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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.

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2.

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

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3.

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

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4.

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

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5.

None () Cerebral amyloid angiopathy. A critical review.

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6.

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

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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.

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8.

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

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9.

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

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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.

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11.

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

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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).

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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.

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14.

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

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15.

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

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16.

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

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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.

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18.

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

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19.

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

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20.

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

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21.

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

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22.

OMIM.ORG article

Omim 105150 external link
Update: 14. August 2020
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