Pure spastic paraparesis associated with a novel presenilin 1 R278K mutation.
Assini
A
A
Department of Neurological Sciences, University of Genova, Italy.
Terreni
L
L
Borghi
R
R
Giliberto
L
L
Piccini
A
A
Loqui
D
D
Fogliarino
S
S
Forloni
G
G
Tabaton
M
M
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
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)