP.

Unknown, but CSF biomarkers were consistent with AD in one carrier and MRI showed probable CAA.

Data unavailable for this specific duplication, but pooled data reveal APP duplications increase APP expression by ~1.5 in blood

Unknown, but MRI of one carrier revealed probable CAA.

Data unavailable for this specific duplication, but pooled data reveal APP duplications increase APP expression by ~1.5 in blood. This duplication includes a single gene: APP.

Unknown. In one carrier, MRI revealed no sign of CAA.

Data unavailable for this specific duplication, but pooled data reveal APP duplications increase APP expression by ~1.5 in blood. This duplication includes a single gene: APP.

Unknown, but MRI of one carrier revealed probable CAA.

Data unavailable for this specific duplication, but pooled data reveal APP duplications increase APP expression by ~1.5 in blood. This duplication includes a single gene: APP.

Unknown.

Data unavailable for this specific duplication, but pooled data reveal APP duplications increase APP expression by ~1.5 in blood. This duplication includes a single gene: APP.

Unknown.

Data unavailable for this specific duplication, but pooled data reveal APP duplications increase APP expression by ~1.5 in blood.

Neuropathology consistent with AD and severe CAA in two carriers.

Data unavailable for this specific duplication, but pooled data reveal APP duplications increase APP expression by ~1.5 in blood.

Neuropathology was consistent with AD and severe CAA in two carriers.

Data unavailable for this specific duplication, but pooled data reveal APP duplications increase APP expression by ~1.5 in blood.

Neuropathology was consistent with AD and severe CAA in 3 carriers.

Data unavailable for this specific duplication, but pooled data reveal APP duplications increase APP expression by ~1.5 in blood.

Unknown, but hypoperfusion was seen in cortex of 1 carrier and was diffuse in another. MRI showed parieto-occipital and frontal white matter changes in the former. Atrophy was severe in the parieto-temporal cortices of both carriers.

Data unavailable for this specific duplication, but pooled data reveal APP duplications increase APP expression by ~1.5 in blood.

Neuropathology consistent with AD and severe CAA in 3 carriers.

Data unavailable for this specific duplication, but pooled data reveal APP duplications increase APP expression by ~1.5 in blood.

Unknown, but CSF biomarkers were consistent with AD. MRI of one carrier showed mild cortical atrophy without cerebrovascular alterations.

Levels of APP mRNA in the proband's blood were elevated ~1.5-fold.

Unknown, but CSF biomarkers were consistent with AD and brain imaging revealed sucbcortical white matter microbleeds and hyperintensities in one carrier.

Increased APP mRNA in blood ~1.5-fold.

CAA observed in a non-genotyped family member. One carrier had brain vascular alterations as revealed by MRI and CSF biomarkers (Aβ42, Aβ40, tau, phospho-tau) consistent with AD.

APP mRNA levels in blood were increased 2-fold in the proband.