Clinical study and PLA2G6 mutation screening analysis in Chinese patients with infantile neuroaxonal dystrophy

European Journal of Neurology

Volumn 16, Issue 2, 2009, Pages 240-245

  Wu, Y ^a   Jiang, Y ^a   Gao, Z ^a   Wang, J ^a   Yuan, Y ^a   Xiong, H ^a   Chang, X ^a   Bao, X ^a   Zhang, Y ^a   Xiao, J ^a   Wu, X ^a  

^a PEKING UNIVERSITY   (China)

Author keywords

Chinese; Infantile neuroaxonal dystrophy; Mutation; PLA2G6

Indexed keywords

ARTICLE; CHINESE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENETIC SCREENING; HUMAN; HUMAN TISSUE; MALE; MISSENSE MUTATION; NERVE FIBER DEGENERATION; NEUROAXONAL DYSTROPHY; NEUROIMAGING; NEUROPATHOLOGY; NEUROPHYSIOLOGY; NONSENSE MUTATION; OUTCOME ASSESSMENT; PRIORITY JOURNAL; SKIN BIOPSY; SURAL NERVE;

ASIAN CONTINENTAL ANCESTRY GROUP; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; ELECTROMYOGRAPHY; FEMALE; GENETIC SCREENING; GROUP VI PHOSPHOLIPASES A2; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; NEUROAXONAL DYSTROPHIES; POLYMERASE CHAIN REACTION;

EID: 58349116105     PISSN: 13515101     EISSN: 14681331     Source Type: Journal    
DOI: 10.1111/j.1468-1331.2008.02397.x     Document Type: Article

References (16)

1. 2, is mutated in neurodegenerative disorders with high brain iron. Nature Genetics 2006 38 : 752 754.
2. Khateeb S, Flusser H, Ofir R, et al. PLA2G6 mutation underlies infantile nuroaxonal dystrophy. American Journal of Human Genetics 2006 79 : 942 948.
3. Wu Y, Shi Y, Yuan Y, et al. A case report of infantile neuroaxonal dystrophy. Chinese Journal of Pediatrics 2004 42 : 796.
4. Yuan Y, Zhang W, Wang ZX, et al. Pathological changes of dermal nerve and skeletal muscle in infantile neuroaxonal dystrophy. Chinese Journal of Neurology 2005 38 : 232 234.
5. Nardocci N, Zorzi G, Farina L, et al. Infantile neuroaxonal dystrophy: clinical spectrum and diagnostic criteria. Neurology 1999 52 : 1472 1478.
6. Gordon N. Infantile neuroaxonal dystrophy (Seitelberger's disease). Developmental Medicine and Child Neurology 2002 44 : 849 851.
7. Farina L, Nardocci N, Bruzzone MG, et al. Infantile neuroaxonal dystrophy: neuroradiological studies in 11 patients. Neuroradiology 1999 41 : 376 380.
8. Kurian MA, Morgan NV, MacPherson L, et al. Phenotypic spectrum of neurodegenerative association with mutations in PLA2G6 (PLAN). Neurology 2008 70 : 1623 1629.
9. Biancheri R, Rossi A, Alpigiani G, et al. Cerebellar atrophy without cerebellar cortex hyperintensity in infantile neuroaxonal dystrophy (INAD) due to PLA2G6 mutation. European Journal of Pediatric Neurology 2007 11 : 175 177.
10. Hayflick SJ. Neurodegeneration with brain iron accumulation: from genes to pathogenesis. Seminars in Pediatric Neurology 2006 13 : 182 185.
11. Gordon N. Pantothenate kinase-associated neurodegeneration (Hallervorden-Spatz syndrome). European Journal of Pediatric Neurology 2002 6 : 243 247.
12. 2 in activated cells. Cellular Signalling 2005 17 : 1052 1062.
13. 2. Biological and Pharmaceutical Bulletin 2004 27 : 1174 1178.
14. Malik I, Turk J, Mancuso DJ, et al. Disrupted membrane homeostsis and accumulation of ubiquitinated proteins in a mouse model of infantile neuroaxonal dystrophy caused by PLA2G6 mutations. American Journal of Pathology 2008 172 : 406 416.
15. 2 and apoptosis. Biochimica et Biophysica Acta 2006 1761 : 1344 1350.
16. Carrilho I, Santos M, Guimaraes A, et al. Infantile neuroaxonal dystrophy: what's most important for the diagnosis? European Journal of Pediatric Neurology 2008 12 : 491 500.