J Korean Med Sci.
2002 Aug;17(4):577-579. 10.3346/jkms.2002.17.4.577.
Spinocerebellar Ataxia Type 7 without Retinal Degeneration: A Case Rreport
- Affiliations
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- 1Department of Neurology, Chonnam National University Medical School, Gwangju, Korea. kcho@chonnam.ac.kr
- 2Department of Neurology, Seoul National University, College of Medicine, Seoul, Korea.
- KMID: 1109775
- DOI: http://doi.org/10.3346/jkms.2002.17.4.577
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.
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