|
Cerebral hemorrhage with amyloidosis, hereditary, Dutch type
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Hereditary Cerebral Hemorrhage with Amyloidosis-Dutch type (HCHWA-D) is an autosomal dominant hereditary disease caused by a point mutation in exon 17 of the APP gene.
|
30611017 |
2019 |
|
Cerebral hemorrhage with amyloidosis, hereditary, Dutch type
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Hereditary cerebral hemorrhage with amyloidosis-Dutch type (HCHWA-D) is an early onset hereditary form of cerebral amyloid angiopathy (CAA) caused by a point mutation resulting in an amino acid change (NP_000475.1:p.Glu693Gln) in the amyloid precursor protein (APP).
|
29706885 |
2018 |
|
Cerebral hemorrhage with amyloidosis, hereditary, Dutch type
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
In addition, a mutation that causes hereditary cerebral hemorrhage with amyloidosis-Dutch type also attenuated the APP-mediated intracellular death signal.
|
24646423 |
2014 |
|
Cerebral hemorrhage with amyloidosis, hereditary, Dutch type
|
0.600 |
GermlineCausalMutation
|
disease |
ORPHANET |
Hereditary cerebral hemorrhage with amyloidosis - Dutch type is an autosomal dominant hereditary disease caused by a point mutation in the amyloid precursor protein gene on chromosome 21.
|
24870607 |
2014 |
|
Cerebral hemorrhage with amyloidosis, hereditary, Dutch type
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D), is an autosomal dominant disorder caused by the Dutch mutation (E693Q) in the beta-amyloid precursor protein.
|
17628026 |
2007 |
|
Cerebral hemorrhage with amyloidosis, hereditary, Dutch type
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Hereditary cerebral hemorrhage with amyloidosis-Dutch type (HCHWA-D) is a rare autosomal dominant disorder caused by an amyloid-beta precursor protein (AbetaPP) 693 mutation that clinically leads to recurrent hemorrhagic strokes and dementia.
|
14678776 |
2003 |
|
Cerebral hemorrhage with amyloidosis, hereditary, Dutch type
|
0.600 |
Biomarker
|
disease |
CTD_human |
Substitutions at codon 22 of Alzheimer's abeta peptide induce diverse conformational changes and apoptotic effects in human cerebral endothelial cells.
|
10821838 |
2000 |
|
Cerebral hemorrhage with amyloidosis, hereditary, Dutch type
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
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.
|
10320740 |
1999 |
|
Cerebral hemorrhage with amyloidosis, hereditary, Dutch type
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The pathogenetic mechanisms of HCHWA-D are unknown but could involve alterations in the proteolytic processing of APP and in amyloid fibril formation.
|
10359654 |
1999 |
|
Cerebral hemorrhage with amyloidosis, hereditary, Dutch type
|
0.600 |
Biomarker
|
disease |
BEFREE |
Cystatin C is also found to colocalize with amyloid beta/A4 protein in cerebral vessel walls of patients with Alzheimer's disease (AD), sporadic CAA, and hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D).
|
9063500 |
1997 |
|
Cerebral hemorrhage with amyloidosis, hereditary, Dutch type
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Amyloid (A beta) deposition was investigated in cases of Alzheimer's disease and hereditary cerebral hemorrhage with amyloidosis, Dutch type, due to mutations in the amyloid precursor protein (APP) gene using the end-specific monoclonal antibodies BA27 and BC05 that recognize A beta 40 or A beta 42(43), respectively.
|
8644866 |
1996 |
|
Cerebral hemorrhage with amyloidosis, hereditary, Dutch type
|
0.600 |
Biomarker
|
disease |
BEFREE |
Together these findings suggest that: a) the presence of APP in plaques is related to neuritic changes; b) different processes occur in amyloid formation in plaques and vessels; and c) differences exist between the process of amyloid formation in HCHWA-D and AD.
|
7684195 |
1993 |
|
Cerebral hemorrhage with amyloidosis, hereditary, Dutch type
|
0.600 |
Biomarker
|
disease |
BEFREE |
Amyloid beta-protein, or beta/A4, is a 4-kilodalton peptide that forms poorly soluble extracellular depositions of amyloid in brains and leptomeninges of patients with Alzheimer's disease (AD), Down's syndrome (DS), and hereditary cerebral hemorrhage with amyloidosis-Dutch type (HCHWA-D). beta/A4 peptide is a derivative of a large transmembrane glycoprotein (APP) and is found in the extracellular space, i.e., in the cerebrospinal fluid and serum of individuals with and without AD and in the conditioned media of many different cells grown in culture.
|
8239272 |
1993 |
|
Cerebral hemorrhage with amyloidosis, hereditary, Dutch type
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We also tested for the APP codon 693 mutation associated with hereditary cerebral hemorrhage with amyloidosis-Dutch type, for PRIP gene missense mutations at codons 102, 117, and 200, and for the PRIP insertion mutations which are associated with Creutzfeld-Jakob disease and Gerstmann-Straussler Scheinker syndrome.
|
1679288 |
1991 |
|
Cerebral hemorrhage with amyloidosis, hereditary, Dutch type
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
This study combined with the study of two other families in Holland indicates that the codon 618 variant in the amyloid precursor protein gene segregates with HCHWA-D.
|
1763898 |
1991 |
|
Cerebral hemorrhage with amyloidosis, hereditary, Dutch type
|
0.600 |
Biomarker
|
disease |
CTD_human |
Mutation of the Alzheimer's disease amyloid gene in hereditary cerebral hemorrhage, Dutch type.
|
2111584 |
1990 |