Hemorrhagic stroke associated with the Iowa amyloid precursor protein mutation.
The authors searched for mutations in the beta-amyloid precursor protein in a Spanish family with a hereditary syndrome of hemorrhagic stroke, dementia, leukoencephalopathy, and occipital calcifications. DNA from two affected members demonstrated the Iowa amyloid precursor protein mutation previously identified as a cause of severe amyloid angiopathy without hemorrhagic stroke. These data point to other genetic or environmental factors that may determine the occurrence of symptomatic hemorrhage in amyloid angiopathy.
Greenberg
S M
SM
Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA. greenberg@helix.mgh.harvard.edu
Shin
Y
Y
Grabowski
T J
TJ
Cooper
G E
GE
Rebeck
G W
GW
Iglesias
S
S
Chapon
F
F
Tournier-Lasserve
E
E
Baron
J-C
JC
D017668:Age of Onset; D000368:Aged; D019943:Amino Acid Substitution; D016564:Amyloid beta-Protein Precursor / Q000235:genetics*; D002114:Calcinosis / Q000209:etiology; D002342:Carotid Artery, External / Q000473:pathology; D028243:Cerebral Amyloid Angiopathy, Familial / Q000150:complications* / Q000453:epidemiology / Q000235:genetics; D002543:Cerebral Hemorrhage / Q000209:etiology*; D003062:Codon / Q000235:genetics; D018450:Disease Progression; D006801:Humans; D007484:Iowa; D008297:Male; D008875:Middle Aged; D009778:Occipital Lobe / Q000473:pathology; D013030:Spain / Q000453:epidemiology
D016564:Amyloid beta-Protein Precursor; D003062:Codon