title: CSF studies facilitate DNA diagnosis in familial Alzheimer's disease due to a presenilin-1 mutation.
abstract: In sporadic Alzheimer's disease (AD), cerebrospinal fluid (CSF) analysis is becoming increasingly relevant to establish an early diagnosis. We present a case of familial AD due to a presenilin-1 mutation in which CSF studies suggested appropriate DNA diagnostics. A 38 year old Dutch man presented with dementia, spastic paraparesis, and frontal executive function impairments, mimicking familial Creutzfeldt Jakob disease and frontotemporal dementia. CSF studies, revealing increased total tau and phosphorylated-tau levels with decreased amyloid-beta42, distinguished familial AD from Creutzfeldt Jakob disease and frontotemporal dementia. A causative p.L424R PSEN1 mutation was subsequently identified.
authors.affiliation: Department of Neurology, Donders Centre for Brain Cognition and Behaviour, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. ST.Bot@neuro.umcn.nl
authors.forename: Susanne T
authors.initials: ST
authors.lastname: de Bot
authors.forename: H P H
authors.initials: HP
authors.lastname: Kremer
authors.forename: Dennis
authors.initials: D
authors.lastname: Dooijes
authors.forename: Marcel M
authors.initials: MM
authors.lastname: Verbeek
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000134:cerebrospinal fluid / Q000175:diagnosis / Q000235:genetics; D016229:Amyloid beta-Peptides / Q000134:cerebrospinal fluid; D001120:Arginine / Q000235:genetics; D007562:Creutzfeldt-Jakob Syndrome / Q000134:cerebrospinal fluid / Q000175:diagnosis / Q000235:genetics; D003704:Dementia / Q000134:cerebrospinal fluid / Q000175:diagnosis / Q000235:genetics; D005260:Female; D006801:Humans; D007930:Leucine / Q000235:genetics; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010446:Peptide Fragments / Q000134:cerebrospinal fluid; D053764:Presenilin-1 / Q000134:cerebrospinal fluid* / Q000235:genetics*; D012016:Reference Values; D055815:Young Adult; D016875:tau Proteins / Q000134:cerebrospinal fluid
chemical_list: D016229:Amyloid beta-Peptides; D010446:Peptide Fragments; D053764:Presenilin-1; C500437:amyloid beta-peptide (5-42); D016875:tau Proteins; D001120:Arginine; D007930:Leucine