Very early onset AD with a de novo mutation in the presenilin 1 gene (Met 233 Leu).
The authors describe a 28-year-old woman with histopathologically confirmed early onset Alzheimer disease characterized by severe frontal lobe involvement associated with a de novo mutation in the presenilin 1 gene (PSEN1).
Portet
F
F
UNCD, Gui de Chauliac Hospital, Montpellier, France. Floportet@aol.com
Dauvilliers
Y
Y
Campion
D
D
Raux
G
G
Hauw
J J
JJ
Lyon-Caen
O
O
Camu
W
W
Touchon
J
J
D000328:Adult; D000544:Alzheimer Disease / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D019943:Amino Acid Substitution; D004252:DNA Mutational Analysis; D018450:Disease Progression; D017809:Fatal Outcome; D005260:Female; D005625:Frontal Lobe / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D016874:Neurofibrillary Tangles / Q000473:pathology; D009483:Neuropsychological Tests; D010296:Parietal Lobe / Q000473:pathology; D058225:Plaque, Amyloid / Q000473:pathology; D053764:Presenilin-1; D013702:Temporal Lobe / Q000473:pathology; D015899:Tomography, Emission-Computed, Single-Photon
D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1