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-β42, distinguished familial AD from Creutzfeldt Jakob disease and frontotemporal dementia. A causative p.L424R PSEN1 mutation was subsequently identified.

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Keywords 42, Amyloid-β, Cerebrospinal fluid biomarkers, Familial Alzheimer's disease, P.L424R, Phosphorylated-tau, Presenilin-1 mutation, Tau protein
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de Bot, S.T, Kremer, H.P, Dooijes, D, & Verbeek, M.M. (2009). CSF studies facilitate DNA diagnosis in familial alzheimer's disease due to a presenilin-1 mutation. Journal of Alzheimer's Disease, 17(1), 53–57. doi:10.3233/JAD-2009-1038