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.
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Acknowledgments
We thank Giovanni Coppola for assistance with the progranulin mRNA analysis. This study was supported by National Institute on Aging (NIA, grants P01 AG19724-01A1, P50 AG1657303-75271).
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Tartaglia, M.C., Sidhu, M., Laluz, V. et al. Sporadic corticobasal syndrome due to FTLD-TDP. Acta Neuropathol 119, 365–374 (2010). https://doi.org/10.1007/s00401-009-0605-1
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DOI: https://doi.org/10.1007/s00401-009-0605-1