J Clin Neurol.
2018 Oct;14(4):596-597. 10.3988/jcn.2018.14.4.596.
A Novel Heterozygous ANO3 Mutation with Basal Ganglia Dysfunction in a Patient with Adult-Onset Isolated Segmental Dystonia
- Affiliations
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- 1Department of Neurology, Yonsei University College of Medicine, Seoul, Korea.
- 2Department of Pediatrics, Yonsei University College of Medicine, Seoul, Korea.
- 3Hallym Institute of Translational Genomics and Bioinformatics, Hallym University Medical Center, Anyang, Korea.
- 4Department of Neurology, Hallym University Sacred Heart Hospital, Hallym University College of Medicine, Anyang, Korea.
- 5ILSONG Institute of Life Science, Hallym University, Anyang, Korea.
- 6Department of Neurology, Chung-Ang University College of Medicine, Seoul, Korea. shinhw@cau.ac.kr
- KMID: 2424196
- DOI: http://doi.org/10.3988/jcn.2018.14.4.596
Abstract
- No abstract available.
MeSH Terms
Figure
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Fig. 1 Family pedigree. A: Arrow indicates the proband. B: 18F-flaorodeoxyglucose PET analysis. arrow in the left panel indicates increased metabolism in the right striatum. Arrow in the right panel indicates decreased metabolism in the right subthalamus. C: Sanger sequencing confirmation of ANO3 mutation. D: Complete evolutionary conservation of arginine 287.
Reference
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1. Charlesworth G, Plagnol V, Holmström KM, Bras J, Sheerin UM, Preza E, et al. Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis. Am J Hum Genet. 2012; 91:1041–1050.
Article2. Lohmann K, Klein C. Update on the genetics of dystonia. Curr Neurol Neurosci Rep. 2017; 17:26.
Article3. Stamelou M, Charlesworth G, Cordivari C, Schneider SA, Kägi G, Sheerin UM, et al. The phenotypic spectrum of DYT24 due to ANO3 mutations. Mov Disord. 2014; 29:928–934.
Article4. Carbon M, Argyelan M, Eidelberg D. Functional imaging in hereditary dystonia. Eur J Neurol. 2010; 17:Suppl 1. 58–64.
Article5. Domingo A, Erro R, Lohmann K. Novel dystonia genes: clues on disease mechanisms and the complexities of high-throughput sequencing. Mov Disord. 2016; 31:471–477.
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