A patient with 41 CAG repeats in SCA17 presenting with parkinsonism and chorea

被引:13
作者
Park, Hyeyoung [1 ,2 ]
Jeon, Beom Seok [1 ,2 ]
Shin, Jung Hwan [1 ,2 ]
Park, Sung-Hye [3 ]
机构
[1] Seoul Natl Univ, Coll Med, Dept Neurol, Seoul, South Korea
[2] Seoul Natl Univ, Coll Med, Movement Disorder Ctr, Seoul, South Korea
[3] Seoul Natl Univ, Coll Med, Dept Pathol, Seoul 151, South Korea
关键词
Spinocerebellar ataxia type 17; Trinucleotide repeats; Parkinsonism; Chorea; Submandibular gland; TATA-BINDING PROTEIN; GENE; ONSET;
D O I
10.1016/j.parkreldis.2015.11.011
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:106 / 107
页数:2
相关论文
共 4 条
[1]   Psychiatric onset and late chorea in a patient with 41 CAG repeats in the TATA-binding protein gene [J].
Alibardi, Alessia ;
Squitieri, Ferdinando ;
Fattapposta, Francesco ;
Missori, Paolo ;
Pierelli, Francesco ;
Trompetto, Carlo ;
Curra, Antonio .
PARKINSONISM & RELATED DISORDERS, 2014, 20 (06) :678-679
[2]   Late Onset Ataxia: MSA-C or SCA 17? A Gene Penetrance Dilemma [J].
Doherty, Karen M. ;
Warner, Thomas T. ;
Lees, Andrew J. .
MOVEMENT DISORDERS, 2014, 29 (01) :36-38
[3]   Spinocerebellar ataxia type 17 mutation as a causative and susceptibility gene in parkinsonism [J].
Kim, J-Y. ;
Kim, S. Y. ;
Kim, J-M. ;
Kim, Y. K. ;
Yoon, K-Y. ;
Kim, J. Y. ;
Lee, B. C. ;
Kim, J. S. ;
Paek, S. H. ;
Park, S. S. ;
Kim, S. E. ;
Jeon, B. S. .
NEUROLOGY, 2009, 72 (16) :1385-1389
[4]   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