Sequence analysis of tau in familial and sporadic progressive supranuclear palsy.
Progressive supranuclear palsy (PSP) is a tau deposition neurodegenerative disorder which usually occurs in sporadic form and is associated with a common variant of the tau gene. Rare familial forms of PSP have been described. Recently familial frontotemporal dementia linked to chromosome 17 (FTDP-17) has been shown to be due to mutations in tau and there may be a clinical and pathological overlap between PSP and FTDP-17. In this study we have analysed the tau sequence in two small families with PSP, and a number of clinically typical and atypical sporadic cases with pathological confirmation of the diagnosis. The tau mutations described in FTDP-17 were not found in the most clinically diagnosed patients with PSP. This suggests that usually FTDP-17 and PSP, including the rare familial form of PSP, are likely to be separate conditions and that usually PSP and typical PSP-like syndromes are not due to mutations in tau.
Morris
H R
HR
University Department of Clinical Neurology, Institute of Neurology, Queen Square, London WC1NBG, UK.
Katzenschlager
R
R
Janssen
J C
JC
Brown
J M
JM
Ozansoy
M
M
Quinn
N
N
Revesz
T
T
Rossor
M N
MN
Daniel
S E
SE
Wood
N W
NW
Lees
A J
AJ
D000368:Aged; D002886:Chromosomes, Human, Pair 17; D004252:DNA Mutational Analysis; D003704:Dementia / Q000175:diagnosis / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D017422:Sequence Analysis, DNA; D013494:Supranuclear Palsy, Progressive / Q000175:diagnosis / Q000235:genetics*; D016875:tau Proteins / Q000235:genetics*
D016875:tau Proteins