Ataxic variant of Alzheimer's disease caused by Pro117Ala PSEN1 mutation.
Anheim
M
M
Hannequin
D
D
Boulay
C
C
Martin
C
C
Campion
D
D
Tranchant
C
C
D000328:Adult; D000544:Alzheimer Disease / Q000134:cerebrospinal fluid / Q000150:complications* / Q000175:diagnosis; D001259:Ataxia / Q000150:complications* / Q000235:genetics*; D005260:Female; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D009483:Neuropsychological Tests; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*; D053764:Presenilin-1 / Q000235:genetics*; D012720:Severity of Illness Index
C508853:PSEN1 protein, human; D053764:Presenilin-1