Frontotemporal Dementias
4th International Conference
Lund, Sweden, April 24-26, 2003
Editors: Arne Brun, Lund; Elisabet Englund, Lund; Lars Gustafson, Lund; Ulla Passant, Lund; Jarl Risberg, Lund

Paper

Phenotypic Variation in Frontotemporal Dementia and Parkinsonism Linked to Chromosome 17
John C. van Swieten^a, Sonia M. Rosso^a, Esther van Herpen^b, Wouter Kamphorst^c, Rivka Ravid^d, Peter Heutink<sup>b

a</sup>Department of Neurology, Erasmus Medical Center, Rotterdam,
^bDepartment of Humane Genoom Analyse/Klinische Genetica,
^cDepartment of Pathology, University Hospital Vrije Universiteit, and
^dNetherlandsBrain Bank, Amsterdam, The Netherlands

Address of Corresponding Author

Dement Geriatr Cogn Disord 2004;17:261-264 (DOI: 10.1159/000077150)

  Key Words

• Frontotemporal dementia and parkinsonism linked to chromosome 17
• Tau gene mutations

  Abstract

Hereditary frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) caused by mutations in the tau gene shows a wide range in age at onset, several distinct clinical presentations, and a spectrum of tau pathology. Although the clinical and pathological phenotype often correlate with the location of the mutation, there also exists considerable interfamilial and intrafamilial phenotypical variation. Not all families with FTDP-17 do have mutations and deposition of hyperphosphorylated tau in the brain, but show ubiquitin-positive, tau-negative inclusions. Future research should focus on the role of other genetic and environmental factors in this form of FTDP-17, whereas the responsible gene defect(s) has still to be identified for hereditary FTD without tau mutations.

Copyright © 2004 S. Karger AG, Basel

  Author Contacts

Dr. J.C. van Swieten
Department of Neurology, Erasmus Medical Centre Rotterdam-Dijkzigt
Dr. Molewaterplein 40
NL-3015 GD Rotterdam (The Netherlands)
Tel. +31 10 4633274, Fax +31 10 4633208, E-Mail j.c.vanswieten@erasmusmc.nl

  Article Information

Number of Print Pages : 4
Number of Figures : 0, Number of Tables : 0, Number of References : 28