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Novel gene mutations and clinical features in patients with pantothenate kinase‐associated neurodegeneration
Author(s) -
Ma L.Y.,
Wang L.,
Yang Y.M.,
Lu Y.,
Cheng F.B.,
Wan X.H.
Publication year - 2015
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.12341
Subject(s) - neurodegeneration , gene , genetics , mutation , biology , bioinformatics , medicine , disease
Fig. 1. (a) Patients with compound heterozygous PANK2 gene mutations and their family members. The blackened squares denote the number of patients. (b) ‘Eye of the tiger sign’ of patients PKAN-02, 03 and 04 in T2-magnetic resonance imaging (MRI) image. We identified six Chinese patients with sporadic PKAN, all of whom revealed the typical ‘eye of the tiger’ sign upon brain magnetic resonance imaging (MRI). PANK2 mutational analyses were conducted in all patients and their available family members. Informed consents were obtained and blood samples were collected. The genotypes and clinical