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, Rosa V Rademakers, D. G. Munoz

Research output: Contribution to journalArticle

4 Citations (Scopus)

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 languageEnglish (US)
Pages (from-to)178-184
Number of pages7
JournalNeurocase
Volume21
Issue number2
DOIs
StatePublished - Mar 4 2015

Fingerprint

Progressive Supranuclear Palsy
Frontotemporal Dementia
Pathology
Frontotemporal Lobar Degeneration
Tauopathies
Autopsy
Mutation
Genes
Primary Spontaneous Pneumothorax

Keywords

  • frontotemporal dementia
  • genetics
  • Progressive Supranuclear Palsy

ASJC Scopus subject areas

  • Clinical Neurology
  • Arts and Humanities (miscellaneous)

Cite this

Kertesz, A., Finger, E., Murrell, J., Chertkow, H., Ang, L. C., Baker, M., ... Munoz, D. G. (2015). Progressive Supranuclear Palsy in a family with TDP-43 pathology. Neurocase, 21(2), 178-184. https://doi.org/10.1080/13554794.2013.878729

Progressive Supranuclear Palsy in a family with TDP-43 pathology. / Kertesz, A.; Finger, E.; Murrell, J.; Chertkow, H.; Ang, L. C.; Baker, M.; Ravenscroft, T.; Rademakers, Rosa V; Munoz, D. G.

In: Neurocase, Vol. 21, No. 2, 04.03.2015, p. 178-184.

Research output: Contribution to journalArticle

Kertesz, A, Finger, E, Murrell, J, Chertkow, H, Ang, LC, Baker, M, Ravenscroft, T, Rademakers, RV & Munoz, DG 2015, 'Progressive Supranuclear Palsy in a family with TDP-43 pathology', Neurocase, vol. 21, no. 2, pp. 178-184. https://doi.org/10.1080/13554794.2013.878729
Kertesz A, Finger E, Murrell J, Chertkow H, Ang LC, Baker M et al. Progressive Supranuclear Palsy in a family with TDP-43 pathology. Neurocase. 2015 Mar 4;21(2):178-184. https://doi.org/10.1080/13554794.2013.878729
Kertesz, A. ; Finger, E. ; Murrell, J. ; Chertkow, H. ; Ang, L. C. ; Baker, M. ; Ravenscroft, T. ; Rademakers, Rosa V ; Munoz, D. G. / Progressive Supranuclear Palsy in a family with TDP-43 pathology. In: Neurocase. 2015 ; Vol. 21, No. 2. pp. 178-184.
@article{e8792deb709142cc998f550577d3da06,
title = "Progressive Supranuclear Palsy in a family with TDP-43 pathology",
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.",
keywords = "frontotemporal dementia, genetics, Progressive Supranuclear Palsy",
author = "A. Kertesz and E. Finger and J. Murrell and H. Chertkow and Ang, {L. C.} and M. Baker and T. Ravenscroft and Rademakers, {Rosa V} and Munoz, {D. G.}",
year = "2015",
month = "3",
day = "4",
doi = "10.1080/13554794.2013.878729",
language = "English (US)",
volume = "21",
pages = "178--184",
journal = "Neurocase",
issn = "1355-4794",
publisher = "Psychology Press Ltd",
number = "2",

}

TY - JOUR

T1 - Progressive Supranuclear Palsy in a family with TDP-43 pathology

AU - Kertesz, A.

AU - Finger, E.

AU - Murrell, J.

AU - Chertkow, H.

AU - Ang, L. C.

AU - Baker, M.

AU - Ravenscroft, T.

AU - Rademakers, Rosa V

AU - Munoz, D. G.

PY - 2015/3/4

Y1 - 2015/3/4

N2 - 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.

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.

KW - frontotemporal dementia

KW - genetics

KW - Progressive Supranuclear Palsy

UR - http://www.scopus.com/inward/record.url?scp=84920521649&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84920521649&partnerID=8YFLogxK

U2 - 10.1080/13554794.2013.878729

DO - 10.1080/13554794.2013.878729

M3 - Article

VL - 21

SP - 178

EP - 184

JO - Neurocase

JF - Neurocase

SN - 1355-4794

IS - 2

ER -