Clinically disparate stiff-person syndrome with GAD65 autoantibody in a father and daughter

被引：20

作者：

Burns, TM

Jones, HR

Phillips, LH

Bugawan, TL

Erlich, HA

Lennon, VA

机构：

[1] Univ Virginia, Dept Neurol, Charlottesville, VA 22908 USA

[2] Lahey Clin Fdn, Dept Neurol, Burlington, MA USA

[3] Dept Human Genet, Alameda, CA USA

[4] Mayo Clin, Mayo Grad Sch, Dept Immunol, Rochester, MN USA

[5] Mayo Clin, Mayo Grad Sch, Dept Neurol, Rochester, MN USA

[6] Mayo Clin, Mayo Grad Sch, Dept Lab Med, Rochester, MN USA

[7] Mayo Clin, Mayo Med Sch, Dept Lab Med, Rochester, MN USA

[8] Mayo Clin, Mayo Med Sch, Dept Neurol, Rochester, MN USA

[9] Mayo Clin, Mayo Med Sch, Dept Immunol, Rochester, MN USA

来源：

NEUROLOGY | 2003年 / 61卷 / 09期

关键词：

D O I：

10.1212/01.WNL.0000092016.98256.21

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Stiff- person syndrome ( SPS) is a sporadic autoimmune disorder characterized by muscle stiffness with painful spasms and usually a high level of GAD65 antibody. The authors report familial SPS associated with GAD65 antibody. The clinical presentations were disparate; the father had an appendicular form of SPS and the daughter's axial SPS presented with episodic opisthotonos.

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页码：1291 / 1293

页数：3

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