J Korean Med Sci. 2002 Aug;17(4):577-579. English.
Published online Apr 23, 2009.
https://doi.org/10.3346/jkms.2002.17.4.577
Published online Apr 23, 2009.
https://doi.org/10.3346/jkms.2002.17.4.577
Copyright © 2002 The Korean Academy of Medical Sciences
Case Report
Spinocerebellar Ataxia Type 7 without Retinal Degeneration: A Case Rreport
Byeong Chae Kim,
Myeong Kyu Kim,
Ki Hyun Cho
and Beom S. Jeon
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
MeSH Terms
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