Absence of cystatin C mutation in sporadic cerebral amyloid angiopathy-related hemorrhage.

Abstract:

:In Icelandic pedigrees a cystatin C mutation, glutamine 68 (L68Q), causes autosomal dominant cerebral amyloid angiopathy-related hemorrhage (CAAH). We examined 33 patients with sporadic CAAH for this mutation. None carried L68Q and, including this report, only one of 52 published cases of sporadic CAAH has had the cystatin C mutation. Despite vascular colocalization of cystatin C with amyloid beta-protein, cystatin C L68Q is rare in sporadic CAAH.

journal_name

Neurology

journal_title

Neurology

authors

McCarron MO,Nicoll JA,Stewart J,Ironside JW,Mann DM,Love S,Graham DI,Grubb A

doi

10.1212/wnl.54.1.242

subject

Has Abstract

pub_date

2000-01-11 00:00:00

pages

242-4

issue

1

eissn

0028-3878

issn

1526-632X

journal_volume

54

pub_type

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