Article

Sporadic corticobasal syndrome due to FTLD-TDP

University of California Department of Neurology San Francisco USA
Acta Neuropathologica (Impact Factor: 9.78). 03/2010; 119(3):365-374. DOI: 10.1007/s00401-009-0605-1

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.

KeywordsCorticobasal degeneration-TDP-43-Frontotemporal lobar degeneration-Progranulin

0 Bookmarks
 · 
160 Views

Full-text (2 Sources)

Download
19 Downloads
Available from
Jul 17, 2014