Presenilin-1 mutation (E280G), spastic paraparesis, and cranial MRI white-matter abnormalities.

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… (More)

Topics

  • Presentations referencing similar topics