A novel L266V mutation of the tau gene causes frontotemporal dementia with a unique tau pathology
- 4 December 2002
- journal article
- case report
- Published by Wiley in Annals of Neurology
- Vol. 53 (1) , 133-137
- https://doi.org/10.1002/ana.10447
Abstract
We report a novel mutation of tau (L266V missense mutation in exon 9) which may cause a type of familial frontotemporal dementia. The brain of a patient showed Pick body–like inclusions and unique tau‐positive, argyrophilic astrocytes with stout filaments and naked, round, or irregular argyrophilic inclusions with deposits of both three‐repeat and four‐repeat tau. Recombinant tau with a L266V mutation showed a reduced ability to promote microtubule assembly, which may be the primary effect of the mutation. Ann Neurol 2003;53:000–000Keywords
This publication has 17 references indexed in Scilit:
- Contrasting genotypes of the tau gene in two phenotypically distinct patients with P301L mutation of frontotemporal dementia and parkinsonism linked to chromosome 17Zeitschrift für Neurologie, 2002
- A novel tau mutation, S320F, causes a tauopathy with inclusions similar to those in Pick's diseaseAnnals of Neurology, 2002
- Pick-body-like inclusions in corticobasal degeneration differ from Pick bodies in Pick's diseaseActa Neuropathologica, 2002
- Pick's disease associated with the novel Tau gene mutation K369IAnnals of Neurology, 2001
- Tau‐positive dial Inclusions in Progressive Supranuclear Palsy, Corticobasal Degeneration and Pick's DiseaseBrain Pathology, 1999
- Mutation-Specific Functional Impairments in Distinct Tau Isoforms of Hereditary FTDP-17Science, 1998
- Tau Pathology in Two Dutch Families with Mutations in the Microtubule-Binding Region of TauThe American Journal of Pathology, 1998
- Analysis of phosphorylation of tau with antibodies specific for phosphorylation sitesNeuroscience Letters, 1995
- Detection of Phosphorylated Ser262 in Fetal Tau, Adult Tau, and Paired Helical Filament TauJournal of Biological Chemistry, 1995
- Tau proteins of alzheimer paired helical filaments: Abnormal phosphorylation of all six brain isoformsNeuron, 1992