Sequence analysis of tau in familial and sporadic progressive supranuclear palsy

Morris, H. R., Katzenschlager, R, Janssen, J. C., Brown, J. M., Ozansoy, M., Quinn, M., Revesz, T., Rossor, M. N., Daniel, S. E., Wood, N. W. and Lees, A. J. 2002. Sequence analysis of tau in familial and sporadic progressive supranuclear palsy. Journal of Neurology, Neurosurgery and Psychiatry 72 (3) , pp. 388-390. 10.1136/jnnp.72.3.388

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Abstract

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.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Schools > Medicine
Subjects:	R Medicine > R Medicine (General)
Publisher:	BMJ Publishing Group
ISSN:	0022-3050
Last Modified:	10 Jan 2018 08:07
URI:	https://orca.cardiff.ac.uk/id/eprint/82507

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