Large de novo expansion of CAG repeats in patient with sporadic spinocerebellar ataxia type 7

被引:9
作者
Bauer, P
Kraus, J
Matoska, V
Brouckova, M
Zumrova, A
Goetz, P
机构
[1] RIKEN, Brain Sci Inst, Lab Struct Neuropathol, Wako, Saitama 3510198, Japan
[2] Charles Univ Prague, Dept Child Neurol, Inst Biol & Med Genet, Neurogenet Ctr, Prague 15006, Czech Republic
[3] Charles Univ Prague, Fac Med 2, Dept Neurol, Prague 15006, Czech Republic
[4] Fac Hosp Motol, Prague 15006, Czech Republic
关键词
D O I
10.1007/s00415-004-0482-4
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
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页码:1023 / 1024
页数:2
相关论文
共 8 条
[1]   THE GENE FOR AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA WITH PIGMENTARY MACULAR DYSTROPHY MAPS TO CHROMOSOME 3P12-P21.1 [J].
BENOMAR, A ;
KROLS, L ;
STEVANIN, G ;
CANCEL, G ;
LEGUERN, E ;
DAVID, G ;
OUHABI, H ;
MARTIN, JJ ;
DURR, A ;
ZAIM, A ;
RAVISE, N ;
BUSQUE, C ;
PENET, C ;
VANREGEMORTER, N ;
WEISSENBACH, J ;
YAHYAOUI, M ;
CHKILI, T ;
AGID, Y ;
Van Broeckhoven, C ;
BRICE, A .
NATURE GENETICS, 1995, 10 (01) :84-88
[2]   Molecular and clinical studies in SCA-7 define a broad clinical spectrum and the infantile phenotype [J].
Benton, CS ;
de Silva, R ;
Rutledge, SL ;
Bohlega, S ;
Ashizawa, T ;
Zoghbi, HY .
NEUROLOGY, 1998, 51 (04) :1081-1086
[3]   Cis-acting modifiers of expanded CAG CTG triplet repeat expandability:: associations with flanking GC content and proximity to CpG islands [J].
Brock, GJR ;
Anderson, NH ;
Monckton, DG .
HUMAN MOLECULAR GENETICS, 1999, 8 (06) :1061-1067
[4]   Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7) [J].
David, G ;
Dürr, A ;
Stevanin, G ;
Cancel, G ;
Abbas, N ;
Benomar, A ;
Belal, S ;
Lebre, AS ;
Abada-Bendib, M ;
Grid, D ;
Holmberg, M ;
Yahyaoui, M ;
Hentati, F ;
Chkili, T ;
Agid, Y ;
Brice, A .
HUMAN MOLECULAR GENETICS, 1998, 7 (02) :165-170
[5]   Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion [J].
David, G ;
Abbas, N ;
Stevanin, G ;
Durr, A ;
Yvert, G ;
Cancel, G ;
Weber, C ;
Imbert, G ;
Saudou, F ;
Antoniou, E ;
Drabkin, H ;
Gemmill, R ;
Giunti, P ;
Benomar, A ;
Wood, N ;
Ruberg, M ;
Agid, Y ;
Mandel, JL ;
Brice, A .
NATURE GENETICS, 1997, 17 (01) :65-70
[6]   Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission [J].
Gouw, LG ;
Castañeda, MA ;
McKenna, CK ;
Digre, KB ;
Pulst, SM ;
Perlman, S ;
Lee, MS ;
Gomez, C ;
Fischbeck, K ;
Gagnon, D ;
Storey, E ;
Bird, T ;
Jeri, FR ;
Ptácek, LJ .
HUMAN MOLECULAR GENETICS, 1998, 7 (03) :525-532
[7]   Clinical and molecular advances in autosomal dominant cerebellar ataxias:: from genotype to phenotype and physiopathology [J].
Stevanin, G ;
Dürr, A ;
Brice, A .
EUROPEAN JOURNAL OF HUMAN GENETICS, 2000, 8 (01) :4-18
[8]   De novo expansion of intermediate alleles in spinocerebellar ataxia 7 [J].
Stevanin, G ;
Giunti, P ;
David, G ;
Belal, S ;
Dürr, A ;
Ruberg, M ;
Wood, N ;
Brice, A .
HUMAN MOLECULAR GENETICS, 1998, 7 (11) :1809-1813