PMID- 12572916
OWN - NLM
STAT- MEDLINE
DCOM- 20030307
LR  - 20161021
IS  - 1641-4640 (Print)
IS  - 1509-572X (Linking)
VI  - 40
IP  - 3
DP  - 2002
TI  - Molecular genetics of frontotemporal dementia and parkinsonism linked to 
      chromosome 17 (FTDP-17).
PG  - 111-8
AB  - Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) is 
      characterised by behavioural, cognitive and motor disturbances. Pathological 
      changes in the brain include fronto-temporal atrophy with neuronal loss, grey 
      white matter gliosis and superficial cortical spongiform. In addition, 
      intraneuronal tau inclusions with the variable occurrence of glial inclusions are 
      present in FTDP-17 brains. The pattern of inheritance in FTDP-17 is autosomal 
      dominant with an early age of onset (45-65 years). The identification of 
      mutations in the tau gene in FTDP-17 demonstrated that there is a direct link 
      between tau dysfunction and neurodegeneration. To date, 14 missense mutations, a 
      three base pair deletion (deltaK280) and seven splice site mutations have been 
      found in over 50 FTDP-17 families from different ethnic groups. All of the known 
      mutations occur in the C-terminal end of tau, with the majority affecting exons 
      9-12, which encode the microtubule-binding repeats. The mutations have multiple 
      effects on the biology and function of tau. These varied pathogenic mechanisms 
      most likely explain the wide range of clinical and neuropathological features 
      observed in different families with FTDP-17.
FAU - Kowalska, Anna
AU  - Kowalska A
AD  - Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland. 
      annkowal@rose.man.poznan.pl
LA  - eng
PT  - Journal Article
PT  - Review
PL  - Poland
TA  - Folia Neuropathol
JT  - Folia neuropathologica
JID - 9437431
RN  - 0 (MAPT protein, human)
RN  - 0 (Microtubule-Associated Proteins)
RN  - 0 (tau Proteins)
SB  - IM
MH  - *Chromosomes, Human, Pair 17
MH  - Dementia/classification/*genetics
MH  - Genetic Linkage
MH  - Humans
MH  - Microtubule-Associated Proteins
MH  - Mutation
MH  - Parkinsonian Disorders/*genetics
MH  - Phosphorylation
MH  - tau Proteins/*genetics/metabolism
RF  - 81
EDAT- 2003/02/08 04:00
MHDA- 2003/03/08 04:00
CRDT- 2003/02/08 04:00
PHST- 2003/02/08 04:00 [pubmed]
PHST- 2003/03/08 04:00 [medline]
PHST- 2003/02/08 04:00 [entrez]
PST - ppublish
SO  - Folia Neuropathol. 2002;40(3):111-8.