Paying the price at the pump:: Dystonia from mutations in a Na+/K+-ATPase

被引：15

作者：

Cannon, SC ^{[1
]}

机构：

[1] UT SW, Med Ctr, Dept Neurol, Dallas, TX 75390 USA

来源：

NEURON | 2004年 / 43卷 / 02期

关键词：

D O I：

10.1016/j.neuron.2004.07.002

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

Dystonia is a disorder of involuntary sustained muscle contraction, which usually affects a focal region of the body but may be generalized and results in twisting contorted movements or abnormal postures. Several clinical subtypes of dystonia have been delineated and many have a strong inherited basis. In this issue of Neuron, de Carvalho Aguiar and colleagues report the identification of missense mutations in the gene for the Na+/K+-ATPase alpha3 subunit (ATP1A3) as a cause of rapid-onset dystonia-parkinsonism (RDP, DYT12).

引用

收藏

页码：153 / 154

页数：2

相关论文

共 12 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] Parkinson's disease: Mechanisms and models [J].

Dauer, W ;

Przedborski, S .

NEURON, 2003, 39 (06) :889-909

[3] Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump α2 subunit associated with familial hemiplegic migraine type 2 [J].

De Fusco, M ;

Marconi, R ;

Silvestri, L ;

Atorino, L ;

Rampoldi, L ;

Morgante, L ;

Ballabio, A ;

Aridon, P ;

Casari, G .

NATURE GENETICS, 2003, 33 (02) :192-196

[4] RAPID-ONSET DYSTONIA-PARKINSONISM [J].

DOBYNS, WB ;

OZELIUS, LJ ;

KRAMER, PL ;

BRASHEAR, A ;

FARLOW, MR ;

PERRY, TR ;

WALSH, LE ;

KASARSKIS, EJ ;

BUTLER, IJ ;

BREAKEFIELD, XO .

NEUROLOGY, 1993, 43 (12) :2596-2602

[5] HEREDITARY PROGRESSIVE DYSTONIA WITH MARKED DIURNAL FLUCTUATION CAUSED BY MUTATIONS IN THE GTP CYCLOHYDROLASE-I GENE [J].

ICHINOSE, H ;

OHYE, T ;

TAKAHASHI, E ;

SEKI, N ;

HORI, T ;

SEGAWA, M ;

NOMURA, Y ;

ENDO, K ;

TANAKA, H ;

TSUJI, S ;

FUJITA, K ;

NAGATSU, T .

NATURE GENETICS, 1994, 8 (03) :236-242

[6]

Ikeda K, 2003, J NEUROSCI, V23, P4667

[7]

KARP B, 2002, DIS NERV SYST, P532

[8] Biology, structure and mechanism of P-type ATPases [J].

Kühlbrandt, W .

NATURE REVIEWS MOLECULAR CELL BIOLOGY, 2004, 5 (04) :282-295

[9] IMMUNOFLUORESCENT LOCALIZATION OF 3 NA,K-ATPASE ISOZYMES IN THE RAT CENTRAL-NERVOUS-SYSTEM - BOTH NEURONS AND GLIA CAN EXPRESS MORE THAN ONE NA,K-ATPASE [J].

MCGRAIL, KM ;

PHILLIPS, JM ;

SWEADNER, KJ .

JOURNAL OF NEUROSCIENCE, 1991, 11 (02) :381-391

[10] The genetics of primary dystonias and related disorders [J].

Németh, AH .

BRAIN, 2002, 125 :695-721