Variant Alzheimer disease with spastic paraparesis: a rare presenilin-1 mutation.

摘要

Variant Alzheimer's with spastic paraparesis (varAD) is a rare clinical entity characterized by early-onset dementia and gait disorder with lower extremity spasticity and weakness.There is some phenotypic variability in that either the dementia or paraparesis may present first or in isolation and myoclonus, parkinsonian and psychiatric features may be present. Pathologically, the most striking features are beta-amyloid-positive "cotton wool" plaques and degeneration of corticospinal tracts.1 Typical Alzheimer pathology is commonly observed and amyloid angiopathy may be present.