Journal
NEUROPATHOLOGY
Volume 27, Issue 3, Pages 228-232Publisher
BLACKWELL PUBLISHING
DOI: 10.1111/j.1440-1789.2007.00766.x
Keywords
Alzheimer disease; amyloid beta protein; presenilin 1; senile plaques; spastic paraparesis
Categories
Funding
- MRC [G0701075] Funding Source: UKRI
- Medical Research Council [G0701075] Funding Source: researchfish
- Medical Research Council [G0701075] Funding Source: Medline
Ask authors/readers for more resources
Over 100 mutations in the presenilin-1 gene (PSEN1) have been shown to result in familial early onset Alzheimer disease (EOAD), but only a relatively few give rise to plaques with an appearance like cotton wool (CWP) and/or spastic paraparesis (SP). A family with EOAD, seizures and CWP was investigated by neuropathological study and DNA sequencing of the PSEN1 gene. A beta was identified in leptomeningeal vessels and in cerebral plaques. A single point mutation, p.L420R (g.1508T > G) that gives rise to a missense mutation in the eighth transmembrane (TM8) domain of PS1 was identified in two affected members of the family. p.L420R (g.1508T > G) is the mutation responsible for EOAD, seizures and CWP without SP in this family.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available