Abstract
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. Aβ 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.
Original language | English (US) |
---|---|
Pages (from-to) | 228-232 |
Number of pages | 5 |
Journal | Neuropathology |
Volume | 27 |
Issue number | 3 |
DOIs | |
State | Published - Jun 2007 |
Keywords
- Alzheimer disease
- Amyloid beta protein
- Presenilin 1
- Senile plaques
- Spastic paraparesis
ASJC Scopus subject areas
- Pathology and Forensic Medicine
- Clinical Neurology