Article
Early onset familial Alzheimer Disease with spastic paraparesis, dysarthria, and seizures and N135S mutation in PSEN1.
Alzheimer disease and associated disorders - 1 Jan 2000
Rudzinski Leslie A, Fletcher Rita M, Dickson Dennis W, Crook Richard, Hutton Michael L, Adamson Jennifer, Graff-Radford Neill R
Abstract excerpt
OBJECTIVE: Early onset familial Alzheimer disease (EOFAD) can be caused by mutations in genes for amyloid precursor protein, presenilin 1 (PSEN1), or presenilin 2 (PSEN2). There is considerable phenotypic variability in EOFAD, including some patients with spastic paraparesis. The objective is to describe clinical and neuropathologic features of a family with a PSEN1 mutation that has been reported previously,...
Topics
- Adult
- Age of Onset
- Alzheimer Disease
- Brain
- DNA Mutational Analysis
- Dysarthria
- Humans
- Immunohistochemistry
- Male
- Mutation
- Nerve Degeneration
- Paraparesis, Spastic
- Pedigree
- Polymerase Chain Reaction