FUS Mutations in Frontotemporal Lobar Degeneration with Amyotrophic Lateral Sclerosis

被引：80

作者：

Broustal, Oriane ^{[1
]}

Camuzat, Agnes ^{[1
]}

Guillot-Noel, Lena ^{[1
]}

Guy, Nathalie ^{[2
,3
]}

Millecamps, Stephanie ^{[1
]}

Deffond, Didier ^{[2
,4
,8
]}

Lacomblez, Lucette ^{[5
]}

Golfier, Veronique ^{[6
]}

Hannequin, Didier ^{[7
]}

Salachas, Francois ^{[5
]}

Camu, William ^{[9
]}

Didic, Mira ^{[10
,11
]}

Dubois, Bruno ^{[5
,12
,13
,14
]}

Meininger, Vincent ^{[5
]}

Le Ber, Isabelle ^{[1
,5
,13
]}

Brice, Alexis ^{[1
,5
,12
,13
,15
]}

机构：

[1] Hop La Pitie Salpetriere, INSERM, CRicm UMRS 975, 47 Blvd Hop, F-75651 Paris 13, France

[2] CHU Clermont Ferrand, Serv Neurol, Clermont Ferrand, France

[3] Hop Estaing Clermont Ferrand, Fac Chirurg Dent Clermont Ferrand, Neurobiol Douleur Trigeminale U929, Clermont Ferrand, France

[4] CMRR CHU Clermont Ferrand, Clermont Ferrand, France

[5] Hop La Pitie Salpetriere, Dept Malad Syst Nerveux, F-75651 Paris 13, France

[6] CHU Pontchaillou, Serv Neurol, Rennes, France

[7] CHU Charles Nicolle, INSERM, U614, Rouen, France

[8] CHU Charles Nicolle, Dept Neurol, Rouen, France

[9] CHU Guy De Chauliac, Serv Neurol, Montpellier, France

[10] Univ Mediterranee, Hop Timone, Serv Neurol & Neuropsychol, Marseille, France

[11] Univ Mediterranee, INSERM, U751, Marseille, France

[12] Hop La Pitie Salpetriere, Ctr Reference Demences Rares, F-75651 Paris 13, France

[13] Univ Paris 06, Paris, France

[14] Hop La Pitie Salpetriere, INSERM, U610, F-75651 Paris 13, France

[15] Hop La Pitie Salpetriere, Dept Genet Cytogenet & Embryol, F-75651 Paris 13, France

来源：

JOURNAL OF ALZHEIMERS DISEASE | 2010年 / 22卷 / 03期

关键词：

Amyotrophic lateral sclerosis; frontotemporal dementia; frontotemporal lobar degeneration; FUS; FUS/TLS; MND; TARDBP; TDP-43; TARDBP;

D O I：

10.3233/JAD-2010-100837

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

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.

引用

页码：765 / 769

页数：5

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