Journal
ANNALS OF NEUROLOGY
Volume 65, Issue 4, Pages 470-474Publisher
WILEY
DOI: 10.1002/ana.21612
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Funding
- France Alzheimer Association
- Agence Nationale de la Recherche [R06363DS]
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TDP-43 (TAR-DNA binding protein) aggregates in neuronal inclusions in motoneuron disease (MND), as well as in frontotemporal lobar degeneration (FTLD) and FTLD associated with MND (FTLD-MND). Mutations in TARDBP gene, coding for TDP-43, were found in patients with pure MND. We now describe TARDBP mutations in two patients with FTLD-MND, presenting with a behavioral variant of FTLD and semantic dementia, suggesting that TDP-43 may also have a direct pathogenic role in FTLD disorders. Ann Neurol 2009;65:470-474
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