J Clin Neurol.  2016 Jan;12(1):126-128. 10.3988/jcn.2016.12.1.126.

Ataxia with Oculomotor Apraxia Type 1 without Oculomotor Apraxia: A Case Report

Affiliations
  • 1Department of Neurology, Kangdong Sacred Heart Hospital, Hallym University, Seoul, Korea.
  • 2Hallym Institute of Translational Genomics & Bioinformatics, Hallym University Medical Center, Anyang, Korea. yunkim@hallym.ac.kr
  • 3Department of Neurology, Hallym University Sacred Heart Hospital, Hallym University, Anyang, Korea.
  • 4ILSONG Institute of Life Science, Hallym University, Anyang, Korea.

Abstract

No abstract available.


MeSH Terms

Apraxias*
Ataxia*

Figure

  • Fig. 1 Brain MRI and Sanger sequencing of APTX exons. A and B: Coronal T2-weighted (A) and sagittal T1-weighted (B) magnetic resonance images of the proband. Note the presence of pure cerebellar atrophy without involvement of the pons, medulla oblongata, or cerebral cortex. C: Electropherogram showing mutations in exons 3 and 5 of APTX. Mutation spots of c.359_360delAC (p.Asp120Lysfs2) and c.617C>T (p.Pro206Leu, rs121908131) are marked by a red bar.


Reference

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