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TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration
Author(s) -
Benajiba Lina,
Le Ber Isabelle,
Camuzat Agnès,
Lacoste Mathieu,
ThomasAnterion Catherine,
Couratier Philippe,
Legallic Solenn,
Salachas François,
Hannequin Didier,
Decousus Marielle,
Lacomblez Lucette,
Guedj Eric,
Golfier Véronique,
Camu William,
Dubois Bruno,
Campion Dominique,
Meininger Vincent,
Brice Alexis
Publication year - 2009
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.21612
Subject(s) - frontotemporal lobar degeneration , tardbp , frontotemporal dementia , semantic dementia , amyotrophic lateral sclerosis , c9orf72 , dementia , medicine , mutation , disease , pathology , neuroscience , genetics , biology , gene
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