PMID- 31506141
OWN - NLM
STAT- MEDLINE
DCOM- 20190917
LR  - 20200808
IS  - 1008-8830 (Print)
IS  - 1008-8830 (Linking)
VI  - 21
IP  - 9
DP  - 2019 Sep
TI  - [Clinical features of infantile neuroaxonal dystrophy and PLA2G6 gene testing].
PG  - 851-855
AB  - 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.
FAU - Lu, Yao
AU  - Lu Y
AD  - Department of Neonatology, Xianning Central Hospital/First Affiliated Hospital of 
      Hubei University of Science and Technology, Xianning, Hubei 437100, China. 
      cjwusyt@126.com.
FAU - Liu, Chun-Hua
AU  - Liu CH
FAU - Wang, Yang
AU  - Wang Y
LA  - chi
PT  - Journal Article
PL  - China
TA  - Zhongguo Dang Dai Er Ke Za Zhi
JT  - Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
JID - 100909956
RN  - EC 3.1.1.4 (Group VI Phospholipases A2)
RN  - EC 3.1.1.4 (PLA2G6 protein, human)
SB  - IM
MH  - Child, Preschool
MH  - Group VI Phospholipases A2/*genetics
MH  - Humans
MH  - Magnetic Resonance Imaging
MH  - Male
MH  - Mutation
MH  - *Neuroaxonal Dystrophies/genetics
MH  - *Neurodegenerative Diseases/genetics
PMC - PMC7390253
EDAT- 2019/09/12 06:00
MHDA- 2019/09/19 06:00
PMCR- 2019/09/25
CRDT- 2019/09/12 06:00
PHST- 2019/09/12 06:00 [entrez]
PHST- 2019/09/12 06:00 [pubmed]
PHST- 2019/09/19 06:00 [medline]
PHST- 2019/09/25 00:00 [pmc-release]
AID - 10.7499/j.issn.1008-8830.2019.09.002 [pii]
AID - zgddekzz-21-9-851 [pii]
AID - 10.7499/j.issn.1008-8830.2019.09.002 [doi]
PST - ppublish
SO  - Zhongguo Dang Dai Er Ke Za Zhi. 2019 Sep;21(9):851-855. doi: 
      10.7499/j.issn.1008-8830.2019.09.002.