TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration
✍ Scribed by Lina Benajiba; Isabelle Le Ber; Agnès Camuzat; Mathieu Lacoste; Catherine Thomas-Anterion; Philippe Couratier; Solenn Legallic; François Salachas; Didier Hannequin; Marielle Decousus; Lucette Lacomblez; Eric Guedj; Véronique Golfier; William Camu; Bruno Dubois; Dominique Campion; Vincent Meininger; Alexis Brice
- Publisher
- John Wiley and Sons
- Year
- 2009
- Tongue
- English
- Weight
- 280 KB
- Volume
- 65
- Category
- Article
- ISSN
- 0364-5134
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✦ Synopsis
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