title: Spastic paraparesis and atypical dementia caused by PSEN1 mutation (P264L), responsible for Alzheimer's disease.
authors.affiliation: Département de Génétique Médicale, Cytogénétique et Embryologie, Hôpital de la Salpêtriére, Paris, France.
authors.forename: M L
authors.initials: ML
authors.lastname: Jacquemont
authors.forename: D
authors.initials: D
authors.lastname: Campion
authors.forename: V
authors.initials: V
authors.lastname: Hahn
authors.forename: C
authors.initials: C
authors.lastname: Tallaksen
authors.forename: T
authors.initials: T
authors.lastname: Frebourg
authors.forename: A
authors.initials: A
authors.lastname: Brice
authors.forename: A
authors.initials: A
authors.lastname: Durr
mesh_terms: D000544:Alzheimer Disease / Q000209:etiology* / Q000235:genetics*; D019943:Amino Acid Substitution / Q000235:genetics*; D003704:Dementia / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D007930:Leucine / Q000235:genetics; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D020336:Paraparesis, Spastic / Q000235:genetics*; D053764:Presenilin-1; D011392:Proline / Q000235:genetics
chemical_list: D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1; D011392:Proline; D007930:Leucine