Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

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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2.

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

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3.

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

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4.

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

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5.

Greenberg SM et al. (1998) Cerebral amyloid angiopathy: prospects for clinical diagnosis and treatment.

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6.

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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7.

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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8.

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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9.

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

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10.

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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11.

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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12.

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

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13.

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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14.

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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15.

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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16.

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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17.

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

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18.

Vinters HV et al. () Cerebral amyloid angiopathy. A critical review.

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19.

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

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20.

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

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21.

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

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