Mutations in the PDYN gene (SCA23) are not a frequent cause of dominant ataxia in Central Europe

被引:8
作者
Schicks, J. [1 ,2 ]
Synofzik, M. [1 ,2 ]
Beetz, C. [3 ]
Schiele, F. [1 ,2 ]
Schoels, L. [1 ,2 ]
机构
[1] Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurodegenerat Dis, D-72076 Tubingen, Germany
[2] Univ Tubingen, German Ctr Neurodegenerat Dis DZNE, D-72076 Tubingen, Germany
[3] Univ Jena, Inst Clin Chem, Jena, Germany
关键词
D O I
10.1111/j.1399-0004.2011.01651.x
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:503 / 504
页数:2
相关论文
共 6 条
[1]  
Bakalkin G, 2010, AM J HUM GENET, V87, P593, DOI 10.1016/j.ajhg.2010.10.001
[2]   Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds [J].
Bauer, Peter ;
Stevanin, Giovanni ;
Beetz, Christian ;
Synofzik, Matthis ;
Schmitz-Huebsch, Tanja ;
Wuellner, Ullrich ;
Berthier, Eric ;
Ollagnon-Roman, Elisabeth ;
Riess, Olaf ;
Forlani, Sylvie ;
Mundwiller, Emeline ;
Durr, Alexandra ;
Schoels, Ludger ;
Brice, Alexis .
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2010, 81 (11) :1229-1232
[3]   Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28 [J].
Di Bella, Daniela ;
Lazzaro, Federico ;
Brusco, Alfredo ;
Plumari, Massimo ;
Battaglia, Giorgio ;
Pastore, Annalisa ;
Finardi, Adele ;
Cagnoli, Claudia ;
Tempia, Filippo ;
Frontali, Marina ;
Veneziano, Liana ;
Sacco, Tiziana ;
Boda, Enrica ;
Brussino, Alessandro ;
Bonn, Florian ;
Castellotti, Barbara ;
Baratta, Silvia ;
Mariotti, Caterina ;
Gellera, Cinzia ;
Fracasso, Valentina ;
Magri, Stefania ;
Langer, Thomas ;
Plevani, Paolo ;
Di Donato, Stefano ;
Muzi-Falconi, Marco ;
Taroni, Franco .
NATURE GENETICS, 2010, 42 (04) :313-U66
[4]   Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation [J].
Edener, Ulf ;
Woellner, Janine ;
Hehr, Ute ;
Kohl, Zacharias ;
Schilling, Stefan ;
Kreuz, Friedmar ;
Bauer, Peter ;
Bernard, Veronica ;
Gillessen-Kaesbach, Gabriele ;
Zuehlke, Christine .
EUROPEAN JOURNAL OF HUMAN GENETICS, 2010, 18 (08) :965-968
[5]   Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11 [J].
Houlden, Henry ;
Johnson, Janel ;
Gardner-Thorpe, Christopher ;
Lashley, Tammaryn ;
Hernandez, Dena ;
Worth, Paul ;
Singleton, Andrew B. ;
Hilton, David A. ;
Holton, Janice ;
Revesz, Tamas ;
Davis, Mary B. ;
Giunti, Paolo ;
Wood, Nicholas W. .
NATURE GENETICS, 2007, 39 (12) :1434-1436
[6]   Autosomal dominant cerebellar ataxias:: clinical features, genetics, and pathogenesis [J].
Schöls, L ;
Bauer, P ;
Schmidt, T ;
Schulte, T ;
Riess, O .
LANCET NEUROLOGY, 2004, 3 (05) :291-304