Disease | cerebral hemorrhage |
Phenotype | C0002726|amyloidosis |
Sentences | 20 |
PubMedID- 20729874 | Two types of hereditary cerebral hemorrhage with amyloidosis (hchwa) have been described: the icelandic type (hchwa-i) and the dutch type (hchwa-d). |
PubMedID- 20697050 | Hereditary cerebral hemorrhage with amyloidosis associated with the e693k mutation of app. |
PubMedID- 24870607 | Amyloid beta in hereditary cerebral hemorrhage with amyloidosis-dutch type. |
PubMedID- 25731625 | The two best studied monogenic forms of cerebrovascular disease are cadasil and hereditary cerebral hemorrhage with amyloidosis-dutch type (hchwa-d) [39]. |
PubMedID- 21949501 | However, the substitution of glu22 → gln found in hereditary cerebral hemorrhage with amyloidosis of the dutch type, yields a peptide with increased ability to form amyloid fibrils (soto et al., 1995). |
PubMedID- 22528105 | We have used it for solubilizing cystatin c amyloid and extracting it out of leptomeningeal tissue and skin from hereditary cerebral hemorrhage with amyloidosis-icelandic type (hchwa-i) patients. |
PubMedID- 22494386 | Bcaa, cerebral amyloid angiophathy; hchwa-d, hereditary cerebral hemorrhage with amyloidosis dutch-type (for a continuously updated list of app mutations, see [55]). |
PubMedID- 23267843 | Accumulation of amyloid-beta (abeta) in brain vessel walls and parenchyma, known as cerebral amyloid angiopathy (caa) and senile plaques (sps), respectively, plays a key role in alzheimer's disease (ad) and hereditary cerebral hemorrhage with amyloidosis of the dutch type (hchwa-d) pathogenesis. |
PubMedID- 20388643 | Since the identification of the first app missense mutation in hereditary cerebral hemorrhages with amyloidosis (hchwa-d) (12), 23 app missense mutations have been identified in 77 ad families (for up-to-date information, see ad mutation database, http://www.molgen.vib-ua.be/admutations/). |
PubMedID- 22160219 | Hereditary cerebral hemorrhage with amyloidosis-dutch type is a disorder associated with a missense mutation (e693q) in the beta-amyloid (abeta)-coding region of the amyloid precursor protein (app). |
PubMedID- 20091183 | Patients who have hereditary cerebral hemorrhage with amyloidosis-dutch type (hchwa-d) generate both wild-type aβ and e22q-mutant aβ (aβ dutch) (van duinen et al. |
PubMedID- 23273574 | Proinflammatory response induced by the ex vivo mutant cystatin c protein aggregates suggests that vascular inflammation plays an important role in hereditary cerebral hemorrhage with amyloidosis-icelandic type. |
PubMedID- 23122413 | Cerebral amyloid angiopathy (caa) is a key histopathological hallmark of alzheimer's disease (ad) and hereditary cerebral hemorrhage with amyloidosis of the dutch type (hchwa-d). |
PubMedID- 23857767 | Abnormal changes of vsmcs are implicated not only in hypertensive ich (takebayashi and kaneko, 1983; pleşea et al., 2005), but also in hereditary cerebral hemorrhage with amyloidosis (herzig et al., 2004; mccarron and nicoll, 2004) and atherosclerosis, among others (orr et al., 2010). |
PubMedID- 22539931 | It has been indicated in both human and experimental studies that an increase of aβ40 to aβ42 ratio significantly shifts aβ deposition toward the cerebral vasculature, resulting in prominent caa, as demonstrated in hereditary cerebral hemorrhage with amyloidosis-dutch type (hchwa-d) with a point mutation at codon 693 of the aβ precursor protein (app) gene that causes a single amino acid substitution (glu to gln) at position 22 of aβ, and the transgenic mouse model of this disease (herzig et al., 2004). |
PubMedID- 23505467 | Fibril formation in this mutation is limited to the cerebrovasculature and amyloidosis leads to cerebral hemorrhage [26], [27]. |
PubMedID- 22783166 | Hereditary cerebral hemorrhage with amyloidosis, icelandic type (hchwa-i) (arnason, 1935; gudmundsson et al., 1972), also called hereditary cystatin c amyloid angiopathy (hccaa; olafsson et al., 1996), is an autosomal dominant form of caa. |
PubMedID- 24646423 | In addition, a mutation that causes hereditary cerebral hemorrhage with amyloidosis-dutch type also attenuated the app-mediated intracellular death signal. |
PubMedID- 20034483 | Cerebral amyloid angiopathy (caa) is a common pathological finding in alzheimer's disease and hereditary cerebral hemorrhage with amyloidosis of the dutch type; in this latter condition it is caused by deposition of mutated amyloid beta protein (abeta glu22gln; d-abeta(1-40)). |
PubMedID- 24998827 | Dutch-type hereditary cerebral hemorrhage with amyloidosis (hchwa-d), icelandic-type hchwa (hchwa-i), familial british dementia (fbd), familial danish dementia (fdd), and prp-caa. |
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