Novel PANK2 gene mutations in two Chinese siblings with atypical pantothenate kinase-associated neurodegeneration

作者：Shan, Jingli; Wen, Bing; Zhu, Jun; Lin, Pengfei; Zheng, Jinfan; Yan, Chuanzhu^*

来源：Neurological Sciences, 2013, 34(4): 561-563.

DOI：10.1007/s10072-012-1177-8

• Pantothenate kinase-associated neurodegeneration
• PKAN
• Pantothenate kinase 2 gene
• The "eye of the tiger" sign

Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal-recessive disorder characterized by neurodegeneration and iron accumulation in the brain. Classic and atypical PKAN are distinguished on the basis of age at onset and disease progression. PANK2, localized on chromosome20p13, is confirmed as the responsible gene. We report two Chinese siblings with atypical PKAN, who had a 26- and 24-year disease course, respectively. Brain MRI scans of the two siblings showed the specific "eye of the tiger" sign. Genetic analysis identified novel compound heterozygous mutations (IVS1-2 A > T, c.T1130C) in PANK2 gene, which were confirmed to be deleterious. We verify the clinical heterogeneity even in siblings with identical genotype and expand the gene mutation pool for PKAN.

• 出版日期2013-4
• 单位山东大学