" /> Cerebral amyloid angiopathy, cst3-related - CISMeF





Preferred Label : Cerebral amyloid angiopathy, cst3-related;

CISMeF acronym : HCHWA;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hereditary cerebral hemorrhage with amyloidosis; Amyloidosis VI; Amyloidosis, cerebroarterial, icelandic type; Cerebral hemorrhage, hereditary, with amyloidosis; HCHWA;

Description : Cerebral amyloid angiopathy (CAA), defined by the deposition of congophilic material in the vessels of the cortex and leptomeninges, is a major cause of intracerebral hemorrhage in the elderly (Vinters, 1987, Greenberg, 1998). Palsdottir et al. (1988) referred to the disorder in Icelandic patients as hereditary cystatin C amyloid angiopathy (HCCAA).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutations in the cystatin C gene (CST3, 604312.0001);

Laboratory abnormalities : Generalized amyloid deposition; Abnormally low cerebrospinal fluid cystatin C;

Prefixed ID : #105150;

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26/07/2025


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