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Novel PLA2G6 mutations and clinical heterogeneity in Chinese cases with phospholipase A2-associated neurodegeneration

  • Published:2018-04 Issue: Volume:49 Page:88-94
  • ISSN:1353-8020
  • Container-title:Parkinsonism & Related Disorders
  • language:en
  • Short-container-title:Parkinsonism & Related Disorders

Author:

Chen Yi-Jun,Chen Yu-Chao,Dong Hai-Lin,Li Li-Xi,Ni Wang,Li Hong-Fu,Wu Zhi-Ying

Funder

National Natural Science Foundation of China

Research Foundation for Distinguished Scholar of Zhejiang University

Publisher

Elsevier BV

Subject

Neurology (clinical),Geriatrics and Gerontology,Neurology

Reference21 articles.

1. Neurodegenerations with brain iron accumulation;Schneider;Park. Relat. Disord.,2016

2. PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron;Morgan;Nat. Genet.,2006

3. A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging;Salomao;Arq. Neuropsiquiatr.,2016

4. Identification of novel compound mutations in PLA2G6-associated neurodegeneration patient with characteristic MRI imaging;Guo;Mol. Neurobiol.,2017

5. A novel homozygous mutation in PLA2G6 gene causes infantile neuroaxonal dystrophy in a case;Wang;Zhonghua Yi Xue Yi Chuan Xue Za Zhi,2016

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