CSF studies facilitate DNA diagnosis in familial alzheimer's disease due to a presenilin-1 mutation
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Publication date
2009-07-27
Authors
De Bot, Susanne T.
Kremer, H. P H
Dooijes, Dennis
Verbeek, Marcel M.
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Article
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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-β42, distinguished familial AD from Creutzfeldt Jakob disease and frontotemporal dementia. A causative p.L424R PSEN1 mutation was subsequently identified.
Keywords
Amyloid-β, Cerebrospinal fluid biomarkers, Familial Alzheimer's disease, P.L424R, Phosphorylated-tau, Presenilin-1 mutation, Tau protein, Geriatrics and Gerontology, Psychiatry and Mental health, Clinical Psychology, Case Reports, Journal Article, Research Support, Non-U.S. Gov't
Citation
De Bot, S T, Kremer, H P H, 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, vol. 17, no. 1, pp. 53-57. https://doi.org/10.3233/JAD-2009-1038