Presenilin-1 mutation (E280G), spastic paraparesis, and cranial MRI white-matter abnormalities.
case_series · Level IV
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Abstract
The authors report unusual presentations of members of an Irish family with familial AD due to an E280G mutation in exon 8 of presenilin-1. One had spastic paraparesis and white matter abnormalities on cranial MRI. A sibling had an internuclear ophthalmoplegia, spastic-ataxic quadriparesis, and "cotton-wool plaques" with amyloid angiopathy on brain biopsy. Another affected sibling also had MRI white matter abnormalities. The MRI findings may reflect an ischemic leukoencephalopathy due to amyloid angiopathy affecting meningocortical vessels.
Medical subject headings
- Amino Acid Substitution
- Brain
- Magnetic Resonance Imaging
- Membrane Proteins
- Mutation
- Paraparesis, Spastic