TARDBP Mutations in Motoneuron Disease with Frontotemporal Lobar Degeneration

被引：243

作者：

Benajiba, Lina ^{[1
,2
,3
]}

Le Ber, Isabelle ^{[1
,2
,4
,5
]}

Camuzat, Agnes ^{[1
,2
]}

Lacoste, Mathieu ^{[6
]}

Thomas-Anterion, Catherine ^{[7
]}

Couratier, Philippe ^{[6
]}

Legallic, Solenn ^{[8
]}

Salachas, Francois ^{[5
]}

Hannequin, Didier ^{[8
]}

Decousus, Marielle ^{[9
]}

Lacomblez, Lucette ^{[5
,10
]}

Guedj, Eric ^{[11
]}

Golfier, Veronique ^{[12
]}

Camu, William ^{[13
]}

Dubois, Bruno ^{[4
,5
,14
,15
]}

Campion, Dominique ^{[8
]}

Meininger, Vincent ^{[5
]}

Brice, Alexis ^{[1
,2
,4
,5
,16
]}

机构：

[1] Univ Paris 06, INSERM, CRicm UMRS975, F-75013 Paris, France

[2] Univ Paris 06, CRicm UMRS975, F-75005 Paris, France

[3] Univ Paris 06, INSERM, MD PhD Program, F-75013 Paris, France

[4] Hop La Pitie Salpetriere, AP HP, Ctr References Demences Rares, F-75013 Paris, France

[5] Hop La Pitie Salpetriere, AP HP, Fed Malad Syst Nerveux, F-75013 Paris, France

[6] CHU, Serv Neurol, F-87000 Limoges, France

[7] CHU Bellevue, Serv Neurol, F-42000 St Etienne, France

[8] CHU Charles Nicolle, INSERM, Dept Neurol, U614, F-76000 Rouen, France

[9] CHU Bellevue, Nucl Med Serv, F-42000 St Etienne, France

[10] Univ Paris 06, F-75005 Paris, France

[11] Univ Mediterranee, Ctr Explorat Metab Resonance Magnet, CNRS, UMR 6612, F-13000 Marseille, France

[12] CHU, Serv Neurol, F-35000 Rennes, France

[13] Hop Gui De Chauliac, Serv Neurol, F-34000 Montpellier, France

[14] INSERM, CRicm UMRS975, F-75013 Paris, France

[15] Univ Paris 06, CRicm UMRS975, F-75005 Paris, France

[16] Hop La Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, F-75013 Paris, France

来源：

ANNALS OF NEUROLOGY | 2009年 / 65卷 / 04期

关键词：

AMYOTROPHIC-LATERAL-SCLEROSIS; MOTOR-NEURON DISEASE; TDP-43; DEMENTIA; CRITERIA;

D O I：

10.1002/ana.21612

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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

引用

页码：470 / 474

页数：5

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