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Gu-Hwan Kim 1 Article
Novel Compound Heterozygous Mutations in the Pantothenate Kinase 2 Gene in a Korean Patient with Atypical Pantothenate Kinase Associated Neurodegeneration
Sung-Hyouk Kim, Young-Hee Sung, Kee-Hyung Park, Yeung-Bae Lee, Hyeon-Mi Park, Dong Jin Shin, Gu-Hwan Kim
J Mov Disord. 2009;2(1):45-47.
DOI: https://doi.org/10.14802/jmd.09012
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AbstractAbstract PDF

Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder that is characterized by mutations in the pantothenate kinase 2 gene (PANK2) and typical magnetic resonance imaging findings. We report a case of atypical PKAN presenting with generalized dystonia. Our patient had compound heterozygous mutations in the PANK2 gene, including mutation in exon 3 (p.D268G) and exon 4 (p.R330P). To our knowledge, this patient is the first to have the p.R330P mutation and the second to have the p.D268G mutation.

Citations

Citations to this article as recorded by  
  • Atypical pantothenate kinase-associated neurodegeneration: Clinical description of two brothers and a review of the literature
    S. Mahoui, A. Benhaddadi, W. Ameur El Khedoud, M. Abada Bendib, M. Chaouch
    Revue Neurologique.2017; 173(10): 658.     CrossRef
  • Clinical Heterogeneity of Atypical Pantothenate Kinase-Associated Neurodegeneration in Koreans
    Jae-Hyeok Lee, Jongkyu Park, Ho-Sung Ryu, Hyeyoung Park, Young Eun Kim, Jin Yong Hong, Sang Ook Nam, Young-Hee Sung, Seung-Hwan Lee, Jee-Young Lee, Myung Jun Lee, Tae-Hyoung Kim, Chul Hyoung Lyoo, Sun Ju Chung, Seong Beom Koh, Phil Hyu Lee, Jin Whan Cho,
    Journal of Movement Disorders.2016; 9(1): 20.     CrossRef

JMD : Journal of Movement Disorders