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
Neurologyjournal_title
Neurologyauthors
McCarron MO,Nicoll JA,Stewart J,Ironside JW,Mann DM,Love S,Graham DI,Grubb Adoi
10.1212/wnl.54.1.242subject
Has Abstractpub_date
2000-01-11 00:00:00pages
242-4issue
1eissn
0028-3878issn
1526-632Xjournal_volume
54pub_type
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