PMID- 15178932
OWN - NLM
STAT- MEDLINE
DCOM- 20040924
LR  - 20101118
IS  - 1420-8008 (Print)
IS  - 1420-8008 (Linking)
VI  - 17
IP  - 4
DP  - 2004
TI  - Phenotypic variation in frontotemporal dementia and parkinsonism linked to 
      chromosome 17.
PG  - 261-4
AB  - Hereditary frontotemporal dementia and parkinsonism linked to chromosome 17 
      (FTDP-17) caused by mutations in the tau gene shows a wide range in age at onset, 
      several distinct clinical presentations, and a spectrum of tau pathology. 
      Although the clinical and pathological phenotype often correlate with the 
      location of the mutation, there also exists considerable interfamilial and 
      intrafamilial phenotypical variation. Not all families with FTDP-17 do have 
      mutations and deposition of hyperphosphorylated tau in the brain, but show 
      ubiquitin-positive, tau-negative inclusions. Future research should focus on the 
      role of other genetic and environmental factors in this form of FTDP-17, whereas 
      the responsible gene defect(s) has still to be identified for hereditary FTD 
      without tau mutations.
CI  - Copyright 2004 S. Karger AG, Basel
FAU - van Swieten, John C
AU  - van Swieten JC
AD  - Department of Neurology, Erasmus Medical Center, Rotterdam, The Netherlands. 
      j.c.vanswieten@erasmusmc.nl
FAU - Rosso, Sonia M
AU  - Rosso SM
FAU - van Herpen, Esther
AU  - van Herpen E
FAU - Kamphorst, Wouter
AU  - Kamphorst W
FAU - Ravid, Rivka
AU  - Ravid R
FAU - Heutink, Peter
AU  - Heutink P
LA  - eng
PT  - Journal Article
PT  - Review
PL  - Switzerland
TA  - Dement Geriatr Cogn Disord
JT  - Dementia and geriatric cognitive disorders
JID - 9705200
SB  - IM
MH  - *Chromosomes, Human, Pair 17
MH  - Dementia/*genetics
MH  - *Genetic Linkage
MH  - *Genetic Variation
MH  - Humans
MH  - Mutation
MH  - Parkinsonian Disorders/*genetics
MH  - Phenotype
RF  - 28
EDAT- 2004/06/05 05:00
MHDA- 2004/09/25 05:00
CRDT- 2004/06/05 05:00
PHST- 2004/06/05 05:00 [pubmed]
PHST- 2004/09/25 05:00 [medline]
PHST- 2004/06/05 05:00 [entrez]
AID - 77150 [pii]
AID - 10.1159/000077150 [doi]
PST - ppublish
SO  - Dement Geriatr Cogn Disord. 2004;17(4):261-4. doi: 10.1159/000077150.