HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS REGISTER		Author Keyword(s) Vol Page [Advanced]

This Article Full Text Full Text (PDF) Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Citation Map Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Add article to my folders Download to citation manager Request Permissions Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Alberici, A Articles by Binetti, G Search for Related Content PubMed PubMed Citation Articles by Alberici, A Articles by Binetti, G

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

¹ Neurobiology Lab, IRCCS S. Giovanni di Dio-FBF, Brescia, Italy
² Department of Nuclear Medicine, Institute H S Raffaele, Milan, Italy
³ Department of Psychiatric Research, University of Zurich, Zurich, Switzerland
⁴ Department of Neurology, Spedali Civili, Brescia, Italy
⁵ Department of Neurology, Massachusetts General Hospital, Boston, MA, USA
⁶ Epidemiology and Neuroimaging Lab, IRCCS S. Giovanni di Dio-FBF, Brescia, Italy
⁷ Alzheimer Research Unit, IRCCS S Giovanni di Dio-FBF, Brescia, Italy
⁸ INB-CNR University of Milan-Bicocca, Milan, Italy
⁹ Memory Clinic, IRCCS S. Giovanni di Dio-FBF, Brescia, Italy

Correspondence to:
Correspondence to:
Dr G Binetti
Memory Clinic, IRCCS S. Giovanni di Dio-FBF, Via Pilastroni 4, 25123 Brescia, Italy; gbinetti{at}oh-fbf.it

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 Aß1-42 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.

Abbreviations: AD, Alzheimer’s disease; CSF, cerebrospinal fluid; FTD, frontotemporal dementia; HC, healthy controls; SPECT-SPM, single photon emission computed tomography and statistical parametric mapping

Keywords: frontotemporal dementia; preclinical; SPECT; tau mutation

This article has been cited by other articles:

				W. W. Seeley, R. Crawford, K. Rascovsky, J. H. Kramer, M. Weiner, B. L. Miller, and M. L. Gorno-Tempini Frontal Paralimbic Network Atrophy in Very Mild Behavioral Variant Frontotemporal Dementia Arch Neurol, February 1, 2008; 65(2): 249 - 255. [Abstract] [Full Text] [PDF]

				S. Spina, M. R. Farlow, F. W. Unverzagt, D. A. Kareken, J. R. Murrell, G. Fraser, F. Epperson, R. A. Crowther, M. G. Spillantini, M. Goedert, et al. The tauopathy associated with mutation +3 in intron 10 of Tau: characterization of the MSTD family Brain, January 1, 2008; 131(1): 72 - 89. [Abstract] [Full Text] [PDF]

				Familial frontotemporal dementia: early manifestations J. Clin. Pathol., December 1, 2004; 57(12): 1337 - 1337. [Full Text] [PDF]