Molecular genetics of spinocerebellar ataxia type 8 (SCA8)

被引：21

作者：

Mosemiller, AK

Dalton, JC

Day, JW

Ranum, LPW

机构：

[1] Univ Minnesota, Dept Genet, Minneapolis, MN 55455 USA

[2] Univ Minnesota, Dept Cell Biol, Minneapolis, MN 55455 USA

[3] Univ Minnesota, Dept Dev, Minneapolis, MN 55455 USA

[4] Univ Minnesota, Dept Neurol, Minneapolis, MN 55455 USA

[5] Univ Minnesota, Inst Human Genet, Minneapolis, MN 55455 USA

来源：

CYTOGENETIC AND GENOME RESEARCH | 2003年 / 100卷 / 1-4期

关键词：

D O I：

10.1159/000072852

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

We previously reported that a transcribed but untranslated CTG expansion causes a novel form of ataxia, spinocerebellar ataxia type 8 (SCA8) (Koob et al., 1999). SCA8 was the first example of a dominant spinocerebellar ataxia that is not caused by the expansion of a CAG repeat translated into a polyglutamine tract. This slowly progressive form of ataxia is characterized by dramatic repeat instability and a high degree of reduced penetrance. The clinical and genetic features of the disease are discussed below. Copyright (C) 2002 S.Karger AG, Basel.

引用

收藏

页码：175 / 183

页数：9

相关论文

共 71 条

[61] Are (CTG)n expansions at the SCA8 locus rare polymorphisms? [J].

Stevanin, G ;

Herman, A ;

Dürr, A ;

Jodice, C ;

Frontali, M ;

Agid, Y ;

Brice, A .

NATURE GENETICS, 2000, 24 (03) :213-213

[62] FOCI OF TRINUCLEOTIDE REPEAT TRANSCRIPTS IN NUCLEI OF MYOTONIC-DYSTROPHY CELLS AND TISSUES [J].

TANEJA, KL ;

MCCURRACH, M ;

SCHALLING, M ;

HOUSMAN, D ;

SINGER, RH .

JOURNAL OF CELL BIOLOGY, 1995, 128 (06) :995-1002

[63] Biomedicine - Deconstructing myotonic dystrophy [J].

Tapscott, SJ .

SCIENCE, 2000, 289 (5485) :1701-1702

[64] Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene [J].

Thornton, CA ;

Wymer, JP ;

Simmons, Z ;

McClain, C ;

Moxley, RT .

NATURE GENETICS, 1997, 16 (04) :407-409

[65] Identification of a (CUG)(n) triplet repeat RNA-binding protein and its expression in myotonic dystrophy [J].

Timchenko, LT ;

Miller, JW ;

Timchenko, NA ;

DeVore, DR ;

Datar, KV ;

Lin, LJ ;

Roberts, R ;

Caskey, CT ;

Swanson, MS .

NUCLEIC ACIDS RESEARCH, 1996, 24 (22) :4407-4414

[66] Genetic and clinical analysis of spinocerebellar ataxia type 8 repeat expansion in Yugoslavia [J].

Topisirovic, I ;

Dragasevic, N ;

Savic, D ;

Ristic, A ;

Keckarevic, M ;

Keckarevic, D ;

Culjkovic, B ;

Petrovic, I ;

Romac, S ;

Kostic, VS .

CLINICAL GENETICS, 2002, 62 (04) :321-324

[67] CORRELATION BETWEEN CTG TRINUCLEOTIDE REPEAT LENGTH AND FREQUENCY OF SEVERE CONGENITAL MYOTONIC-DYSTROPHY [J].

TSILFIDIS, C ;

MACKENZIE, AE ;

METTLER, G ;

BARCELO, J ;

KORNELUK, RG .

NATURE GENETICS, 1992, 1 (03) :192-195

[68]

Vincent JB, 2000, AM J MED GENET, V96, P873, DOI 10.1002/1096-8628(20001204)96:6<873::AID-AJMG37>3.0.CO

[69]

2-9

[70] Large, expanded repeats in SCA8 are not confined to patients with cerebellar ataxia [J].

Worth, PF ;

Houlden, H ;

Giunti, P ;

Davis, MB ;

Wood, NW .

NATURE GENETICS, 2000, 24 (03) :214-215

← 1 2 3 4 5 6 7 8 →