Coexistence of autosomal recessive spastic ataxia of Charlevoix Saguenay and spondyloepiphyseal dysplasia in a Turkish patient

被引：4

作者：

Kurt, Semiha ^{[1
]}

Kartal, Ece ^{[2
]}

Aksoy, Durdane ^{[1
]}

Cevik, Betul ^{[1
]}

Eken, Asli Gundogdu ^{[2
]}

Sahbaz, Irmak ^{[2
]}

Basak, A. Nazli ^{[2
]}

机构：

[1] Gaziosmanpasa Univ, Fac Med, Dept Neurol, Tokat, Turkey

[2] Bogazici Univ, Mol Biol & Genet Dept, Suna & Inan Kirac Fdn Neurodegenerat Res Lab, Istanbul, Turkey

来源：

JOURNAL OF THE NEUROLOGICAL SCIENCES | 2015年 / 357卷 / 1-2期

关键词：

Autosomal recessive spastic ataxia of Charlevoix Saguenay; ARSACS; Ataxia; Spasticity; Novel mutation; Spondyloepiphyseal dysplasia; SED;

D O I：

10.1016/j.jns.2015.06.050

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：290 / 291

页数：2

共 4 条

[1]

Anderson I. J., 1990, AM J MED GENET, V37, P272

[2] Autosomal recessive spastic ataxia of Charlevoix-Saguenay: An overview [J].

Bouhlal, Yosr ;

Amouri, Rim ;

El Euch-Fayeche, Ghada ;

Hentati, Faycal .

PARKINSONISM & RELATED DISORDERS, 2011, 17 (06) :418-422

[3] Clinical Presentation and Early Evolution of Spastic Ataxia of Charlevoix-Saguenay [J].

Duquette, Antoine ;

Brais, Bernard ;

Bouchard, Jean-Pierre ;

Mathieu, Jean .

MOVEMENT DISORDERS, 2013, 28 (14) :2011-2014

[4] A Recessive Skeletal Dysplasia, SEMD Aggrecan Type, Results from a Missense Mutation Affecting the C-Type Lectin Domain of Aggrecan [J].

Tompson, Stuart W. ;

Merriman, Barry ;

Funari, Vincent A. ;

Fresquet, Maryline ;

Lachman, Ralph S. ;

Rimoin, David L. ;

Nelson, Stanley F. ;

Briggs, Michael D. ;

Cohn, Daniel H. ;

Krakow, Deborah .

AMERICAN JOURNAL OF HUMAN GENETICS, 2009, 84 (01) :72-79

← 1 →