Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Zerebroarterielle Amyloidose

Die zerebralen amyloid Angiopathie sind autosomal dominante Erkrankung mit variabler Penetranz, die durch eine Mutation in verschiedenen Genen hervorgerufen werden und entsprechend dieser Gene eine geographische Häufung aufweisen.

Gliederung

Hereditäre Amyloidose
ATTR-Amyloidose
Amyloidose vom Finnischen Typ
Cryopyrin-assoziiertes periodisches Fieber-Syndrom
Familiäres Mittelmeerfieber
Nierenamyloidose
Zerebroarterielle Amyloidose
Zerebroarterielle Amyloidose vom Britischen Typ
ITM2B
Zerebroarterielle Amyloidose vom Dänischen Typ
ITM2B
Zerebroarterielle Amyloidose vom Holländischen Typ
APP
Zerebroarterielle Amyloidose vom Isländischen Typ
CST3

Referenzen:

1.

Smith DB et al. (1985) Cerebral amyloid angiopathy presenting as transient ischemic attacks. Case report.

external link
2.

Stefansson K et al. (1980) Autosomal dominant cerebrovascular amyloidosis: properties of peripheral blood lymphocytes.

external link
3.

Mandybur TI et al. (1978) Fatal massive intracerebral hemorrhage complicating cerebral amyloid angiopathy.

external link
4.

Gudmundsson G et al. (1972) Hereditary cerebral haemorrhage with amyloidosis.

external link
5.

None () Cerebral amyloid angiopathy. A critical review.

external link
6.

KIDD HA et al. (1947) Cerebral angiomata in an Icelandic family.

external link
7.

Cohen DH et al. (1983) Amyloid fibril in hereditary cerebral hemorrhage with amyloidosis (HCHWA) is related to the gastroentero-pancreatic neuroendocrine protein, gamma trace.

external link
8.

Grubb A et al. (1984) Abnormal metabolism of gamma-trace alkaline microprotein. The basic defect in hereditary cerebral hemorrhage with amyloidosis.

external link
9.

Hochwald GM et al. (1985) Abnormal metabolism or reduced transport of CSF gamma-trace microprotein in hereditary cerebral hemorrhage with amyloidosis.

external link
10.

Ghiso J et al. (1986) Hereditary cerebral amyloid angiopathy: the amyloid fibrils contain a protein which is a variant of cystatin C, an inhibitor of lysosomal cysteine proteases.

external link
11.

Jensson O et al. (1987) Hereditary cystatin C (gamma-trace) amyloid angiopathy of the CNS causing cerebral hemorrhage.

external link
12.

Ghiso J et al. (1986) Amyloid fibrils in hereditary cerebral hemorrhage with amyloidosis of Icelandic type is a variant of gamma-trace basic protein (cystatin C).

external link
13.

Abrahamson M et al. (1987) Molecular cloning and sequence analysis of cDNA coding for the precursor of the human cysteine proteinase inhibitor cystatin C.

external link
14.

Palsdottir A et al. (1988) Mutation in cystatin C gene causes hereditary brain haemorrhage.

external link
15.

Jensson O et al. (1989) The saga of cystatin C gene mutation causing amyloid angiopathy and brain hemorrhage--clinical genetics in Iceland.

external link
16.

Löfberg H et al. () Immunohistochemical characterization of the amyloid deposits and quantitation of pertinent cerebrospinal fluid proteins in hereditary cerebral hemorrhage with amyloidosis.

external link
17.

Abrahamson M et al. (1992) Hereditary cystatin C amyloid angiopathy: identification of the disease-causing mutation and specific diagnosis by polymerase chain reaction based analysis.

external link
18.

None (1998) Cerebral amyloid angiopathy: prospects for clinical diagnosis and treatment.

external link
19.

Graffagnino C et al. (1994) A molecular genetic study of intracerebral hemorrhage.

external link
20.

Roosen N et al. (1985) Intracerebral hemorrhage due to cerebral amyloid angiopathy. Case report.

external link
21.

van Duinen SG et al. (1987) Hereditary cerebral hemorrhage with amyloidosis in patients of Dutch origin is related to Alzheimer disease.

external link
22.

OMIM.ORG article

Omim 105150 external link
Update: 14. August 2020
Copyright © 2005-2024 Zentrum für Nephrologie und Stoffwechsel, Dr. Mato Nagel
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Deutschland, Tel.: +49-3576-287922, Fax: +49-3576-287944
Seitenüberblick | Webmail | Haftungsausschluss | Datenschutz | Impressum