Frontotemporal Lobar Degeneration with Ubiquitin-Positive Inclusions: A Molecular Genetic Updatevan der Zee J. · Gijselinck I. · Pirici D. · Kumar-Singh S. · Cruts M. · Van Broeckhoven C.
Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Laboratory of Neurogenetics, Institute Born-Bunge, and University of Antwerp, Antwerp, Belgium
Frontotemporal lobar degeneration (FTLD) is a clinically, pathologically and genetically highly complex disorder. In the last few years enormous progress has been made in dissecting the genetic etiology of FTLD. Mutations have been identified in the progranulin gene (PGRN), the charged multivesicular body protein 2B gene (CHMP2B) and the valosin-containing protein gene (VCP). Mutations in these genes all lead to FTLD pathology characterized by ubiquitin-immunoreactive neuronal cytoplasmic and intranuclear lentiform inclusions (FTLD-U). The similar pathology suggests that these genes may be connected trough a common disease pathway leading to neurodegeneration and the formation of these pathognomic inclusions. This review focuses on the molecular genetic processes underlying FTLD-U pathology.
© 2007 S. Karger AG, Basel
Prof. Dr. Christine Van Broeckhoven, PhD, DSc
VIB – Department of Molecular Genetics, Neurodegenerative Brain Diseases Group
University of Antwerp – CDE, Universiteitsplein 1
BE–2610 Antwerpen (Belgium)
Tel. +32 3 265 1001, Fax +32 3 265 1012, E-Mail firstname.lastname@example.org
Number of Print Pages : 9
Number of Figures : 3, Number of Tables : 2, Number of References : 52
Vol. 4, No. 2-3, Year 2007 (Cover Date: June 2007)
Journal Editor: Nitsch, R.M. (Zürich)
ISSN: 1660–2854 (print), 1660–2862 (Online)
For additional information: http://www.karger.com/NDD