Spinocerebellar ataxia type 7 without retinal degeneration : A case report

被引：5
作者：
Kim, BC
Kim, MK
Cho, KH
Jeon, BS
机构：
[1] Chonnam Natl Univ, Sch Med, Dept Neurol, Dong Gu, Gwangju 501190, South Korea
[2] Seoul Natl Univ, Coll Med, Seoul, South Korea
来源：
JOURNAL OF KOREAN MEDICAL SCIENCE | 2002年 / 17卷 / 04期
关键词：
spinocerebellar ataxias; retinal degeneration; cerebellar ataxia;
D O I：
10.3346/jkms.2002.17.4.577
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
A 60-yr-old man developed progressive gait disturbance and limb ataxia at the age of 52. Family history was absent for neurological disorders. Examinations showed pure cerebellar syndrome. There was no retinal degeneration for 7 yr. A brain MRI done at the age of 56 showed atrophy of the cerebellar hemispheres and vermis. Genetic test confirmed the spinocerebellar ataxia type 7 with CAG repeat number of 42.
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收藏
页码：577 / 579
页数：3
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