Italian Case Report with a Double Mutation in PSEN1 (K311R and E318G)

Abstract

Alzheimer’s disease (AD) is the most common cause of dementia worldwide. The clinical spectrum of suspected AD has been extended from mild cognitive impairment (MCI) to preclinical AD which includes people who have typical cognitive function but harbor the underlying biological features of AD. We report the first case of an Italian patient affected by MCI (MMSE 24\30), characterized by a double mutation p.Lys311Arg (K311R) and p.Glu318Gly (E318G) in Presenilin-1 but with the absence of abnormal accumulation of amyloid beta.

Keywords

• Alzheimer’s disease
• mild cognitive impairment
• <i>PSEN1</i>
• apolipoprotein E
• beta-amyloid