Intergenerational instability in Huntington disease: Extreme repeat changes among 134 transmissions

被引：10

作者：

Ramos, Eliana Marisa ^{[1
]}

Cerqueira, Joana ^{[2
]}

Lemos, Carolina ^{[1
,3
]}

Pinto-Basto, Jorge ^{[1
,2
,3
]}

Alonso, Isabel ^{[1
,2
,3
]}

Sequeiros, Jorge ^{[1
,2
,3
]}

机构：

[1] Univ Porto, IBMC, UnIGENe Unit Genet & Epidemiol Res Neurol Dis, P-4150180 Oporto, Portugal

[2] Univ Porto, IBMC, CGPP, P-4150180 Oporto, Portugal

[3] Univ Porto, ICBAS, P-4150180 Oporto, Portugal

来源：

MOVEMENT DISORDERS | 2012年 / 27卷 / 04期

关键词：

LARGE TRINUCLEOTIDE REPEAT; GENE;

D O I：

10.1002/mds.24065

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：583 / 585

页数：3

共 7 条

[1] Repeat Instability in the 27-39 CAG Range of the HD Gene in the Venezuelan Kindreds: Counseling Implications [J].

Brocklebank, D. ;

Gayan, J. ;

Andresen, J. M. ;

Roberts, S. A. ;

Young, A. B. ;

Snodgrass, S. R. ;

Penney, J. B. ;

Ramos-Arroyo, M. A. ;

Cha, J. J. ;

Rosas, H. D. ;

Hersch, S. M. ;

Feigin, A. ;

Cherny, S. S. ;

Wexler, N. S. ;

Housman, D. E. ;

Cardon, L. R. .

AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, 2009, 150B (03) :425-429

[2] 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

[3] Juvenile onset Huntington disease resulting from a very large maternal expansion [J].

Nahhas, FA ;

Garbern, J ;

Krajewski, KM ;

Roa, BB ;

Feldman, GL .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2005, 137A (03) :328-331

[4] Analysis of a very large trinucleotide repeat in a patient with juvenile Huntington's disease [J].

Nance, MA ;

Mathias-Hagen, V ;

Breningstall, G ;

Wick, MJ ;

McGlennen, RC .

NEUROLOGY, 1999, 52 (02) :392-394

[5] Case of maternally transmitted juvenile Huntington's disease with a very large trinucleotide repeat [J].

Papapetropoulos, S ;

Lopez-Alberola, R ;

Baumbach, L ;

Russell, A ;

Gonzalez, MA ;

Bowen, BC ;

Singer, C .

MOVEMENT DISORDERS, 2005, 20 (10) :1380-1383

[6] Factors associated with HD CAG repeat instability in Huntington disease [J].

Wheeler, V. C. ;

Persichetti, F. ;

McNeil, S. M. ;

Mysore, J. S. ;

Mysore, S. S. ;

MacDonald, M. E. ;

Myers, R. H. ;

Gusella, J. F. ;

Wexler, N. S. .

JOURNAL OF MEDICAL GENETICS, 2007, 44 (11) :695-701

[7] MITOTIC STABILITY AND MEIOTIC VARIABILITY OF THE (CAG)(N) REPEAT IN THE HUNTINGTON DISEASE GENE [J].

ZUHLKE, C ;

RIESS, O ;

BOCKEL, B ;

LANGE, H ;

THIES, U .

HUMAN MOLECULAR GENETICS, 1993, 2 (12) :2063-2067

← 1 →