PMID- 10208578
OWN - NLM
STAT- MEDLINE
DCOM- 19990610
LR  - 20190718
IS  - 0959-4965 (Print)
IS  - 0959-4965 (Linking)
VI  - 10
IP  - 3
DP  - 1999 Feb 25
TI  - A distinct familial presenile dementia with a novel missense mutation in the tau 
      gene.
PG  - 497-501
AB  - We report a Japanese family with early onset hereditary frontotemporal dementia
      and a novel missense mutation (Ser305Asn) in the tau gene. The patients presented
      with personality changes followed by impaired cognition and memory as well as
      disorientation, but minimal Parkinsonism. Imaging studies showed fronto-temporal 
      atrophy with ventricular dilatation more on the left, and postmortem examination 
      of the brain revealed numerous neurofibrillary tangles (NFTs) with an unusual
      morphology and distribution. Silver-stained sections showed ring-shaped NFTs
      partially surrounding the nucleus that were most prominent in frontal, temporal, 
      insular and postcentral cortices, as well as in dentate gyrus. Cortical NFTs were
      restricted primarily to layer II, and were composed of straight tubules. Numerous
      glial cells containing coiled bodies and abundant neuropil threads were detected 
      in cerebral white matter, hippocampus, basal ganglia, diencephalon and brain
      stem, but no senile plaques or other diagnostic lesions were seen. Both the glial
      and neuronal tangles were stained by antibodies to phosphorylation-independent
      and phosphorylation-dependent epitopes in tau. Thus, this novel mutation causes a
      distinct familial tauopathy.
FAU - Iijima, M
AU  - Iijima M
AD  - Department of Neuropsychiatry, Shimane Medical University, Izumo, Japan.
FAU - Tabira, T
AU  - Tabira T
FAU - Poorkaj, P
AU  - Poorkaj P
FAU - Schellenberg, G D
AU  - Schellenberg GD
FAU - Trojanowski, J Q
AU  - Trojanowski JQ
FAU - Lee, V M
AU  - Lee VM
FAU - Schmidt, M L
AU  - Schmidt ML
FAU - Takahashi, K
AU  - Takahashi K
FAU - Nabika, T
AU  - Nabika T
FAU - Matsumoto, T
AU  - Matsumoto T
FAU - Yamashita, Y
AU  - Yamashita Y
FAU - Yoshioka, S
AU  - Yoshioka S
FAU - Ishino, H
AU  - Ishino H
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - England
TA  - Neuroreport
JT  - Neuroreport
JID - 9100935
RN  - 0 (tau Proteins)
SB  - IM
MH  - Adult
MH  - Amino Acid Sequence/genetics
MH  - Atrophy
MH  - Brain/metabolism/pathology
MH  - Dementia/*genetics/metabolism/pathology
MH  - Female
MH  - Humans
MH  - Male
MH  - Mutation, Missense/*genetics
MH  - Neurofibrillary Tangles/metabolism/pathology
MH  - Pedigree
MH  - tau Proteins/*genetics/metabolism
EDAT- 1999/04/20 00:00
MHDA- 1999/04/20 00:01
CRDT- 1999/04/20 00:00
PHST- 1999/04/20 00:00 [pubmed]
PHST- 1999/04/20 00:01 [medline]
PHST- 1999/04/20 00:00 [entrez]
AID - 10.1097/00001756-199902250-00010 [doi]
PST - ppublish
SO  - Neuroreport. 1999 Feb 25;10(3):497-501. doi: 10.1097/00001756-199902250-00010.