PT - JOURNAL ARTICLE AU - H R Morris AU - R Katzenschlager AU - J C Janssen AU - J M Brown AU - M Ozansoy AU - N Quinn AU - T Revesz AU - M N Rossor AU - S E Daniel AU - N W Wood AU - A J Lees TI - Sequence analysis of <em>tau</em> in familial and sporadic progressive supranuclear palsy AID - 10.1136/jnnp.72.3.388 DP - 2002 Mar 01 TA - Journal of Neurology, Neurosurgery &amp; Psychiatry PG - 388--390 VI - 72 IP - 3 4099 - http://jnnp.bmj.com/content/72/3/388.short 4100 - http://jnnp.bmj.com/content/72/3/388.full SO - J Neurol Neurosurg Psychiatry2002 Mar 01; 72 AB - 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.