Journal List > J Korean Med Sci > v.17(4) > 1019464

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Kim, Kim, Cho, and Jeon: Spinocerebellar Ataxia Type 7 without Retinal Degeneration: A Case Rreport
Case Report
Journal of Korean Medical Science

Journal of Korean Medical Science 2002; 17(4): 577-579.

Published online: 23 April 2009

DOI: https://doi.org/10.3346/jkms.2002.17.4.577

Spinocerebellar Ataxia Type 7 without Retinal Degeneration: A Case Rreport

Byeong Chae Kim, Myeong Kyu Kim, Ki Hyun Cho, Beom S. Jeon

Department of Neurology, Chonnam National University Medical School, Gwangju, Korea.

Department of Neurology, Seoul National University, College of Medicine, Seoul, Korea.

kcho@chonnam.ac.kr

Copyright © 2002 The Korean Academy of Medical Sciences

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.

Keywords: Spinocerebellar Ataxias, Retinal Degeneration, Cerebellar Ataxia

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