Acta Neuropathologica

, Volume 119, Issue 3, pp 365–374

Sporadic corticobasal syndrome due to FTLD-TDP

  • Maria Carmela Tartaglia
  • Manu Sidhu
  • Victor Laluz
  • Caroline Racine
  • Gil D. Rabinovici
  • Kelly Creighton
  • Anna Karydas
  • Rosa Rademakers
  • Eric J. Huang
  • Bruce L. Miller
  • Stephen J. DeArmond
  • William W. Seeley
Case Report

Abstract

Sporadic corticobasal syndrome (CBS) has been associated with diverse pathological substrates, but frontotemporal lobar degeneration with TDP-43 immunoreactive inclusions (FTLD-TDP) has only been linked to CBS among progranulin mutation carriers. We report the clinical, neuropsychological, imaging, genetic, and neuropathological features of GS, a patient with sporadic corticobasal syndrome. Genetic testing revealed no mutations in the microtubule associated protein tau or progranulin (PGRN) genes, but GS proved homozygous for the T allele of the rs5848 PGRN variant. Autopsy showed ubiquitin and TDP-43 pathology most similar to a pattern previously associated with PGRN mutation carriers. These findings confirm that FTLD-TDP should be included in the pathological differential diagnosis for sporadic CBS.

Keywords

Corticobasal degeneration TDP-43 Frontotemporal lobar degeneration Progranulin 

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Copyright information

© Springer-Verlag 2009

Authors and Affiliations

  • Maria Carmela Tartaglia
    • 1
    • 2
  • Manu Sidhu
    • 1
    • 2
  • Victor Laluz
    • 1
    • 2
  • Caroline Racine
    • 1
    • 2
  • Gil D. Rabinovici
    • 1
    • 2
  • Kelly Creighton
    • 1
    • 2
  • Anna Karydas
    • 1
    • 2
  • Rosa Rademakers
    • 4
  • Eric J. Huang
    • 3
  • Bruce L. Miller
    • 1
    • 2
  • Stephen J. DeArmond
    • 3
  • William W. Seeley
    • 1
    • 2
  1. 1.Memory and Aging CenterUniversity of CaliforniaSan FranciscoUSA
  2. 2.Department of NeurologyUniversity of CaliforniaSan FranciscoUSA
  3. 3.Department of PathologyUniversity of CaliforniaSan FranciscoUSA
  4. 4.Department of NeuroscienceMayo ClinicJacksonvilleUSA

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