Progressive supranuclear palsy in a family with TDP-43 pathology.
A member of a family with an autosomal dominant pattern of frontotemporal dementia (FTD) with a TDP-43 pathological substrate in other members and no mutations in FTD-associated genes developed behavioral variant FTD followed by Progressive Supranuclear Palsy. Autopsy revealed a pure tauopathy of PSP pattern.


CONCLUSIONS
The findings raise the possibility of shared pathogenic pathways and a proximal genetic abnormality between PSP and FTLD-43.
a Department of Clinical Neurological Sciences , Schulich School of Medicine and Dentistry, University of Western Ontario , 39 Doncaster Ave, London , ON , N6G 2A1 , Canada.
A
A
Kertesz
E
E
Finger
J
J
Murrell
H
H
Chertkow
L C
LC
Ang
M
M
Baker
T
T
Ravenscroft
R
R
Rademakers
D G
DG
Munoz
D001921:Brain / Q000473:pathology*; D004268:DNA-Binding Proteins / Q000378:metabolism; D005190:Family; D005260:Female; D057180:Frontotemporal Dementia / Q000150:complications* / Q000235:genetics / Q000473:pathology*; D006801:Humans; D008875:Middle Aged; D010375:Pedigree; D013494:Supranuclear Palsy, Progressive / Q000150:complications* / Q000473:pathology*; D016875:tau Proteins / Q000378:metabolism
D004268:DNA-Binding Proteins; C054369:MAPT protein, human; C000598624:TARDBP protein, human; D016875:tau Proteins
Progressive Supranuclear Palsy; frontotemporal dementia; genetics