Clinical and genetic features of families with frontotemporal dementia and parkinsonism linked to chromosome 17 with a P301S tau mutation
- 23 February 2007
- journal article
- research article
- Published by Springer Nature in Journal Of Neural Transmission-Parkinsons Disease and Dementia Section
- Vol. 114 (7) , 947-950
- https://doi.org/10.1007/s00702-007-0632-9
Abstract
In 9 patients with frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) with a P301S tau mutation, the predominant phenotype was frontotemporal dementia in 3 and parkinsonism in 6. Comparison of the tau genotype/haplotype carrying the mutation and the initial clinical sign showed association between H1/H1 and parkinsonism and between H1/H2 and personality change. Thus, the tau haplotype carrying the mutation and the tau genotype may be related to the clinical phenotype throughout the disease course.Keywords
This publication has 9 references indexed in Scilit:
- Frontotemporal dementia and parkinsonism with the P301S tau gene mutation in a Jewish familyZeitschrift für Neurologie, 2003
- Phenotypic presentation of frontotemporal dementia with Parkinsonism-chromosome 17 type P301S in a patient of Jewish-Algerian originMovement Disorders, 2003
- Hereditary tauopathies and parkinsonism.2003
- Corticobasal degeneration and progressive supranuclear palsy share a common tau haplotypeNeurology, 2001
- A Japanese patient with frontotemporal dementia and parkinsonism by a tau P301S mutationNeurology, 2000
- FTDP-17: An early-onset phenotype with parkinsonism and epileptic seizures caused by a novel mutationAnnals of Neurology, 1999
- Frontotemporal Dementia and Corticobasal Degeneration in a Family with a P301S Mutation in TauJournal of Neuropathology and Experimental Neurology, 1999
- Association of an Extended Haplotype in the Tau Gene with Progressive Supranuclear PalsyHuman Molecular Genetics, 1999
- Differences in a dinucleotide repeat polymorphism in the tau gene between Caucasian and Japanese populations: implication for progressive supranuclear palsyNeuroscience Letters, 1998