Case of spinocerebellar ataxia type 17 (SCA17) associated with only 41 repeats of the TATA-binding protein (TBP) gene

被引：32

作者：

Nanda, Ashish ^{[1
]}

Jackson, Sarah A.

Schwankhaus, John D.

机构：

[1] Univ Arkansas Med Sci, Little Rock, AR 72205 USA

[2] Cent Arkansas Vet Healthcare Syst, Little Rock, AR USA

来源：

MOVEMENT DISORDERS | 2007年 / 22卷 / 03期

关键词：

D O I：

10.1002/mds.21275

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：436 / 436

页数：1

共 4 条

[1] Intergenerational instability and marked anticipation in SCA-17 [J].

Maltecca, F ;

Filla, A ;

Castaldo, I ;

Coppola, G ;

Fragassi, NA ;

Carella, M ;

Bruni, A ;

Cocozza, S ;

Casari, G ;

Servadio, A ;

De Michele, G .

NEUROLOGY, 2003, 61 (10) :1441-1443

[2] SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein [J].

Nakamura, K ;

Jeong, SY ;

Uchihara, T ;

Anno, M ;

Nagashima, K ;

Nagashima, T ;

Ikeda, S ;

Tsuji, S ;

Kanazawa, I .

HUMAN MOLECULAR GENETICS, 2001, 10 (14) :1441-1448

[3] Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17) [J].

Rolfs, A ;

Koeppen, AH ;

Bauer, I ;

Bauer, P ;

Buhlmann, S ;

Topka, H ;

Schöls, L ;

Riess, O .

ANNALS OF NEUROLOGY, 2003, 54 (03) :367-375

[4] Trinucleotide repeats in 202 families with ataxia -: A small expanded (CAG)n allele at the SCA17 locus [J].

Silveira, I ;

Miranda, C ;

Guimaraes, L ;

Moreira, MC ;

Alonso, I ;

Mendonça, P ;

Ferro, A ;

Pinto-Basto, J ;

Coelho, J ;

Ferreirinha, F ;

Poirier, J ;

Parreira, E ;

Vale, J ;

Januário, C ;

Barbot, C ;

Tuna, A ;

Barros, J ;

Koide, R ;

Tsuji, S ;

Holmes, SE ;

Margolis, RL ;

Jardim, L ;

Pandolfo, M ;

Coutinho, P ;

Sequeiros, J .

ARCHIVES OF NEUROLOGY, 2002, 59 (04) :623-629

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