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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adolescent
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Adult
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Aged
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Aged, 80 and over
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Alzheimer Disease* / cerebrospinal fluid
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Alzheimer Disease* / diagnosis
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Alzheimer Disease* / genetics
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Amyloid beta-Peptides / cerebrospinal fluid
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Arginine / genetics
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Creutzfeldt-Jakob Syndrome / cerebrospinal fluid
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Creutzfeldt-Jakob Syndrome / diagnosis
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Creutzfeldt-Jakob Syndrome / genetics
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Dementia / cerebrospinal fluid
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Dementia / diagnosis
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Dementia / genetics
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Female
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Humans
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Leucine / genetics
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Magnetic Resonance Imaging / methods
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Male
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Middle Aged
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Mutation / genetics*
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Peptide Fragments / cerebrospinal fluid
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Presenilin-1 / cerebrospinal fluid*
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Presenilin-1 / genetics*
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Reference Values
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Young Adult
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tau Proteins / cerebrospinal fluid
Substances
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Amyloid beta-Peptides
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Peptide Fragments
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Presenilin-1
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amyloid beta-peptide (5-42)
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tau Proteins
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Arginine
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Leucine