Presenilin-1 polymorphism and hereditary cerebral hemorrhage with amyloidosis, Dutch type.
Hereditary cerebral hemorrhage with amyloidosis, Dutch type, caused by a mutation at codon 693 of the amyloid beta precursor protein gene, is characterized by amyloid beta deposition resulting in recurrent strokes and dementia. Recent data suggest that presenilin-1 may be biologically linked to cerebral amyloid beta deposition. The intronic presenilin-1 polymorphism published by Wragg and colleagues (1996) was analyzed in 65 carriers of the hereditary cerebral hemorrhage with amyloidosis, Dutch type, mutation. We found that the presenilin-1 genotype was not correlated with age at first stroke, number of recurrences, dementia, and age at death or with white matter hyperintensities and focal lesions on magnetic resonance images. From our data we conclude that amyloid beta deposition in this disease is most likely not influenced by presenilin-1.
Bornebroek
M
M
Department of Neurology, Leiden University Hospital, Netherlands.
Haan
J
J
Backhovens
H
H
Deutz
P
P
Van Buchem
M A
MA
van den Broeck
M
M
Bakker
E
E
Roos
R A
RA
Van Broeckhoven
C
C
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D000686:Amyloidosis / Q000175:diagnosis / Q000235:genetics*; D002543:Cerebral Hemorrhage / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D011110:Polymorphism, Genetic; D053764:Presenilin-1
D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1