A Novel Presenilin 1 Mutation in Early-Onset Alzheimer's Disease With Prominent Frontal Features.
Familial Alzheimer's disease (AD) is a rare disorder involving known autosomal dominant mutations in the amyloid precursor protein and presenilin (PSEN) 1 and 2. Here, we present a case of early-onset AD with prominent frontal features associated with a novel deletion of codon 40 in the PSEN1 gene. Serial brain magnetic resonance imaging and(18)F florbetapir imaging show prominent involvement of the frontal lobes, corresponding with the clinical presentation. This case report illustrates a possible link between a novel PSEN1 mutation and frontal variant AD.
Department of Neurology, Yale University School of Medicine, New Haven, CT, USA haakon.nygaard@yale.edu.
Haakon B
HB
Nygaard
Department of Neurology, Drexel University, Philadelphia, PA, USA.
Carol F
CF
Lippa
Department of Diagnostic Radiology, Yale University School of Medicine, New Haven, CT, USA.
Djekidel
D
Mehdi
Department of Neurology, Yale University School of Medicine, New Haven, CT, USA.
Joachim M
JM
Baehring
D017668:Age of Onset; D000544:Alzheimer Disease / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D005625:Frontal Lobe / Q000000981:diagnostic imaging / Q000473:pathology*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation; D049268:Positron-Emission Tomography; D053764:Presenilin-1 / Q000235:genetics*
C508853:PSEN1 protein, human; D053764:Presenilin-1
Alzheimer’s disease; PSEN1; frontal features; novel mutation