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

Research output: Contribution to journalArticlepeer-review

45 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)365-374
Number of pages10
JournalActa neuropathologica
Volume119
Issue number3
DOIs
StatePublished - Mar 2010

Keywords

  • Corticobasal degeneration
  • Frontotemporal lobar degeneration
  • Progranulin
  • TDP-43

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Clinical Neurology
  • Cellular and Molecular Neuroscience

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