Spastic paraparesis and atypical dementia caused by PSEN1 mutation (P264L), responsible for Alzheimer's disease.
Jacquemont
M L
ML
Département de Génétique Médicale, Cytogénétique et Embryologie, Hôpital de la Salpêtriére, Paris, France.
Campion
D
D
Hahn
V
V
Tallaksen
C
C
Frebourg
T
T
Brice
A
A
Durr
A
A
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
D008565:Membrane Proteins; C508853:PSEN1 protein, human; D053764:Presenilin-1; D011392:Proline; D007930:Leucine