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Type: Journal article
Title: A Western Australian kindred with Dutch cerebral amyloid angiopathy
Author: Panegyres, P.
Kwok, J.
Schofield, P.
Blumbergs, P.
Citation: Journal of the Neurological Sciences, 2005; 239(1):75-80
Publisher: Elsevier Science BV
Issue Date: 2005
ISSN: 0022-510X
Statement of
Peter K. Panegyres, John B. J. Kwok, Peter R. Schofield and Peter C. Blumbergs
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.
Keywords: Cerebral Arteries; Brain; Humans; Cerebral Amyloid Angiopathy, Familial; Cerebral Hemorrhage; Magnetic Resonance Imaging; Fatal Outcome; Amino Acid Substitution; Pedigree; DNA Mutational Analysis; Point Mutation; Aged; Middle Aged; Family Health; Western Australia; Netherlands; Female; Male; Genetic Testing; Amyloid beta-Peptides; Plaque, Amyloid
RMID: 0020052090
DOI: 10.1016/j.jns.2005.08.002
Appears in Collections:Pathology publications

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