rdf:type |
|
lifeskim:mentions |
umls-concept:C0002395,
umls-concept:C0007806,
umls-concept:C0026882,
umls-concept:C0031268,
umls-concept:C0032743,
umls-concept:C0497327,
umls-concept:C1720655,
umls-concept:C1947974,
umls-concept:C2607943,
umls-concept:C2700455,
umls-concept:C2926606
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pubmed:issue |
3
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pubmed:dateCreated |
2010-8-27
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pubmed:abstractText |
The objective of the study was to illustrate the utility of positron emission tomography (PET) imaging using [C]PIB and [F]FDDNP together with cerebrospinal fluid (CSF) measures of amyloid-beta1 to 42 (Abeta42), total tau (t-tau) and tau phosphorylated at threonine 181 (p-tau) in the in vivo diagnosis of specific dementia syndromes. Two siblings fulfilling diagnostic criteria for familial Alzheimer's disease (AD) were investigated using [C]PIB and [F]FDDNP PET in combination with CSF measures of Abeta42, t-tau and p-tau. PET data were compared with paired [C]PIB and [F]FDDNP data from age-matched sporadic AD patients (n=9) and healthy controls (n=6). [C]PIB retention and CSF levels of Abeta42 in both patients resembled those of controls suggesting the presence of nonamyloid pathology. Genetic testing confirmed the absence of mutations in the presenilin 1 gene in 1 patient; subsequent testing revealed the R406W tau mutation in both individuals leading to a diagnosis of frontotemporal dementia [F]FDDNP retention broadly correlated with CSF levels of t-tau and p-tau. Despite both individuals harbouring the same mutation, [F]FDDNP retention and CSF t-tau and p-tau were elevated in 1 patient, but not in the other. [C]PIB imaging and CSF measures of Abeta42 are useful in refuting the presence of underlying amyloid pathology. This, in combination with elevated levels of CSF t-tau and p-tau, has potential value in differential diagnosis of frontotemporal dementia from AD.
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pubmed:language |
eng
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pubmed:journal |
|
pubmed:citationSubset |
IM
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pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/2-(1-(6-((2-fluoroethyl)(methyl)amin...,
http://linkedlifedata.com/resource/pubmed/chemical/Amyloid beta-Peptides,
http://linkedlifedata.com/resource/pubmed/chemical/Benzothiazoles,
http://linkedlifedata.com/resource/pubmed/chemical/Biological Markers,
http://linkedlifedata.com/resource/pubmed/chemical/MAPT protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/N-methyl-2-(4'-methylaminophenyl)-6-...,
http://linkedlifedata.com/resource/pubmed/chemical/Nitriles,
http://linkedlifedata.com/resource/pubmed/chemical/PSEN1 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/Peptide Fragments,
http://linkedlifedata.com/resource/pubmed/chemical/Presenilin-1,
http://linkedlifedata.com/resource/pubmed/chemical/Threonine,
http://linkedlifedata.com/resource/pubmed/chemical/amyloid beta-protein (1-42),
http://linkedlifedata.com/resource/pubmed/chemical/tau Proteins
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pubmed:status |
MEDLINE
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pubmed:issn |
1546-4156
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pubmed:author |
|
pubmed:issnType |
Electronic
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pubmed:volume |
24
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
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pubmed:pagination |
303-7
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pubmed:meshHeading |
pubmed-meshheading:20683187-Alzheimer Disease,
pubmed-meshheading:20683187-Amyloid beta-Peptides,
pubmed-meshheading:20683187-Benzothiazoles,
pubmed-meshheading:20683187-Biological Markers,
pubmed-meshheading:20683187-Brain,
pubmed-meshheading:20683187-Dementia,
pubmed-meshheading:20683187-Diagnosis, Differential,
pubmed-meshheading:20683187-Female,
pubmed-meshheading:20683187-Humans,
pubmed-meshheading:20683187-Male,
pubmed-meshheading:20683187-Middle Aged,
pubmed-meshheading:20683187-Nitriles,
pubmed-meshheading:20683187-Peptide Fragments,
pubmed-meshheading:20683187-Positron-Emission Tomography,
pubmed-meshheading:20683187-Presenilin-1,
pubmed-meshheading:20683187-Threonine,
pubmed-meshheading:20683187-tau Proteins
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pubmed:articleTitle |
Dementia mimicking Alzheimer's disease Owing to a tau mutation: CSF and PET findings.
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pubmed:affiliation |
Department of Neurology & Alzheimer Centre, VU University Medical Centre, Amsterdam, the Netherlands. n.tolboom@vumc.nl
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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