Please use this identifier to cite or link to this item:
|Scopus||Web of Science®||Altmetric|
|Title:||A Western Australian kindred with Dutch cerebral amyloid angiopathy|
|Citation:||Journal of the Neurological Sciences, 2005; 239(1):75-80|
|Publisher:||Elsevier Science BV|
|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|
|Appears in Collections:||Pathology publications|
Files in This Item:
There are no files associated with this item.
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.