Rare Diseases Symptoms Automatic Extraction

Increased cystatin C in astrocytes of transgenic mice expressing the K670N-M671L mutation of the amyloid precursor protein and deposition in brain amyloid plaques.

[hereditary cerebral hemorrhage with amyloidosis]

Cystatin C is an essential secretory cofactor for neurogenesis with potent protease inhibitor activities. Polymorphisms of cystatin C are genetically associated with Alzheimer's disease (AD), and the L68Q mutation causes hereditary cerebral hemorrhage with amyloidosis of the Icelandic type, in which cystatin C and beta-amyloid are colocalized in cortical blood vessels. To determine whether cystatin C and beta-amyloid also colocalize in brain amyloid plaques, we analyzed transgenic mice expressing the Swedish APP (SweAPP) mutation. We found high levels of cystatin C in astrocytes surrounding beta-amyloid plaques, and discrete layers of cystatin C attached to amyloid plaque cores covered by a layer of beta-amyloid. In addition, cystatin C accumulated in reactive astrocytes throughout the brain, independently of, and before the onset of, amyloid plaque formation. These results show that expression of SweAPP is associated with increased cystatin C in reactive astrocytes, and they suggest an early role of cystatin C in appositional amyloid plaque growth.

Diseases presenting "blood vessels" symptom

  • cadasil
  • coats disease
  • cushing syndrome
  • esophageal adenocarcinoma
  • hereditary cerebral hemorrhage with amyloidosis
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • liposarcoma
  • lymphangioleiomyomatosis
  • malignant atrophic papulosis
  • oral submucous fibrosis
  • pyomyositis
  • sneddon syndrome
  • von hippel-lindau disease

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