A Western Australian kindred with Dutch cerebral amyloid angiopathy.
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.
Panegyres
Peter K
PK
Neurosciences Unit, Cnr Mooro Drive and John XXIII Ave., Mt. Claremont 6019, Perth, Western Australia, Australia. macfarlane4@optusnet.com.au
Kwok
John B J
JB
Schofield
Peter R
PR
Blumbergs
Peter C
PC
D000368:Aged; D019943:Amino Acid Substitution / Q000235:genetics; D016229:Amyloid beta-Peptides / Q000235:genetics*; D001921:Brain / Q000098:blood supply / Q000473:pathology* / Q000503:physiopathology; D028243:Cerebral Amyloid Angiopathy, Familial / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D002536:Cerebral Arteries / Q000378:metabolism / Q000473:pathology* / Q000503:physiopathology; D002543:Cerebral Hemorrhage / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D004252:DNA Mutational Analysis; D005192:Family Health; D017809:Fatal Outcome; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009426:Netherlands; D010375:Pedigree; D058225:Plaque, Amyloid / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D017354:Point Mutation / Q000235:genetics*; D014904:Western Australia
D016229:Amyloid beta-Peptides