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- 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, and William W Seeley.
- Memory and Aging Center, Department of Neurology, University of California, 1207, 350 Parnassus Ave., Ste 905, San Francisco, CA 94143-1207, USA.
- Acta Neuropathol. 2010 Mar 1;119(3):365-74.
AbstractSporadic 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.
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