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KMID : 1197720090020010045
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대한파킨슨병 및 이상운동질환 학회지
2009 Volume.2 No. 1 p.45 ~ p.47
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Novel Compound Heterozygous Mutations in the Pantothenate Kinase 2 Gene in a Korean Patient with Atypical Pantothenate Kinase Associated Neurodegeneration
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Kim Sung-Hyouk
Sung Young-Hee
Park Kee-Hyung
Lee Yeung-Bae
Park Hyeon-Mi
Shin Dong-Jin
Kim Gu-Hwan
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Abstract
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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.
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KEYWORD
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Pantothenate kinase 2, Pantothenate kinase-associated neurodegeneration, Dystonia
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