Clinical study and <i>PLA2G6</i> mutation screening analysis in Chinese patients with infantile neuroaxonal dystrophy

Wu, Yan; Jiang, Yuwu; Gao, Zhijie; Wang, J.; Yuan, Yun; Xiong, Hui; Chang, Xingzhi; Bao, Xinhua; Zhang, Yuehua; Xiao, Jiangxi; Wu, Xiru

doi:10.1111/j.1468-1331.2008.02397.x

Cited by 51 publications

(65 citation statements)

References 15 publications

(40 reference statements)

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“…To date different types of sequence variations have been documented, including non-sense and missense mutations, small exons deletions, splice-site, and copy number variations (Morgan et al, 2006; Wu et al, 2009a; Crompton et al, 2010). Even though no clear genotype/phenotype correlation exists, the early onset and more aggressive forms are associated with two null mutations, while the atypical presentation is more common in individuals carrying missense mutations.…”

Section: Nbia Caused By Defects In Genes Coding For Proteins Involvedmentioning

confidence: 99%

Neurodegeneration with brain iron accumulation: update on pathogenic mechanisms

2014

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Perturbation of iron distribution is observed in many neurodegenerative disorders, including Alzheimer's and Parkinson's disease, but the comprehension of the metal role in the development and progression of such disorders is still very limited.The combination of more powerful brain imaging techniques and faster genomic DNA sequencing procedures has allowed the description of a set of genetic disorders characterized by a constant and often early accumulation of iron in specific brain regions and the identification of the associated genes; these disorders are now collectively included in the category of neurodegeneration with brain iron accumulation (NBIA). So far 10 different genetic forms have been described but this number is likely to increase in short time. Two forms are linked to mutations in genes directly involved in iron metabolism: neuroferritinopathy, associated to mutations in the FTL gene and aceruloplasminemia, where the ceruloplasmin gene product is defective. In the other forms the connection with iron metabolism is not evident at all and the genetic data let infer the involvement of other pathways: Pank2, Pla2G6, C19orf12, COASY, and FA2H genes seem to be related to lipid metabolism and to mitochondria functioning, WDR45 and ATP13A2 genes are implicated in lysosomal and autophagosome activity, while the C2orf37 gene encodes a nucleolar protein of unknown function. There is much hope in the scientific community that the study of the NBIA forms may provide important insight as to the link between brain iron metabolism and neurodegenerative mechanisms and eventually pave the way for new therapeutic avenues also for the more common neurodegenerative disorders. In this work, we will review the most recent findings in the molecular mechanisms underlining the most common forms of NBIA and analyze their possible link with brain iron metabolism.

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Section: Nbia Caused By Defects In Genes Coding For Proteins Involvedmentioning

confidence: 99%

Neurodegeneration with brain iron accumulation: update on pathogenic mechanisms

2014

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“…This indicates that the absence of cerebellar cortex signal hyperintensity does not rule out an INAD diagnosis (13). (2,6,(12)(13)(14)(15)(16)(17). In China, only 2 studies reported PLA2G6-associated neurodegeneration.…”

Section: Discussionmentioning

confidence: 99%

“…In China, only 2 studies reported PLA2G6-associated neurodegeneration. The first study discussed 10 patients with INAD, who had been diagnosed through neuropathology, that were analyzed for PLA2G6 mutations (17). The second was a follow-up study of 25 Chinese children with PLA2G6-associated neurodegeneration that found 27 different mutations, of which 13 were novel (18).…”

Section: Discussionmentioning

confidence: 99%

Monozygotic twins with infantile neuroaxonal dystrophy: A case report and literature review

Zou

Bao

et al. 2016

Experimental and Therapeutic Medicine

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“…Sural nerve biopsy has a good yield but usually requires availability of electron microscopy for ultrastructural analysis. The yield from muscle biopsy appears to be low [1,4]. Spheroids are not specific to INAD and may occur in PKAN and in various ill-defined chronic non-progressive or progressive neurological disorders [5].…”

Section: Neuropathological Findingsmentioning

confidence: 99%

“…It was suggested that there was protein misfolding and aggregation causing age-dependent impairment of axonal membrane homeostasis and protein degradation pathways, leading to progressive neurological deterioration [8]. Arachidonic acid toxicity may also play a role by increasing apoptosis [4].…”

Section: Animal Modelsmentioning

confidence: 99%