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- W2374595483 abstract "Objective To study the clinical, magnetic resonance image(MRI) features and pantothenate kinase 2(PANK2) gene mutation of Chinese patients with Hallervorden-Spatz syndrome (HSS). Methods Five patients with a diagnosis of HSS were assessed according to their clinical and brain MRI features. PANK2 gene mutations were detected using polymerase chain reaction(PCR) , DNA sequence analysis, PCR- single strand conformation polymorphism and restriction enzyme digestion in 5 patients, 3 unaffected family members and 51 unrelated healthy persons.Results The main symptoms of 5 patients with HSS were extrapyramidal syndromes.T 2-weighted MRI scans showed a marked low signal intensity localized to bilateral globus pallidus and substantia nigra, and in one patient, presenting bilateral hyperintense signal within a hypointense region in the medial globus pallidus ,the “eye-of-the-tiger” sign. Novel compound heterozygous PANK2 gene mutations, A803G and T1172A, were found in one patient, leading to substitution of an aspartic for glycine codon at amino acid 268 (D268G) and an isoleucine for asparagine codon at amino acid 391 (I391N), respectively.Conclusions HSS can be diagnosed on the basis of clinical and brain MRI. PANK2 gene mutations might cause Hallervorden-Spatz syndrome in Chinese patients.And in patients with PANK2 gene mutation,T 2-weighted MRI of brain might show the “eye-of-the-tiger” sign." @default.
- W2374595483 created "2016-06-24" @default.
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- W2374595483 date "2005-01-01" @default.
- W2374595483 modified "2023-09-25" @default.
- W2374595483 title "Clinical, magnetic resonance image features and detection of pantothenate kinase 2 gene mutations in Chinese patients with Hallervorden-Spatz syndrome" @default.
- W2374595483 hasPublicationYear "2005" @default.
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