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01.03.2010 | Case Report

Sporadic corticobasal syndrome due to FTLD-TDP

verfasst von: 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

Erschienen in: Acta Neuropathologica | Ausgabe 3/2010

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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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Titel: Sporadic corticobasal syndrome due to FTLD-TDP
verfasst von: 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
Publikationsdatum: 01.03.2010
Verlag: Springer-Verlag
Erschienen in: Acta Neuropathologica / Ausgabe 3/2010
Print ISSN: 0001-6322
Elektronische ISSN: 1432-0533
DOI: https://doi.org/10.1007/s00401-009-0605-1

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