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Ann Neurol. 2009 Apr;65(4):470-3. doi: 10.1002/ana.21612.

TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration.

Author information

1
Institut National de la Santé et de la Recherche Médicale UMRS975 CRicm (formerly INSERM UMR_S679), F-75013, Paris, France.

Abstract

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.

PMID:
19350673
DOI:
10.1002/ana.21612
[Indexed for MEDLINE]

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