UNIGE document Scientific Article
previous document  unige:26597  next document
add to browser collection
Title

Tau and neurofilaments in a family with frontotemporal dementia unlinked to chromosome 17q21-22

Authors
Riederer, Beat M
Heutink, Peter
Rizzu, Patrizia
Tolnay, Markus
Probst, Alphonse
Riederer, I rène M
show hidden authors show all authors [1 - 10]
Published in Neurobiology of Disease. 2003, vol. 12, no. 1, p. 46-55
Abstract A Swiss frontotemporal dementia (FTD) kindred with extrapyramidal-like features and without motor neuron disease shows a brain pathology with ubiquitin-positive but tau-negative inclusions. Tau and neurofilament modifications are now studied here in three recently deceased family members. No major and specific decrease of tau was observed as described by others in, e.g., sporadic cases of FTD with absence of tau-positive inclusions. However, a slight decrease of tau, neurofilament, and synaptic proteins, resulting from frontal atrophy was detected. In parallel, polymorphic markers on chromosome 17q21-22, the centromeric region of chromosome 3 and chromosome 9, were tested. Haplotype analysis showed several recombination events for chromosomes 3 and 17, but patients shared a haplotype on chromosome 9q21-22. However as one of the patients exhibited Alzheimer and vascular dementia pathology with uncertain concomitant FTD, this locus is questionable. Altogether, these data indicate principally that the Swiss kindred is unlinked to locus 17q21-22, and that tau is not at the origin of FTD in this family.
Keywords AdolescentAdultAgedAged, 80 and overCerebral Cortex/metabolism/pathology/physiopathologyChildChromosomes, Human, Pair 17/geneticsChromosomes, Human, Pair 3/geneticsChromosomes, Human, Pair 9/geneticsDementia/genetics/metabolism/pathologyFemaleGenetic Linkage/geneticsGenetic Markers/geneticsHaplotypes/geneticsHumansImmunohistochemistryInfant, NewbornMaleMembrane Proteins/metabolismNerve Tissue Proteins/metabolismNeurofilament Proteins/deficiency/genetics/metabolismNeurons/metabolism/pathologyPedigreeSwitzerlandSynaptosomal-Associated Protein 25Tau Proteins/deficiency/genetics
Identifiers
PMID: 12609488
Full text
Article (Published version) (198 Kb) - document accessible for UNIGE members only Limited access to UNIGE
Structures
Research group Groupe Bouras Constantin (neuropsychiatrie) (1)
Citation
(ISO format)
SAVIOZ, Armand et al. Tau and neurofilaments in a family with frontotemporal dementia unlinked to chromosome 17q21-22. In: Neurobiology of Disease, 2003, vol. 12, n° 1, p. 46-55. https://archive-ouverte.unige.ch/unige:26597

227 hits

0 download

Update

Deposited on : 2013-03-06

Export document
Format :
Citation style :