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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

Jing Yuan1, Canling Zhanga2, Shan Qiao1, Aihua Wang1, Shanchao Zhang1 
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

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.


How to cite this article:
Yuan J, Zhanga C, Qiao S, Wang A, Zhang S. Novel Compound Heterozygous Mutation in PANK2 in a Patient with an Atypical Form of Pantothenate Kinase Associated Neurodegeneration and His Family.Neurol India 2022;70:737-739


How to cite this URL:
Yuan J, Zhanga C, Qiao S, Wang A, Zhang S. Novel Compound Heterozygous Mutation in PANK2 in a Patient with an Atypical Form of Pantothenate Kinase Associated Neurodegeneration and His Family. Neurol India [serial online] 2022 [cited 2022 Aug 10 ];70:737-739
Available from: https://www.neurologyindia.com/article.asp?issn=0028-3886;year=2022;volume=70;issue=2;spage=737;epage=739;aulast=Yuan;type=0