Clinical features of infantile neuroaxonal dystrophy and PLA2G6 gene testing.
- Author:
Yao LU
1
;
Chun-Hua LIU
;
Yang WANG
Author Information
1. Department of Neonatology, Xianning Central Hospital/First Affiliated Hospital of Hubei University of Science and Technology, Xianning, Hubei 437100, China. cjwusyt@126.com.
- Publication Type:Journal Article
- MeSH:
Child, Preschool;
Group VI Phospholipases A2;
genetics;
Humans;
Magnetic Resonance Imaging;
Male;
Mutation;
Neuroaxonal Dystrophies;
genetics;
Neurodegenerative Diseases;
genetics
- From:
Chinese Journal of Contemporary Pediatrics
2019;21(9):851-855
- CountryChina
- Language:Chinese
-
Abstract:
Infantile neuroaxonal dystrophy (INAD) is a rare neurodegenerative disease. Two boys aged 3 years and 4 years and 2 months respectively, were admitted to the hospital due to delayed mental and motor development. There were no abnormalities at birth, and both children had low muscle strength and tension on admission. One child was not able to stand alone and had impaired vision. Electromyography showed neurogenic damage, and head MRI revealed cerebellar atrophy. High-throughput sequencing revealed compound heterozygous mutations in the PLA2G6 gene in the two children. The mutations (IVS11-1G>T and c.1984C>G) in one child were new mutations, and immunohistochemistry showed a reduction in the protein expression of PLAG6 in the muscular tissue of this child. INAD has the main clinical manifestations of psychomotor developmental regression and cerebellar atrophy. High-throughput sequencing can help with clinical diagnosis.
