Abstract |
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.
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Authors | Jingli Shan, Bing Wen, Jun Zhu, Pengfei Lin, Jinfan Zheng, Chuanzhu Yan |
Journal | Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
(Neurol Sci)
Vol. 34
Issue 4
Pg. 561-3
(Apr 2013)
ISSN: 1590-3478 [Electronic] Italy |
PMID | 22930366
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Phosphotransferases (Alcohol Group Acceptor)
- pantothenate kinase
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Topics |
- Adult
- Asian People
(genetics)
- Brain
(pathology)
- DNA Mutational Analysis
- Female
- Humans
- Magnetic Resonance Imaging
- Male
- Mutation
(genetics)
- Pantothenate Kinase-Associated Neurodegeneration
(genetics)
- Phosphotransferases (Alcohol Group Acceptor)
(genetics)
- Siblings
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