|
AURAL ATRESIA, CONGENITAL
|
0.100 |
Biomarker
|
disease |
BEFREE |
Wild-type cystatin C is also observed in solitary CAA involving amyloid beta protein (Abeta), and accelerates the amyloidogenicity of Abeta in vitro.
|
18508448 |
2008 |
|
AURAL ATRESIA, CONGENITAL
|
0.100 |
Biomarker
|
disease |
BEFREE |
Accumulating data suggest involvement of cystatin C in the pathogenic processes leading to amyloid deposition in cerebral vasculature and most significantly to cerebral hemorrhage in patients with cerebral amyloid angiopathy (CAA).
|
16612983 |
2006 |
|
AURAL ATRESIA, CONGENITAL
|
0.100 |
Biomarker
|
disease |
BEFREE |
Several types of CAA have been identified in association with various amyloid proteins including amyloid beta protein (Abeta), cystatin C, prion protein, ABri/ADan, transthyretin, and gelsolin.
|
15537517 |
2004 |
|
AURAL ATRESIA, CONGENITAL
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Although certain inherited forms of CAA with cerebral haemorrhage are associated with autosomal dominant mutations in APP and other genes (cystatin-C, transthyretin, gelsolin, ABrit, ADan), in most cases of AD CAA does not associate clearly with any genetic risk factor other than APO E beta4 allele, which appears to increase the severity of CAA in a dose dependent manner, especially within the occipital cortex.
|
15876981 |
2004 |
|
AURAL ATRESIA, CONGENITAL
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Other amyloid proteins involved in familial CAAs include 1) the mutant cystatin C (ACys) in hereditary cerebral hemorrhage with amyloidosis of Icelandic type, 2) variant transthyretins (ATTR) in meningo-vascular amyloidoses, 3) mutated gelsolin (AGel) in familial amyloidosis of Finnish type, 4) disease-associated prion protein (PrP(Sc)) in a variant of the Gerstmann-Sträussler-Scheinker syndrome, and 5) ABri and ADan in CAAs observed in the recently described BRI2 gene-related dementias, familial British dementia and familial Danish dementia, respectively.
|
14533778 |
2003 |
|
AURAL ATRESIA, CONGENITAL
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
CAA occurs in several familial conditions, including hereditary cerebral hemorrhage with amyloidosis of Icelandic type caused by deposition of mutant cystatin C, hereditary cerebral hemorrhage with amyloidosis Dutch type and familial AD with deposition of either A beta variants or wild-type A beta, the transthyretin-related meningo-vascular amyloidoses, gelsolin as well as familial prion disease-related CAAs and the recently described BRI2 gene-related CAAs in familial British dementia and familial Danish dementia.
|
12146803 |
2002 |
|
AURAL ATRESIA, CONGENITAL
|
0.100 |
Biomarker
|
disease |
BEFREE |
Several cerebrovascular amyloid proteins (amyloid beta-protein (Abeta), cystatin C (ACys), prion protein (AScr), transthyretin (ATTR), gelsolin (AGel), and ABri (or A-WD)) have been identified, leading to the classification of several types of CAA.
|
10935432 |
2000 |
|
AURAL ATRESIA, CONGENITAL
|
0.100 |
Biomarker
|
disease |
BEFREE |
Among cases with CAA (37 CAAH, 19 AD, and 6 controls, n = 62) vascular apoE (p < 5 x 10(-4)), cystatin C (p < 10(-4)), activated microglia (p < 10(-4)), vessels with a high ratio of wall thickness to lumen diameter (p < 0.003) as well as dilated/microaneurysmal vessels (p < 0.01) were present more frequently in patients with hemorrhage than without; however, these features were not associated with the APOE epsilon2 allele.
|
10411341 |
1999 |
|
AURAL ATRESIA, CONGENITAL
|
0.100 |
Biomarker
|
disease |
BEFREE |
However, in less severely affected vessels, cystatin C was present in cells that also had the phenotype of sm, suggesting that sm cells synthesize or process cystatin C. Cystatin C immunoreactivity was in addition, detected in some neuronal cell bodies throughout the cortex in patients with HCCAA and AD-related CAA.
|
9063500 |
1997 |
|
AURAL ATRESIA, CONGENITAL
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We report a case of sporadic CAA with ICH in an elderly Croatian man with a mutation in cystatin C identical to that found in Icelandic hereditary cerebral hemorrhage with amyloidosis.
|
7482672 |
1995 |