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Dementia Mimicking Alzheimer's Disease Owing to a Tau Mutation: CSF... » Isaúde
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Alzheimer Disease and Associated Disorders
2010-07-01 00:00:00

Dementia Mimicking Alzheimer's Disease Owing to a Tau Mutation: CSF and PET Findings

Descrição: The objective of the study was to illustrate the utility of positron emission tomography (PET) imaging using [11C]PIB and [18F]FDDNP together with cerebrospinal fluid (CSF) measures of amyloid-[beta]1 to 42 (A[beta]42), 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 [11C]PIB and [18F]FDDNP PET in combination with CSF measures of A[beta]42, t-tau and p-tau. PET data were compared with paired [11C]PIB and [18F]FDDNP data from age-matched sporadic AD patients (n=9) and healthy controls (n=6). [11C]PIB retention and CSF levels of A[beta]42 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 [18F]FDDNP retention broadly correlated with CSF levels of t-tau and p-tau. Despite both individuals harbouring the same mutation, [18F]FDDNP retention and CSF t-tau and p-tau were elevated in 1 patient, but not in the other. [11C]PIB imaging and CSF measures of A[beta]42 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. (C) 2010 Lippincott Williams & Wilkins, Inc.

Seção: Brief Report
Volume: 0
Autor: Tolboom, Nelleke; Koedam, Esther L.G.E.; Schott, Jonathan M.; Yaqub, Maqsood; Blankenstein, Marinus A.; Barkhof, Frederik; Pijnenburg, Yolande A.L.; Lammertsma, Adriaan A.; Scheltens, Philip; van Berckel, Bart N. M.


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