title: Pure spastic paraparesis associated with a novel presenilin 1 R278K mutation.
authors.affiliation: Department of Neurological Sciences, University of Genova, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Assini
authors.forename: L
authors.initials: L
authors.lastname: Terreni
authors.forename: R
authors.initials: R
authors.lastname: Borghi
authors.forename: L
authors.initials: L
authors.lastname: Giliberto
authors.forename: A
authors.initials: A
authors.lastname: Piccini
authors.forename: D
authors.initials: D
authors.lastname: Loqui
authors.forename: S
authors.initials: S
authors.lastname: Fogliarino
authors.forename: G
authors.initials: G
authors.lastname: Forloni
authors.forename: M
authors.initials: M
authors.lastname: Tabaton
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D016229:Amyloid beta-Peptides / Q000032:analysis / Q000096:biosynthesis; D001057:Apolipoproteins E / Q000235:genetics; D002478:Cells, Cultured; D017077:Culture Media, Conditioned / Q000737:chemistry; D004252:DNA Mutational Analysis; D003704:Dementia / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D018450:Disease Progression; D005260:Female; D005347:Fibroblasts / Q000166:cytology / Q000378:metabolism; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D011939:Mental Recall; D008875:Middle Aged; D009483:Neuropsychological Tests; D020336:Paraparesis, Spastic / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D010446:Peptide Fragments / Q000032:analysis / Q000096:biosynthesis; D010641:Phenotype; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D053764:Presenilin-1
chemical_list: D016229:Amyloid beta-Peptides; D001057:Apolipoproteins E; D017077:Culture Media, Conditioned; D008565:Membrane Proteins; C508853:PSEN1 protein, human; D010446:Peptide Fragments; D053764:Presenilin-1; C078592:amyloid beta-protein (1-40); C075222:amyloid beta-protein (1-42)