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- Title
Clinical study and PLA2G6 mutation screening analysis in Chinese patients with infantile neuroaxonal dystrophy.
- Authors
Wu, Y; Jiang, Y; Gao, Z; Wang, J; Yuan, Y; Xiong, H; Chang, X; Bao, X; Zhang, Y; Xiao, J; Wu, X
- Abstract
Infantile neuroaxonal dystrophy (INAD) is a rare autosomal recessive neurodegenerative disorder. The most typical neuropathological finding of this disease is axonal swelling. Before the identification of associated mutations in PLA2G6-encoding iPLA(2)-VIA (cytosolic Ca(2+)-independent phospholipids A(2), group VIA) in 2006, neuropathological evidence was critical for definitive diagnosis. Only five genetic studies in INAD patients have been published worldwide, wherein 44 mutations were reported. To define the clinical and genetic characteristics of Chinese patients with INAD, 10 cases were analyzed.
- Publication
European journal of neurology, 2009, Vol 16, Issue 2, p240
- ISSN
1468-1331
- Publication type
Journal Article
- DOI
10.1111/j.1468-1331.2008.02397.x