CSF studies facilitate DNA diagnosis in familial Alzheimer's disease due to a presenilin-1 mutation.
Publication year
2009Source
Journal of Alzheimer'S Disease, 17, 1, (2009), pp. 53-57ISSN
Publication type
Article / Letter to editor

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Organization
Neurology
Laboratory of Genetic, Endocrine and Metabolic Diseases
Journal title
Journal of Alzheimer'S Disease
Volume
vol. 17
Issue
iss. 1
Page start
p. 53
Page end
p. 57
Subject
DCN 2: Functional Neurogenomics; NCEBP 11: Alzheimer CentreAbstract
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.
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- Academic publications [204968]
- Electronic publications [103219]
- Faculty of Medical Sciences [81049]
- Open Access publications [71775]
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