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Title: CSF studies facilitate DNA diagnosis in familial Alzheimer's disease due to a presenilin-1 mutation.
Author(s): Bot, S.T. de ; Kremer, H.P.H. ; Dooijes, D.; Verbeek, M.M.
Publication year: 2009
Source: Journal of Alzheimer'S Disease, vol. 17, iss. 1, (2009), pp. 53-57
ISSN: 1387-2877
DOI: http://dx.doi.org/10.3233/JAD-2009-1038
Publication type: Article / Letter to editor

Please use this identifier to cite or link to this item : http://hdl.handle.net/2066/80427   http://hdl.handle.net/2066/80427

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Subject: DCN 2: Functional Neurogenomics
NCEBP 11: Alzheimer Centre
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
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.

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