Journal
JOURNAL OF NEURAL TRANSMISSION
Volume 114, Issue 7, Pages 947-950Publisher
SPRINGER WIEN
DOI: 10.1007/s00702-007-0632-9
Keywords
frontotemporal dementia; parkinsonism; chromosome 17 (FTDP-17); P301S; race; tau mutation
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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.
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