Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington's disease-like phenotype

被引:69
作者
Bauer, P
Laccone, F
Rolfs, A
Wüllner, U
Bösch, S
Peters, H
Liebscher, S
Scheible, M
Epplen, JT
Weber, BHF
Holinski-Feder, E
Weirich-Schwaiger, H
Morris-Rosendahl, DJ
Andrich, J
Riess, O
机构
[1] Univ Tubingen, Dept Med Genet, D-72076 Tubingen, Germany
[2] Univ Gottingen, Dept Human Genet, D-3400 Gottingen, Germany
[3] Univ Rostock, Dept Neurol, D-2500 Rostock 1, Germany
[4] Univ Bonn, Dept Neurol, D-5300 Bonn, Germany
[5] Univ Innsbruck, Dept Neurol, A-6020 Innsbruck, Austria
[6] Humboldt Univ, Charite, Dept Med Genet, D-1086 Berlin, Germany
[7] Ruhr Univ Bochum, Dept Human Genet, Bochum, Germany
[8] Univ Wurzburg, Inst Human Genet, D-97070 Wurzburg, Germany
[9] Med Genet Zentrum, Munich, Germany
[10] Univ Innsbruck, Inst Med Biol & Human Genet, A-6020 Innsbruck, Austria
[11] Univ Freiburg, Inst Human Genet & Anthropol, D-7800 Freiburg, Germany
[12] Ruhr Univ Bochum, Dept Neurol, Bochum, Germany
关键词
D O I
10.1136/jmg.2003.015602
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
[No abstract available]
引用
收藏
页码:230 / 232
页数:3
相关论文
共 17 条
[1]   Trinucleotide repeat expansions in the junctophilin-3 gene are not found in Caucasian patients with a Huntington's disease-like phenotype [J].
Bauer, I ;
Gencik, M ;
Laccone, F ;
Peters, H ;
Weber, BHF ;
Feder, EH ;
Weirich, H ;
Morris-Rosendahl, DJ ;
Rolfs, A ;
Gencikova, A ;
Bauer, P ;
Wenning, GK ;
Epplen, JT ;
Holmes, SE ;
Margolis, RL ;
Ross, CA ;
Riess, O .
ANNALS OF NEUROLOGY, 2002, 51 (05) :662-662
[2]   Mutations in TITF-1 are associated with benign hereditary chorea [J].
Breedveld, GJ ;
van Dongen, JWF ;
Danesino, C ;
Guala, A ;
Percy, AK ;
Dure, LS ;
Harper, P ;
Lazarou, LP ;
van der Linde, H ;
Joosse, M ;
Grüters, A ;
MacDonald, ME ;
de Vries, BBA ;
Arts, WFM ;
Oostra, BA ;
Krude, H ;
Heutink, P .
HUMAN MOLECULAR GENETICS, 2002, 11 (08) :971-979
[3]   A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2 [J].
Holmes, SE ;
O'Hearn, E ;
Rosenblatt, A ;
Callahan, C ;
Hwang, HS ;
Ingersoll-Ashworth, RG ;
Fleisher, A ;
Stevanin, G ;
Brice, A ;
Potter, NT ;
Ross, CA ;
Margolis, RL .
NATURE GENETICS, 2001, 29 (04) :377-378
[4]   Localization of the gene for a novel autosomal recessive neurodegenerative Huntington-like disorder to 4p15.3 [J].
Kambouris, M ;
Bohlega, S ;
Al-Tahan, A ;
Meyer, BF .
AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 66 (02) :445-452
[5]   DNA analysis of Huntington's disease -: Five years of experience in Germany, Austria, and Switzerland [J].
Laccone, F ;
Engel, U ;
Holinski-Feder, E ;
Weigell-Weber, M ;
Marczinek, K ;
Nolte, D ;
Morris-Rosendahl, DJ ;
Zühlke, C ;
Fuchs, K ;
Weirich-Schwaiger, H ;
Schlüter, G ;
von Beust, G ;
Vieira-Saecker, AMM ;
Weber, BHF ;
Riess, O .
NEUROLOGY, 1999, 53 (04) :801-806
[6]   Prominent psychiatric features and early onset in an inherited prion disease with a new insertional mutation in the prion protein gene [J].
Laplanche, JL ;
El Hachimi, KH ;
Durieux, I ;
Thuillet, P ;
Defebvre, L ;
Delasnerie-Lauprêtre, N ;
Peoc'h, K ;
Foncin, JF ;
Destée, A .
BRAIN, 1999, 122 :2375-2386
[7]   Interpretation of linkage data for a Huntington-like disorder mapping to 4p15.3 [J].
Lesperance, MM ;
Burmeister, M .
AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (01) :262-263
[8]   A NOVEL GENE CONTAINING A TRINUCLEOTIDE REPEAT THAT IS EXPANDED AND UNSTABLE ON HUNTINGTONS-DISEASE CHROMOSOMES [J].
MACDONALD, ME ;
AMBROSE, CM ;
DUYAO, MP ;
MYERS, RH ;
LIN, C ;
SRINIDHI, L ;
BARNES, G ;
TAYLOR, SA ;
JAMES, M ;
GROOT, N ;
MACFARLANE, H ;
JENKINS, B ;
ANDERSON, MA ;
WEXLER, NS ;
GUSELLA, JF ;
BATES, GP ;
BAXENDALE, S ;
HUMMERICH, H ;
KIRBY, S ;
NORTH, M ;
YOUNGMAN, S ;
MOTT, R ;
ZEHETNER, G ;
SEDLACEK, Z ;
POUSTKA, A ;
FRISCHAUF, AM ;
LEHRACH, H ;
BUCKLER, AJ ;
CHURCH, D ;
DOUCETTESTAMM, L ;
ODONOVAN, MC ;
RIBARAMIREZ, L ;
SHAH, M ;
STANTON, VP ;
STROBEL, SA ;
DRATHS, KM ;
WALES, JL ;
DERVAN, P ;
HOUSMAN, DE ;
ALTHERR, M ;
SHIANG, R ;
THOMPSON, L ;
FIELDER, T ;
WASMUTH, JJ ;
TAGLE, D ;
VALDES, J ;
ELMER, L ;
ALLARD, M ;
CASTILLA, L ;
SWAROOP, M .
CELL, 1993, 72 (06) :971-983
[9]   A disorder similar to Huntington's disease is associated with a novel CAG repeat expansion [J].
Margolis, RL ;
O'Hearn, E ;
Rosenblatt, A ;
Willour, V ;
Holmes, SE ;
Franz, ML ;
Callahan, C ;
Hwang, HS ;
Troncoso, JC ;
Ross, CA .
ANNALS OF NEUROLOGY, 2001, 50 (03) :373-380
[10]   Huntington disease phenocopy is a familial prion disease [J].
Moore, RC ;
Xiang, FQ ;
Monaghan, J ;
Han, D ;
Zhang, ZP ;
Edström, L ;
Anvret, M ;
Prusiner, SB .
AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (06) :1385-1388