Progressive Supranuclear Palsy in a family with TDP-43 pathology

A. Kertesz; E. Finger; J. Murrell; H. Chertkow; L. C. Ang; M. Baker; T. Ravenscroft; R. Rademakers; D. G. Munoz

doi:10.1080/13554794.2013.878729

Progressive Supranuclear Palsy in a family with TDP-43 pathology

A. Kertesz, E. Finger, J. Murrell, H. Chertkow, L. C. Ang, M. Baker, T. Ravenscroft, R. Rademakers, D. G. Munoz

Neuroscience

Research output: Contribution to journal › Article › peer-review

6 Scopus citations

Abstract

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.

Original language	English (US)
Pages (from-to)	178-184
Number of pages	7
Journal	Neurocase
Volume	21
Issue number	2
DOIs	https://doi.org/10.1080/13554794.2013.878729
State	Published - Mar 4 2015

Keywords

Progressive Supranuclear Palsy
frontotemporal dementia
genetics

ASJC Scopus subject areas

Arts and Humanities (miscellaneous)
Clinical Neurology

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10.1080/13554794.2013.878729

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abstract = "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.",

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AU - Murrell, J.

AU - Chertkow, H.

AU - Ang, L. C.

AU - Baker, M.

AU - Ravenscroft, T.

AU - Rademakers, R.

AU - Munoz, D. G.

PY - 2015/3/4

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AB - 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.

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Progressive Supranuclear Palsy in a family with TDP-43 pathology

Abstract

Keywords

ASJC Scopus subject areas

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