Very early onset AD with a de novo mutation in the presenilin 1 gene (Met 233 Leu)

F Portet; Y Dauvilliers; D Campion; G Raux; J J Hauw; O Lyon-Caen; W Camu; J Touchon

doi:10.1212/01.wnl.0000086811.39675.79

Very early onset AD with a de novo mutation in the presenilin 1 gene (Met 233 Leu)

Neurology. 2003 Oct 28;61(8):1136-7. doi: 10.1212/01.wnl.0000086811.39675.79.

Authors

F Portet¹, Y Dauvilliers, D Campion, G Raux, J J Hauw, O Lyon-Caen, W Camu, J Touchon

Affiliation

¹ UNCD, Gui de Chauliac Hospital, Montpellier, France. Floportet@aol.com

PMID: 14581682
DOI: 10.1212/01.wnl.0000086811.39675.79

Abstract

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).

Publication types

Case Reports

MeSH terms

Adult
Alzheimer Disease / diagnosis*
Alzheimer Disease / genetics*
Alzheimer Disease / pathology
Amino Acid Substitution
DNA Mutational Analysis
Disease Progression
Fatal Outcome
Female
Frontal Lobe / pathology
Humans
Magnetic Resonance Imaging
Membrane Proteins / genetics*
Mutation*
Neurofibrillary Tangles / pathology
Neuropsychological Tests
Parietal Lobe / pathology
Plaque, Amyloid / pathology
Presenilin-1
Temporal Lobe / pathology
Tomography, Emission-Computed, Single-Photon

Substances

Membrane Proteins
PSEN1 protein, human
Presenilin-1