PMID- 12111297
OWN - NLM
STAT- MEDLINE
DCOM- 20020920
LR  - 20091119
IS  - 0340-5354 (Print)
IS  - 0340-5354 (Linking)
VI  - 249
IP  - 6
DP  - 2002 Jun
TI  - Contrasting genotypes of the tau gene in two phenotypically distinct patients 
      with P301L mutation of frontotemporal dementia and parkinsonism linked to 
      chromosome 17.
PG  - 669-75
AB  - Association between clinical characteristics and types of the tau gene mutation 
      has been observed in frontotemporal dementia and parkinsonism linked to 
      chromosome 17 (FTDP-17). P301L mutation seldom causes parkinsonism as a leading 
      symptom; instead it usually causes personality changes with aggressiveness and 
      disinhibition. We experienced two patients of FTDP-17 from separate families 
      (designated as patient 1 from family 1 and patient 2 from family 2). They had 
      P301L mutation in common. However, their phenotypes were distinct from each 
      other. Aggressive behaviors and disinhibition were the main symptoms in patient 
      1, whereas parkinsonism was the most prominent feature in patient 2. Their 
      genotypes of the tau gene were different at three sites, i. e. in exon 6, in 
      intron segment before exon 10, and in exon 13, though they do not bring amino 
      acid change. Patient 1 had more prevalent C/C, C/C, and rare T/C respectively. 
      Patient 2 had less prevalent T/T, A/A, and more prevalent T/T respectively. These 
      findings suggest two things. Firstly, they do not share a common founder for 
      P301L mutation. Secondly, either of the two less prevalent genotypes observed in 
      patient 2 may be the factor to modify the phenotype of P301L mutation into those 
      unusual clinical features with prominent parkinsonism. Accumulation of 
      information as to phenotype-genotype association will settle this hypothesis.
FAU - Kobayashi, Tomonori
AU  - Kobayashi T
AD  - Department of Neurology, Juntendo University School of Medicine, 2-1-1 Hongo, 
      Bunkyo-ku, Tokyo 113-8421, Japan. tomo@med.juntendo.ac.jp
FAU - Mori, Hideo
AU  - Mori H
FAU - Okuma, Yasuyuki
AU  - Okuma Y
FAU - Dickson, Dennis W
AU  - Dickson DW
FAU - Cookson, Natalie
AU  - Cookson N
FAU - Tsuboi, Yoshio
AU  - Tsuboi Y
FAU - Motoi, Yumiko
AU  - Motoi Y
FAU - Tanaka, Ryota
AU  - Tanaka R
FAU - Miyashita, Nobuo
AU  - Miyashita N
FAU - Anno, Midori
AU  - Anno M
FAU - Narabayashi, Hirotaro
AU  - Narabayashi H
FAU - Mizuno, Yoshikuni
AU  - Mizuno Y
LA  - eng
PT  - Case Reports
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Germany
TA  - J Neurol
JT  - Journal of neurology
JID - 0423161
RN  - 0 (tau Proteins)
SB  - IM
MH  - Age of Onset
MH  - Amino Acid Sequence/genetics
MH  - Base Sequence/genetics
MH  - Brain/*metabolism/pathology/physiopathology
MH  - Chromosomes, Human, Pair 17/*genetics
MH  - DNA Mutational Analysis
MH  - Dementia/complications/*genetics/metabolism
MH  - Exons/*genetics
MH  - Female
MH  - Gene Frequency
MH  - Genetic Testing
MH  - Genotype
MH  - Humans
MH  - Japan
MH  - Male
MH  - Mental Disorders/genetics/physiopathology
MH  - Middle Aged
MH  - Mutation/*genetics
MH  - Parkinsonian Disorders/complications/*genetics/metabolism
MH  - Pedigree
MH  - Phenotype
MH  - Polymorphism, Genetic/genetics
MH  - tau Proteins/*genetics/metabolism
EDAT- 2002/07/12 10:00
MHDA- 2002/09/21 10:01
CRDT- 2002/07/12 10:00
PHST- 2002/07/12 10:00 [pubmed]
PHST- 2002/09/21 10:01 [medline]
PHST- 2002/07/12 10:00 [entrez]
AID - 10.1007/s00415-002-0687-3 [doi]
PST - ppublish
SO  - J Neurol. 2002 Jun;249(6):669-75. doi: 10.1007/s00415-002-0687-3.