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Article

Hereditary cystatin C amyloid angiopathy: monitoring the presence of the Leu-68-->Gln cystatin C variant in cerebrospinal fluids and monocyte cultures by MS.

The Biochemical journal - 1 Feb 1998

Asgeirsson B, Haebel S, Thorsteinsson L, Helgason E, Gudmundsson K O, Gudmundsson G, Roepstorff P

Abstract excerpt

Hereditary cystatin C amyloid angiopathy (HCCAA) is an autosomal dominant condition in which the patients suffer at an early age from repeated cerebral haemorrhages. The development of HCCAA is directly linked to a Leu-68-->Gln (L68Q) mutation in the cystatin C protein sequence. The concentration of cystatin C in cerebrospinal fluid (CSF) of HCCAA patients is markedly diminished and cultivated monocytes from...

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Identifiers

PMID: 9445375
DOI: 10.1042/bj3290497
PMCID: PMC1219069

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Hereditary cystatin C amyloid angiopathy: monitoring the presence of the Leu-68-->Gln cystatin C variant in cerebrospinal fluids and monocyte cultures by MS.PMID 9445375Read ↗

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