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Sequence analysis of tau in familial and sporadic progressive supranuclear palsy

Morris, HR; Katzenschlager, R; Janssen, JC; Brown, JM; Ozansoy, M; Quinn, N; Revesz, T; ... Lees, AJ; + view all (2002) Sequence analysis of tau in familial and sporadic progressive supranuclear palsy. J NEUROL NEUROSUR PS , 72 (3) 388 - 390.

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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 Inked 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.

Type: Article
Title: Sequence analysis of tau in familial and sporadic progressive supranuclear palsy
Keywords: RICHARDSON-OLSZEWSKI-SYNDROME, MULTIPLE-SYSTEM TAUOPATHY, FRONTOTEMPORAL DEMENTIA, PRESENILE-DEMENTIA, EXON 10, NEURODEGENERATIVE DISEASES, GENETIC-EVIDENCE, 2 SIBLINGS, MUTATION, CHROMOSOME-17
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Movement Neurosciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Neurodegenerative Diseases
URI: http://discovery.ucl.ac.uk/id/eprint/168980
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