PMID- 19938685
OWN - NLM
STAT- MEDLINE
DCOM- 20100121
LR  - 20091126
IS  - 1881-6096 (Print)
IS  - 1881-6096 (Linking)
VI  - 61
IP  - 11
DP  - 2009 Nov
TI  - [Clinical, pathological, and genetic characteristics of frontotemporal dementia 
      and parkinsonism linked to chromosome 17 with mutations in the MAPT and PGRN].
PG  - 1285-91
AB  - We reviewed the clinical, neuropathological, and genetic findings in patients 
      with frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) 
      with mutations in microtubule-associated protein tau (MAPT) and progranulin 
      (PGRN). Research on FTDP-17 has greatly progressed over the years. Clinically, 
      FTDP-17 is clinically characterized by autosomal dominant frontotemporal 
      dementia, with or without parkinsonism. Two pathological variants of FTDP-17 are 
      seen: one characterized by tau aggregation in neurons and glial cells, and the 
      other, by ubiquitin-positive inclusions in neurons. Mutations in the MAPT gene 
      have been identified as a cause of familial tau-positive FTDP-17 (MAPT), whereas 
      mutations in the gene encoding PGRN, which is located 1.7 Mb from the MAPT gene 
      on chromosome 17, have been identified in familial ubiquitin-positive FTDP-17 
      (PGRN). Recent studies have identified 44 different mutations in more than 100 
      families with FTDP-17 (MAPT), and 66 different mutations in more than 100 
      families with FTDP-17 (PGRN). Although cases of FTDP-17 have been reported 
      worldwide, FTDP-17 (PGRN) has not yet been seen in Japan. The discovery of 
      monogenic forms of neurodegenerative diseases is important for understanding the 
      pathogenesis of these diseases. The findings of future research may facilitate 
      the understanding of the causes of FTDP, and further improve diagnostic tools and 
      help develop novel preventive methods and treatments for not only the genetic but 
      also the sporadic form of neurodegenerative disorders.
FAU - Tsuboi, Yoshio
AU  - Tsuboi Y
AD  - Department of Neurology, Fukuoka University, 7-45-1 Nanakuma, Johnan-ku, Fukuoka, 
      814-0180, Japan.
LA  - jpn
PT  - English Abstract
PT  - Journal Article
PT  - Review
PL  - Japan
TA  - Brain Nerve
JT  - Brain and nerve = Shinkei kenkyu no shinpo
JID - 101299709
SB  - IM
MH  - Chromosomes, Human, Pair 17/*genetics
MH  - Frontotemporal Dementia/*genetics/pathology/physiopathology
MH  - Humans
MH  - Mutation
MH  - Parkinsonian Disorders/*genetics/pathology/physiopathology
RF  - 38
EDAT- 2009/11/27 06:00
MHDA- 2010/01/22 06:00
CRDT- 2009/11/27 06:00
PHST- 2009/11/27 06:00 [entrez]
PHST- 2009/11/27 06:00 [pubmed]
PHST- 2010/01/22 06:00 [medline]
PST - ppublish
SO  - Brain Nerve. 2009 Nov;61(11):1285-91.