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.

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页码：175 / 183

页数：9

相关论文

共 71 条

[1] Myotonic dystrophy is associated with a reduced level of RNA from the DMWD allele adjacent to the expanded repeat [J].

Alwazzan, M ;

Newman, E ;

Hamshere, MG ;

Brook, JD .

HUMAN MOLECULAR GENETICS, 1999, 8 (08) :1491-1497

[2]

Anderson JH, 2002, ARCH ITAL BIOL, V140, P323

[3] The KLHL1-antisense transcript (KLHL1AS) is evolutionarily conserved [J].

Benzow, KA ;

Koob, MD .

MAMMALIAN GENOME, 2002, 13 (03) :134-141

[4] A NOVEL HOMEODOMAIN-ENCODING GENE IS ASSOCIATED WITH A LARGE CPG ISLAND INTERRUPTED BY THE MYOTONIC-DYSTROPHY UNSTABLE (CTG)(N) REPEAT [J].

BOUCHER, CA ;

KING, SK ;

CAREY, N ;

KRAHE, R ;

WINCHESTER, CL ;

RAHMAN, S ;

CREAVIN, T ;

MEGHJI, P ;

BAILEY, MES ;

CHARTIER, FL ;

BROWN, SD ;

SICILIANO, MJ ;

JOHNSON, KJ .

HUMAN MOLECULAR GENETICS, 1995, 4 (10) :1919-1925

[5] MOLECULAR-BASIS OF MYOTONIC-DYSTROPHY - EXPANSION OF A TRINUCLEOTIDE (CTG) REPEAT AT THE 3' END OF A TRANSCRIPT ENCODING A PROTEIN-KINASE FAMILY MEMBER [J].

BROOK, JD ;

MCCURRACH, ME ;

HARLEY, HG ;

BUCKLER, AJ ;

CHURCH, D ;

ABURATANI, H ;

HUNTER, K ;

STANTON, VP ;

THIRION, JP ;

HUDSON, T ;

SOHN, R ;

ZEMELMAN, B ;

SNELL, RG ;

RUNDLE, SA ;

CROW, S ;

DAVIES, J ;

SHELBOURNE, P ;

BUXTON, J ;

JONES, C ;

JUVONEN, V ;

JOHNSON, K ;

HARPER, PS ;

SHAW, DJ ;

HOUSMAN, DE .

CELL, 1992, 68 (04) :799-808

[6] Analysis of SCA8 and SCA12 loci in 134 Italian ataxic patients negative for SCA1-3, 6 and 7 CAG expansions [J].

Brusco, A ;

Cagnoli, C ;

Franco, A ;

Dragone, E ;

Nardacchione, A ;

Grosso, E ;

Mortara, P ;

Mutani, R ;

Migone, N ;

Orsi, L .

JOURNAL OF NEUROLOGY, 2002, 249 (07) :923-929

[7] Molecular and clinical correlations in spinocerebellar ataxia 2: A study of 32 families [J].

Cancel, G ;

Durr, A ;

Didierjean, O ;

Imbert, G ;

Burk, K ;

Lezin, A ;

Belal, S ;

Benomar, A ;

AbadaBendib, M ;

Vial, C ;

Guimaraes, J ;

Chneiweiss, H ;

Stevanin, G ;

Yvert, G ;

Abbas, N ;

Saudou, F ;

Lebre, AS ;

Yahyaoui, M ;

Hentati, F ;

Vernant, JC ;

Klockgether, T ;

Mandel, JL ;

Agid, Y ;

Brice, A .

HUMAN MOLECULAR GENETICS, 1997, 6 (05) :709-715

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

Cellini, E ;

Nacmias, B ;

Forleo, P ;

Piacentini, S ;

Guarnieri, BM ;

Serio, A ;

Calabrò, A ;

Renzi, D ;

Sorbi, S .

ARCHIVES OF NEUROLOGY, 2001, 58 (11) :1856-1859

[9] Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing [J].

Charlet-B, N ;

Savkur, RS ;

Singh, G ;

Philips, AV ;

Grice, EA ;

Cooper, TA .

MOLECULAR CELL, 2002, 10 (01) :45-53

[10] EVIDENCE FOR A MECHANISM PREDISPOSING TO INTERGENERATIONAL CAG REPEAT INSTABILITY IN SPINOCEREBELLAR ATAXIA TYPE-I [J].

CHUNG, MY ;

RANUM, LPW ;

DUVICK, LA ;

SERVADIO, A ;

ZOGHBI, HY ;

ORR, HT .

NATURE GENETICS, 1993, 5 (03) :254-258

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