PMID- 12121033
OWN - NLM
STAT- MEDLINE
DCOM- 20020806
LR  - 20161021
IS  - 1641-4640 (Print)
IS  - 1509-572X (Linking)
VI  - 40
IP  - 1
DP  - 2002
TI  - Microtubule associated protein (tau) gene variability in patients with 
      frontotemporal dementia.
PG  - 1-5
AB  - Frontotemporal dementia represents up to 10% of all dementias and is, next to 
      Alzheimer's disease and Lewy body disease, the third most common cause of 
      degenerative dementia. The term "frontotemporal dementia" covers a range of 
      conditions, including Pick's disease, frontal lobe degeneration and dementia 
      associated with motor neurone disease. Neuropathologically FTD is characterised 
      by atrophy of the frontal and temporal lobes of the cerebral cortex, often with 
      additional subcortical changes. Both familial and more frequently sporadic forms 
      of FTD can be recognised. Recently, mutations in the microtubule-associated 
      protein (tau) gene have been found in families with frontotemporal dementia and 
      parkinsonism linked to chromosome 17 (FTDP-17). The identification of mutations 
      in the tau gene indicates that the protein plays a central role in the process of 
      neurodegeneration. Epidemiology of frontotemporal dementias in Poland remains 
      still unknown. A prevalence of tau mutations among Polish patients has not been 
      established yet. Here, we report results of a mutational analysis of the tau gene 
      among Polish FTD patients. No pathogenic mutation was found in the analysed 
      sample. The study confirmed that the frequency of tau mutations is very low and 
      depends strongly on the clinical criteria used to select patients. Mutations in 
      the tau gene account only for a small number of FTD cases with a clear autosomal 
      dominant pattern of disease inheritance. Therefore there should exist 
      additionalgenetic and non-genetic factors contributing to the pathogenesis of 
      both familial (linked and non-linked to chromosome 17) and sporadic forms of FTD.
FAU - Kowalska, Anna
AU  - Kowalska A
AD  - Institute of Human Genetics, Polish Academy of Sciences, Poznan. 
      annkowal@rose.man.poznan.pl
FAU - Takahashi, Keikichi
AU  - Takahashi K
FAU - Kozubski, Wojciech
AU  - Kozubski W
FAU - Tabira, Takeshi
AU  - Tabira T
LA  - eng
PT  - Journal Article
PL  - Poland
TA  - Folia Neuropathol
JT  - Folia neuropathologica
JID - 9437431
RN  - 0 (tau Proteins)
SB  - IM
MH  - Aged
MH  - Dementia/epidemiology/*genetics
MH  - Genetic Predisposition to Disease/genetics
MH  - Genetic Variation
MH  - Humans
MH  - Middle Aged
MH  - Poland/epidemiology
MH  - Polymorphism, Single-Stranded Conformational
MH  - Prevalence
MH  - tau Proteins/*genetics
EDAT- 2002/07/18 10:00
MHDA- 2002/08/07 10:01
CRDT- 2002/07/18 10:00
PHST- 2002/07/18 10:00 [pubmed]
PHST- 2002/08/07 10:01 [medline]
PHST- 2002/07/18 10:00 [entrez]
PST - ppublish
SO  - Folia Neuropathol. 2002;40(1):1-5.