FUS mutations in frontotemporal lobar degeneration with amyotrophic lateral sclerosis.

Oriane Broustal , Agnès Camuzat (1) , Lena Guillot-Noël (1) , Nathalie Guy (2) , Stéphanie Millecamps (1) , Didier Deffond , Lucette Lacomblez (3) , Véronique Golfier , Didier Hannequin (4) , François Salachas (5) , William Camu (6) , Mira Didic (7) , Bruno Dubois (1) , Vincent Meininger (5) , Isabelle Le Ber (1) , Alexis Brice (1, 8) , French Clinical And Genetic Research Network On Ftd/ftd-Mnd (9)

1 CRICM - Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière
2 Neuro-Dol - Neuro-Dol
3 LIF - Laboratoire d'Imagerie Fonctionnelle
4 GMFC - Génétique du cancer et des maladies neuropsychiatriques
5 Fédération des Maladies du Système Nerveux
6 SLA CHRU Montpellier - Centre référent Sclérose Latérale Amyotrophique [CHRU Montpellier]
7 Service de neurologie et de neuropsychologie
8 Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière]
9 NETEC - Neuroépidémiologie Tropicale et Comparée

Rapid advances were made in the knowledge of amyotrophic lateral sclerosis (ALS) with the recent identification of TARDBP and FUS mutations in familial ALS. More recently, FUS-positive inclusions were found in a subset of TDP-43-negative frontotemporal lobar degeneration (FTLD) prompting us to analyze FUS in FTLD and FTLD-ALS patients. The p.Arg521His mutation was identified in a patient who initially had behavioral disorders and rapidly developed ALS. Although the frequency of mutations is low, our study enlarges the phenotypes associated with FUS mutations and shows that FUS could also play a direct pathogenic role in FTLD spectrum of diseases.

Domaines: Sciences du Vivant [q-bio]; Santé publique et épidémiologie

Oriane Broustal, Agnès Camuzat, Lena Guillot-Noël, Nathalie Guy, Stéphanie Millecamps, et al.. FUS mutations in frontotemporal lobar degeneration with amyotrophic lateral sclerosis.. Journal of Alzheimer's Disease, 2010, 22 (3), pp.765-9. ⟨hal-00926874⟩