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
  • 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.

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.

Keyword

Spinocerebellar Ataxias; Retinal Degeneration; Cerebellar Ataxia

MeSH Terms

Brain/pathology
Humans
Korea
Magnetic Resonance Imaging
Male
Middle Aged
Retinal Degeneration/genetics/*pathology
Spinocerebellar Ataxias/genetics/*pathology
Trinucleotide Repeat Expansion
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