Sporadic corticobasal syndrome due to FTLD-TDP

MC Tartaglia, M Sidhu, V Laluz, C Racine… - Acta …, 2010 - Springer
MC Tartaglia, M Sidhu, V Laluz, C Racine, GD Rabinovici, K Creighton, A Karydas
Acta neuropathologica, 2010Springer
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 …
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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