Absence of cystatin C mutation in sporadic cerebral amyloid angiopathy-related hemorrhage
McCarron, M O ; Nicoll, J A ; Stewart, J ; Ironside, J W ; Mann, D M ; Love, S ; Graham, D I and Grubb, A LU
(2000)
In Neurology
54(1).
p.242-244
- 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.
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/a71dc228-503c-47b9-ad10-e825c4ccea4f
- author
- McCarron, M O
; Nicoll, J A
; Stewart, J
; Ironside, J W
; Mann, D M
; Love, S
; Graham, D I
and Grubb, A
LU
- publishing date
- 2000
- type
- Contribution to journal
- publication status
- published
- keywords
- Aged, Cerebral Amyloid Angiopathy/complications, Cerebral Hemorrhage/etiology, Cystatin C, Cystatins/genetics, Female, Gene Frequency, Humans, Male, Mutation
- in
- Neurology
- volume
- 54
- issue
- 1
- pages
- 242 - 244
- publisher
- Lippincott Williams & Wilkins
- external identifiers
-
- scopus:0033960167
- pmid:10636160
- ISSN
- 0028-3878
- DOI
- 10.1212/wnl.54.1.242
- language
- English
- LU publication?
- no
- id
- a71dc228-503c-47b9-ad10-e825c4ccea4f
- date added to LUP
- 2021-11-02 14:32:45
- date last changed
- 2024-01-12 02:54:38
@article{a71dc228-503c-47b9-ad10-e825c4ccea4f,
abstract = {{<p>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.</p>}},
author = {{McCarron, M O and Nicoll, J A and Stewart, J and Ironside, J W and Mann, D M and Love, S and Graham, D I and Grubb, A}},
issn = {{0028-3878}},
keywords = {{Aged; Cerebral Amyloid Angiopathy/complications; Cerebral Hemorrhage/etiology; Cystatin C; Cystatins/genetics; Female; Gene Frequency; Humans; Male; Mutation}},
language = {{eng}},
number = {{1}},
pages = {{242--244}},
publisher = {{Lippincott Williams & Wilkins}},
series = {{Neurology}},
title = {{Absence of cystatin C mutation in sporadic cerebral amyloid angiopathy-related hemorrhage}},
url = {{http://dx.doi.org/10.1212/wnl.54.1.242}},
doi = {{10.1212/wnl.54.1.242}},
volume = {{54}},
year = {{2000}},
}