Article

Sporadic corticobasal syndrome due to FTLD-TDP

University of California Department of Neurology San Francisco USA
Acta Neuropathologica (Impact Factor: 10.76). 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

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    • "(CBD) is the most frequent underlying pathology of CBS, other neuropathological causes, including frontotemporal lobar degeneration (FTLD), Alzheimer's disease (AD), progressive supranuclear palsy (PSP) and Creutzfeldt–Jakob disease have been reported (Boeve et al. 1999; Wadia and Lang 2007; Tartaglia et al. 2010). Although family history is usually negative in CBS (Spina et al. 2007), a familial form has been described which can be caused by progranulin (GRN) mutations (Wadia and Lang 2007; van Swieten and Heutink 2008). "
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