Spinocerebellar Ataxia Type 7 without Retinal Degeneration: A Case Rreport.
10.3346/jkms.2002.17.4.577
- Author:
Byeong Chae KIM
1
;
Myeong Kyu KIM
;
Ki Hyun CHO
;
Beom S JEON
Author Information
1. Department of Neurology, Chonnam National University Medical School, Gwangju, Korea. kcho@chonnam.ac.kr
- Publication Type:Case Reports
- Keywords:
Spinocerebellar Ataxias;
Retinal Degeneration;
Cerebellar Ataxia
- MeSH:
Brain/pathology;
Humans;
Korea;
Magnetic Resonance Imaging;
Male;
Middle Aged;
Retinal Degeneration/genetics/*pathology;
Spinocerebellar Ataxias/genetics/*pathology;
Trinucleotide Repeat Expansion
- From:Journal of Korean Medical Science
2002;17(4):577-579
- CountryRepublic of Korea
- Language:English
-
Abstract:
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.
