Do CTG expansions at the SCA8 locus cause ataxia?

被引：33

作者：

Schöls, L

Bauer, I

Zühlke, C

Schulte, T

Kölmel, C

Bürk, K

Topka, H

Bauer, P

Przuntek, H

Riess, O

机构：

[1] Ruhr Univ Bochum, St Josef Hosp, Neurol Klin, D-44791 Bochum, Germany

[2] Univ Rostock, Dept Med Genet, Rostock, Germany

[3] Med Univ Lubeck, Inst Human Genet, D-23538 Lubeck, Germany

[4] Schlosspk Klin, Dept Psychiat, Berlin, Germany

[5] Univ Tubingen, Dept Neurol, D-7400 Tubingen, Germany

[6] Stadt Krankenhaus Munchen Bogenhausen, Dept Neurol, Munich, Germany

[7] Univ Tubingen, Dept Med Genet, Tubingen, Germany

来源：

ANNALS OF NEUROLOGY | 2003年 / 54卷 / 01期

关键词：

D O I：

10.1002/ana.10608

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

To evaluate the significance of expanded CTG repeats at the SCA8 locus, we analyzed the allele distribution in 1,262 German ataxia patients. We found intermediate and expanded CTG repeats with similar frequencies in ataxia patients with and without established genetic diseases. One family linked to the SCA8 locus showed incomplete penetrance and an association of smaller CTG repeats with more severe disease. Our data question the disease-causing character of CTG expansions for SCA8 and advise great caution in genetic testing.

引用

页码：110 / 115

页数：6

共 21 条

[1] Sporadic cerebellar ataxia associated with gluten sensitivity
Bürk, K
Bösch, S
Müller, CA
Melms, A
Zühlke, C
Stern, M
Besenthal, I
Skalej, M
Ruck, P
Ferber, S
Klockgether, T
Dichgans, J
[J]. BRAIN, 2001, 124 : 1013 - 1019
[2] Spinocerebellar ataxia type 8 - Clinical features in a large family
Day, JW
Schut, LJ
Moseley, ML
Durand, AC
Ranum, LPW
[J]. NEUROLOGY, 2000, 55 (05) : 649 - 657
[3] Differential stability of the (GAA)(n) tract in the Friedreich ataxia (STM7) gene
Epplen, C
Epplen, JT
Frank, G
Miterski, B
Santos, EJM
Schols, L
[J]. HUMAN GENETICS, 1997, 99 (06) : 834 - 836
[4] Juvonen V, 2000, ANN NEUROL, V48, P354, DOI 10.1002/1531-8249(200009)48:3<354::AID-ANA10>3.3.CO
[5] 2-1
[6] An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)
Koob, MD
Moseley, ML
Schut, LJ
Benzow, KA
Bird, TD
Day, JW
Ranum, LPW
[J]. NATURE GENETICS, 1999, 21 (04) : 379 - 384
[7] Psychopathology in patients with degenerative cerebellar diseases: A comparison to Huntington's disease
Leroi, I
O'Hearn, E
Marsh, L
Lyketsos, CG
Rosenblatt, A
Ross, CA
Brandt, J
Margolis, RL
[J]. AMERICAN JOURNAL OF PSYCHIATRY, 2002, 159 (08) : 1306 - 1314
[8] The spinocerebellar ataxias: order emerges from chaos.
Margolis R.L.
[J]. Current Neurology and Neuroscience Reports, 2002, 2 (5) : 447 - 456
[9] SCA8 CTG repeat:: en masse contractions in sperm and intergenerational sequence changes may play a role in reduced penetrance
Moseley, ML
Schut, MJ
Bird, TD
Koob, MD
Day, JW
Ranum, LPW
[J]. HUMAN MOLECULAR GENETICS, 2000, 9 (14) : 2125 - 2130
[10] The SCA8 transcript is an antisense RNA to a brain-specific transcript encoding a novel actin-binding protein (KLHL1)
Nemes, JP
Benzow, KA
Koob, MD
[J]. HUMAN MOLECULAR GENETICS, 2000, 9 (10) : 1543 - 1551

← 1 2 3 →