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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease amyloidosis
Symptom C0019080|hemorrhage
Sentences 20
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.
PubMedID- 24870607 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.
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- 25731625 The two best studied monogenic forms of cerebrovascular disease are cadasil and hereditary cerebral hemorrhage with amyloidosis-dutch type (hchwa-d) .
PubMedID- 20697050 Conclusions: these findings expand the number of app mutations linked to hereditary cerebral hemorrhage with amyloidosis, reinforcing the link between this phenotype and codon 693 of app.
PubMedID- 22494386 Three years after the cloning of app, the e693q dutch missense mutation in the mid-region of aβ (e22q when referring to the aβ peptide sequence) was identified as being causative of hereditary cerebral hemorrhage with amyloidosis dutch-type (hchwa-d) (figure 1b) .
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- 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- 24646423 In addition, a mutation that causes hereditary cerebral hemorrhage with amyloidosis-dutch type also attenuated the app-mediated intracellular death signal.
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- 23528174 Extensive al amyloidosis presenting with recurrent liver hemorrhage and hemoperitoneum: case report and literature review.
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- 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- 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- 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- 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- 25052608 Results: case 1, a 57-year-old male, secondary to multiple myeloma and amyloidosis, was presented with spontaneous mucous hemorrhage with the level of fx:c 1.8%, which kept unchanged after chemotherapy with melphalan, glucocorticoid, and thalidomide, and died of primary disease progression.
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- 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- 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.

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