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A Western Australian kindred with Dutch cerebral amyloid angiopathy

Abstract

A family from the south of Western Australia is described with Dutch cerebral amyloid angiopathy (HCHWA-D). The proband died at age 60 from recurrent lobar haemorrhages in the brain, as did his sister and five other family members. The APP 693 mutation at position 22 of the Abetapeptide resulting in a glutamine for glutamic acid was identified in the proband and the affected sister. Pathologically lobar haemorrhages were found with cerebrovascular angiopathy; neuritic plaques were found but no neurofibrilary tangles. There was a leukoencephalopathy on MRI scanning. Dementia and cognitive decline has not been observed in this family. This is the first family reported outside of Europe and the Northern Hemisphere. The discovery highlights the importance of detecting this rare cause of fatal cerebral haemorrhage as it has implications for gene testing and general medical management.

Type Journal
ISBN 0022-510X (Print)
Authors Panegyres, P. K.;Kwok, J. B.;Schofield, P. R.;Blumbergs, P. C. :
Publisher Name JOURNAL OF THE NEUROLOGICAL SCIENCES
Published Date 2005-01-01 00:00:00
Published Volume 239
Published Issue 1
Published Pages 75-80
Status Published in-print
URL link to publisher's version http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=16213528
OpenAccess link to author's accepted manuscript version https://publications.gimr.garvan.org.au/open-access/1956