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 BRIEF REPORT
Year : 2022  |  Volume : 70  |  Issue : 2  |  Page : 737--739

Novel Compound Heterozygous Mutation in PANK2 in a Patient with an Atypical Form of Pantothenate Kinase Associated Neurodegeneration and His Family


1 Department of Neurology, The First Affiliated Hospital of Shandong First Medical University & Shandong Provincial Qianfoshan Hospital, Jinan, China
2 Nursing Department, The First Affiliated Hospital of Shandong First Medical University & Shandong Provincial Qianfoshan Hospital, Jinan, China

Correspondence Address:
Dr. Shanchao Zhang
Department of Neurology, The First Affiliated Hospital of Shandong First Medical University & Shandong Provincial Qianfoshan Hospital, Jinan
China
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0028-3886.344682

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Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal-recessive disease characterized by iron accumulation in the brain due to PANK2 gene mutation. The typical “eye-of-the-tiger” sign is the characteristic manifestation of brain magnetic resonance imaging (MRI). We report a Chinese patient with atypical PKAN whose brain MRI scans displayed the typical “eye-of-the-tiger” sign in bilateral pallidum. Genetic analysis identified a compound heterozygous mutation (c. 629-2A > T, c. 1130T > C) for the PANK2 gene. These two mutations were further demonstrated in his parents and other relatives.






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