期刊
ANNALS OF NEUROLOGY
卷 65, 期 4, 页码 470-474出版社
WILEY
DOI: 10.1002/ana.21612
关键词
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资金
- France Alzheimer Association
- Agence Nationale de la Recherche [R06363DS]
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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