PMID- 17318302 OWN - NLM STAT- MEDLINE DCOM- 20091123 LR - 20181113 IS - 1435-1463 (Electronic) IS - 0300-9564 (Linking) VI - 114 IP - 7 DP - 2007 Jul TI - Clinical and genetic features of families with frontotemporal dementia and parkinsonism linked to chromosome 17 with a P301S tau mutation. PG - 947-50 AB - 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. FAU - Baba, Y AU - Baba Y AD - Department of Neurology, Mayo Clinic, Jacksonville, Florida 32224, USA. FAU - Baker, M C AU - Baker MC FAU - Le Ber, I AU - Le Ber I FAU - Brice, A AU - Brice A FAU - Maeck, L AU - Maeck L FAU - Kohlhase, J AU - Kohlhase J FAU - Yasuda, M AU - Yasuda M FAU - Stoppe, G AU - Stoppe G FAU - Bugiani, O AU - Bugiani O FAU - Sperfeld, A D AU - Sperfeld AD FAU - Tsuboi, Y AU - Tsuboi Y FAU - Uitti, R J AU - Uitti RJ FAU - Farrer, M J AU - Farrer MJ FAU - Ghetti, B AU - Ghetti B FAU - Hutton, M L AU - Hutton ML FAU - Wszolek, Z K AU - Wszolek ZK LA - eng PT - Comparative Study PT - Journal Article PT - Research Support, N.I.H., Extramural DEP - 20070223 PL - Austria TA - J Neural Transm (Vienna) JT - Journal of neural transmission (Vienna, Austria : 1996) JID - 9702341 RN - 0 (tau Proteins) SB - IM MH - Adult MH - Chromosomes, Human, Pair 17/*genetics MH - Female MH - Frontotemporal Lobar Degeneration/*genetics/pathology MH - *Genetic Linkage MH - Genotype MH - Haplotypes/genetics MH - Humans MH - Male MH - Mutation/*genetics MH - Parkinsonian Disorders/*genetics/pathology MH - Young Adult MH - tau Proteins/*genetics EDAT- 2007/02/24 09:00 MHDA- 2009/12/16 06:00 CRDT- 2007/02/24 09:00 PHST- 2007/01/15 00:00 [received] PHST- 2007/01/16 00:00 [accepted] PHST- 2007/02/24 09:00 [pubmed] PHST- 2009/12/16 06:00 [medline] PHST- 2007/02/24 09:00 [entrez] AID - 10.1007/s00702-007-0632-9 [doi] PST - ppublish SO - J Neural Transm (Vienna). 2007 Jul;114(7):947-50. doi: 10.1007/s00702-007-0632-9. Epub 2007 Feb 23.