Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype

被引：28

作者：

Clot, Fabienne ^{[1
]}

Grabli, David ^{[2
]}

Burbaud, Pierre ^{[3
]}

Aya, Magali ^{[4
]}

Derkinderen, Pascal ^{[5
]}

Defebvre, Luc ^{[6
]}

Damier, Philippe ^{[5
]}

Krystkowiak, Pierre ^{[7
]}

Pollak, Pierre ^{[4
]}

Leguern, Eric ^{[1
]}

San, Chan ^{[1
]}

Camuzat, Agnes ^{[2
]}

Roze, Emmanuel ^{[2
]}

Vidailhet, Marie ^{[2
]}

Durr, Alexandra ^{[1
,2
]}

Brice, Alexis ^{[1
,2
]}

机构：

[1] Grp Hosp Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, F-75634 Paris, France

[2] Univ Paris 06, CRICM INSERM UMRS975, CNRS UMR 7225, Paris, France

[3] CHU Bordeaux, Serv Neurophysiol Clin, Bordeaux, France

[4] CHU Grenoble, Serv Neurol, F-38043 Grenoble, France

[5] CHU Nantes, CIC0004, INSERM, F-44035 Nantes 01, France

[6] CHU Lille, CNRS FRE 3291, Serv Neurol, F-59037 Lille, France

[7] CHU Amiens, CNRS FRE 3291, Serv Neurol, Amiens, France

来源：

NEUROGENETICS | 2011年 / 12卷 / 01期

关键词：

MUTATIONS; DYT6;

D O I：

10.1007/s10048-010-0264-3

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：87 / 89

页数：3

共 6 条

[1] Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study [J].

Bressman, Susan B. ;

Raymond, Deborah ;

Fuchs, Tania ;

Heiman, Gary A. ;

Ozelius, Laurie ;

Saunders-Pullman, Rachel .

LANCET NEUROLOGY, 2009, 8 (05) :441-446

[2] Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study [J].

Djarmati, Ana ;

Schneider, Susanne A. ;

Lohmann, Katja ;

Winkler, Susen ;

Pawlack, Heike ;

Hagenah, Johann ;

Brueggemann, Norbert ;

Zittel, Simone ;

Fuchs, Tania ;

Rakovic, Aleksandar ;

Schmidt, Alexander ;

Jabusch, Hans-Christian ;

Wilcox, Robert ;

Kostic, Vladimir S. ;

Siebner, Hartwig ;

Altenmueller, Eckart ;

Muenchau, Alexander ;

Ozelius, Laurie J. ;

Klein, Christine .

LANCET NEUROLOGY, 2009, 8 (05) :447-452

[3] Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia [J].

Fuchs, Tania ;

Gavarini, Sophie ;

Saunders-Pullman, Rachel ;

Raymond, Deborah ;

Ehrlich, Michelle E. ;

Bressman, Susan B. ;

Ozelius, Laurie J. .

NATURE GENETICS, 2009, 41 (03) :286-288

[4] DYT6 Dystonia: Mutation Screening, Phenotype, and Response to Deep Brain Stimulation [J].

Groen, Justus L. ;

Ritz, Katja ;

Contarino, Maria Fiorella ;

van de Warrenburg, Bart P. ;

Aramideh, Majid ;

Foncke, Elisabeth M. ;

van Hilten, Jacobus J. ;

Schuurman, P. Richard ;

Speelman, Johannes D. ;

Koelman, Johannes H. ;

de Bie, Rob M. A. ;

Baas, Frank ;

Tijssen, Marina A. .

MOVEMENT DISORDERS, 2010, 25 (14) :2420-2427

[5] THAP1 mutations (DYT6) are an additional cause of early-onset dystonia [J].

Houlden, H. ;

Schneider, S. A. ;

Paudel, R. ;

Melchers, A. ;

Schwingenschuh, P. ;

Edwards, M. ;

Hardy, J. ;

Bhatia, K. P. .

NEUROLOGY, 2010, 74 (10) :846-850

[6] Novel THAP1 sequence variants in primary dystonia [J].

Xiao, J. ;

Zhao, Y. ;

Bastian, R. W. ;

Perlmutter, J. S. ;

Racette, B. A. ;

Tabbal, S. D. ;

Karimi, M. ;

Paniello, R. C. ;

Wszolek, Z. K. ;

Uitti, R. J. ;

Van Gerpen, J. A. ;

Simon, D. K. ;

Tarsy, D. ;

Hedera, P. ;

Truong, D. D. ;

Frei, K. P. ;

Batish, S. Dev ;

Blitzer, A. ;

Pfeiffer, R. F. ;

Gong, S. ;

LeDoux, M. S. .

NEUROLOGY, 2010, 74 (03) :229-238

← 1 →