TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration.
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.
Institut National de la Santé et de la Recherche Médicale UMRS975 CRicm (formerly INSERM UMR_S679), F-75013, Paris, France.
Lina
L
Benajiba
Isabelle
I
Le Ber
Agnès
A
Camuzat
Mathieu
M
Lacoste
Catherine
C
Thomas-Anterion
Philippe
P
Couratier
Solenn
S
Legallic
François
F
Salachas
Didier
D
Hannequin
Marielle
M
Decousus
Lucette
L
Lacomblez
Eric
E
Guedj
Véronique
V
Golfier
William
W
Camu
Bruno
B
Dubois
Dominique
D
Campion
Vincent
V
Meininger
Alexis
A
Brice
D000328:Adult; D000368:Aged; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D003704:Dementia / Q000150:complications* / Q000235:genetics*; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D016472:Motor Neuron Disease / Q000150:complications* / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010649:Phenylalanine / Q000235:genetics
D004268:DNA-Binding Proteins; D010649:Phenylalanine