TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration
L Benajiba, I Le Ber, A Camuzat, M Lacoste… - Annals of …, 2009 - Wiley Online Library
L Benajiba, I Le Ber, A Camuzat, M Lacoste, C Thomas‐Anterion, P Couratier, S Legallic…
Annals of neurology, 2009•Wiley Online LibraryAbstract 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 …
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 …
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. Ann Neurol 2009;65:470–474
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