PMID- 12684990
OWN - NLM
STAT- MEDLINE
DCOM- 20030606
LR  - 20070222
IS  - 0006-8969 (Print)
IS  - 0006-8969 (Linking)
VI  - 55
IP  - 2
DP  - 2003 Feb
TI  - [Japanese contribution to the understanding of frontotemporal dementia and 
      parkinsonism linked to chromosome 17(FTDP-17)].
PG  - 107-19
AB  - Since the original description of frontotemporal dementia and parkinsonism linked 
      to chromosome 17 (FTDP-17) during the Consensus Conference held in Ann Arbor, 
      Michigan in 1996, it has become apparent that this syndrome has worldwide 
      distribution. More than 70 families have been described in North America, Europe, 
      Australia and Asia. The molecular genetic studies have identified 29 mutations 
      outside and on exon 10 of tau gene. Here, we report the progress in clinical, 
      genetic and pathological studies of FTDP-17 in Japan. There have been 
      15-separetely ascertained families described in Japan. These kindreds harbor 
      following tau mutations: exon 10, exonic mutations, N 279 K, N 296 H, P 301 L and 
      P 301 S; exon 10 5' splice-site mutations, S 305 N (-2), +11, and +12; exon 1, R 
      5 H mutation; exon 9, L 266 V mutation; and exon 13, R 406 W mutation. The 
      phenotype of FTDP-17 kindreds varies significantly between families with 
      different mutations and among the families carrying the same mutation. This 
      variability is also seen in Japanese kindreds. Exon 10, P 301 L, +16 and N 279 K 
      mutations are the most common but only P 301 L and N 279 K mutations have been 
      described so far in Japan. On the other hand, R 5 H, N 296 H, +11, and +12 
      mutations have not been identified outside of Japan. Comparison of phenotypes of 
      Japanese and non-Japanese families with P 301 S, P 301 L and R 406 W mutations 
      uncovers significant differences in clinical presentations. It is difficult to 
      compare pathology of Japanese and non-Japanese families on the basis of available 
      medical literature but no apparent differences can be seen. Autopsies demonstrate 
      the presence of neuronal and glial tau inclusions and ballooned neurons, 
      frequently in the distribution seen in other sporadic tauopathies. A search for 
      the common founder in Japanese families may be successfully performed. FTDP-17 
      families have been identified with increasing frequency in Japan. The discovery 
      of tau mutations and the fact that they are responsible for the disease processes 
      in the brain lead to the major advancement of our understanding of 
      neurodegeneration. It is hoped that future studies of these families will also 
      lead to finding the curative treatments for the tauopathies.
FAU - Tsuboi, Yoshio
AU  - Tsuboi Y
AD  - Mayo Clinic Jacksonville, Department of Neurology, 4500 San Pablo Road, 
      Jacksonville, Florida 32224, USA.
FAU - Wszolek, Zbigniew K
AU  - Wszolek ZK
FAU - Mizuno, Yoshikuni
AU  - Mizuno Y
FAU - Kobayashi, Tomonori
AU  - Kobayashi T
FAU - Yasuda, Minoru
AU  - Yasuda M
FAU - Yamada, Tatsuo
AU  - Yamada T
LA  - jpn
PT  - English Abstract
PT  - Journal Article
PT  - Review
PL  - Japan
TA  - No To Shinkei
JT  - No to shinkei = Brain and nerve
JID - 0413550
RN  - 0 (MAPT protein, human)
RN  - 0 (Microtubule-Associated Proteins)
RN  - 0 (tau Proteins)
SB  - IM
MH  - *Chromosomes, Human, Pair 17
MH  - Dementia/epidemiology/*genetics
MH  - Exons/genetics
MH  - Humans
MH  - Japan/epidemiology
MH  - Microtubule-Associated Proteins/*genetics
MH  - *Mutation
MH  - Neurodegenerative Diseases/genetics
MH  - Parkinsonian Disorders/epidemiology/*genetics
MH  - Phenotype
MH  - Supranuclear Palsy, Progressive/genetics
MH  - tau Proteins/genetics
RF  - 54
EDAT- 2003/04/11 05:00
MHDA- 2003/06/07 05:00
CRDT- 2003/04/11 05:00
PHST- 2003/04/11 05:00 [pubmed]
PHST- 2003/06/07 05:00 [medline]
PHST- 2003/04/11 05:00 [entrez]
PST - ppublish
SO  - No To Shinkei. 2003 Feb;55(2):107-19.