RAPID-ONSET DYSTONIA-PARKINSONISM IN A CHILD WITHA NOVEL ATP1A3 GENE MUTATION

被引：53

作者：

Anselm, I. A. ^{[1
]}

Sweadner, K. J. ^{[2
]}

Gollamudi, S. ^{[3
,4
]}

Ozelius, L. J. ^{[3
,4
]}

Darras, B. T. ^{[1
]}

机构：

[1] Childrens Hosp, Dept Neurol, Boston, MA 02115 USA

[2] Massachusetts Gen Hosp, Dept Surg, Boston, MA 02114 USA

[3] Mt Sinai Sch Med, Dept Genet & Genom Sci, New York, NY USA

[4] Mt Sinai Sch Med, Dept Neurol, New York, NY USA

来源：

NEUROLOGY | 2009年 / 73卷 / 05期

关键词：

PUMP;

D O I：

10.1212/WNL.0b013e3181b04acd

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

[No abstract available]

引用

页码：400 / 401

页数：2

共 7 条

[1] Mutations in the Na+/K+-ATPase α3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism [J].

Aguiar, PD ;

Sweadner, KJ ;

Penniston, JT ;

Zaremba, J ;

Liu, L ;

Caton, M ;

Linazasoro, G ;

Borg, M ;

Tijssen, MAJ ;

Bressman, SB ;

Dobyns, WB ;

Brashear, A ;

Ozelius, LJ .

NEURON, 2004, 43 (02) :169-175

[2] Alanine scanning mutagenesis of oxygen-containing amino acids in the transmembrane region of the Na,K-ATPase [J].

Argüello, JM ;

Whitis, J ;

Lingrel, JB .

ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS, 1999, 367 (02) :341-347

[3] Variable phenotype of rapid-onset dystonia-parkinsonism [J].

Brashear, A ;

Farlow, MR ;

Butler, IJ ;

Kasarskis, EJ ;

Dobyns, WB .

MOVEMENT DISORDERS, 1996, 11 (02) :151-156

[4] The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATPIA3 gene [J].

Brashear, Allison ;

Dobyns, William B. ;

Aguiar, Patricia de Carvalho ;

Borg, Michel ;

Frijns, C. J. M. ;

Gollamudi, Seema ;

Green, Andrew ;

Guimaraes, Joao ;

Haake, Bret C. ;

Klein, Christine ;

Linazasoro, Gurutz ;

Muenchau, Alexander ;

Raymond, Deborah ;

Riley, David ;

Saunders-Pullman, Rachel ;

Tijssen, Marina A. J. ;

Webb, David ;

Zaremba, Jacek ;

Bressman, Susan B. ;

Ozelius, Laurie J. .

BRAIN, 2007, 130 :828-835

[5] Crystal structure of the sodium-potassium pump [J].

Morth, J. Preben ;

Pedersen, Bjorn P. ;

Toustrup-Jensen, Mads S. ;

Sorensen, Thomas L. -M. ;

Petersen, Janne ;

Andersen, Jens Peter ;

Vilsen, Bente ;

Nissen, Poul .

NATURE, 2007, 450 (7172) :1043-U6

[6] Rapid-onset dystonia-parkinsonism - A clinical and genetic analysis of a new kindred [J].

Pittock, SJ ;

Joyce, C ;

O'Keane, V ;

Hugle, B ;

Hardiman, O ;

Brett, F ;

Green, AJ ;

Barton, DE ;

King, MD ;

Webb, DW .

NEUROLOGY, 2000, 55 (07) :991-995

[7] Amino acid substitutions in the rat Na+,K+-ATPase alpha 2-subunit alter the cation regulation of pump current expressed in HeLa cells [J].

Yamamoto, S ;

Kuntzweiler, TA ;

Wallick, ET ;

Sperelakis, N ;

Yatani, A .

JOURNAL OF PHYSIOLOGY-LONDON, 1996, 495 (03) :733-742

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