Rare Diseases Symptoms Automatic Extraction

Amyloid beta precursor protein-mRNA is expressed throughout cerebral vessel walls.

[hereditary cerebral hemorrhage with amyloidosis]

To determine the presence and distribution of cerebrovascular Abeta production we investigated amyloid beta precursor protein (AbetaPP)-mRNA expression by RNA in situ hybridization in patients with hereditary cerebral hemorrhage with amyloidosis, Dutch type, Alzheimer disease and controls. In all subjects, AbetaPP-mRNA was expressed in endothelial cells, smooth muscle cells, adventitial cells and brain pericytes and/or perivascular cells. Meningeal cells also expressed AbetaPP-mRNA. AbetaPP was detected in endothelial cells, smooth muscle cells and adventitial cells. The demonstration of AbetaPP-mRNA at all vascular sites where amyloid formation can occur supports an important contribution of locally derived Abeta to cerebrovascular amyloidosis.

Diseases presenting "amyloidosis" symptom

  • cadasil
  • fabry disease
  • familial mediterranean fever
  • hereditary cerebral hemorrhage with amyloidosis
  • lymphangioleiomyomatosis
  • phenylketonuria
  • systemic capillary leak syndrome
  • triple a syndrome
  • waldenström macroglobulinemia

This symptom has already been validated