Header

UZH-Logo

Maintenance Infos

Frontotemporal dementia: impact of P301L tau mutation on a healthy carrier


Alberici, A; Gobbo, C; Panzacchi, A; Nicosia, F; Ghidoni, R; Benussi, L; Hock, C; Papassotiropoulos, A; Liberini, P; Growdon, J H; Frisoni, G B; Villa, A; Zanetti, O; Cappa, S; Fazio, F; Binetti, G (2004). Frontotemporal dementia: impact of P301L tau mutation on a healthy carrier. Journal of Neurology, Neurosurgery, and Psychiatry, 75(11):1607-1610.

Abstract

Frontotemporal dementia (FTD) is the second commonest form of dementia after Alzheimer's disease, but its clinical and biological features are less well known. To uncover its earliest signs, we studied the main clinical, neuroimaging, and biochemical findings in an asymptomatic carrier from a three generation FTD family, bearing the P301L pathogenic mutation in the tau gene. Except for selective impairment on the Verbal Fluency Test for letters, all cognitive tests were normal. The brain computed tomography scan was normal, but the brain single photon emission computed tomography and statistical parametric mapping (SPECT-SPM) scan revealed bilateral frontal lobe hypoperfusion. Levels of total tau, 181P-tau, and Abeta1-42 in the cerebrospinal fluid were increased compared with control values. We conclude that detection of these distinctive abnormalities should improve early diagnostic accuracy for FTD and help distinguish it from Alzheimer's disease.

Abstract

Frontotemporal dementia (FTD) is the second commonest form of dementia after Alzheimer's disease, but its clinical and biological features are less well known. To uncover its earliest signs, we studied the main clinical, neuroimaging, and biochemical findings in an asymptomatic carrier from a three generation FTD family, bearing the P301L pathogenic mutation in the tau gene. Except for selective impairment on the Verbal Fluency Test for letters, all cognitive tests were normal. The brain computed tomography scan was normal, but the brain single photon emission computed tomography and statistical parametric mapping (SPECT-SPM) scan revealed bilateral frontal lobe hypoperfusion. Levels of total tau, 181P-tau, and Abeta1-42 in the cerebrospinal fluid were increased compared with control values. We conclude that detection of these distinctive abnormalities should improve early diagnostic accuracy for FTD and help distinguish it from Alzheimer's disease.

Statistics

Citations

18 citations in Web of Science®
21 citations in Scopus®
Google Scholar™

Altmetrics

Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute for Regenerative Medicine (IREM)
Dewey Decimal Classification:610 Medicine & health
Language:English
Date:2004
Deposited On:01 Sep 2011 15:44
Last Modified:07 Dec 2017 08:53
Publisher:BMJ Publishing Group
ISSN:0022-3050
Publisher DOI:https://doi.org/10.1136/jnnp.2003.021295
PubMed ID:15489396

Download

Full text not available from this repository.
View at publisher