PMID- 36204426
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20221009
IS  - 1735-4668 (Print)
IS  - 2008-0700 (Electronic)
IS  - 1735-4668 (Linking)
VI  - 16
IP  - 3
DP  - 2022 Summer
TI  - Infantile Neuroaxonal Dystrophy in Two Cases: Siblings with Different 
      Presentations.
PG  - 193-198
LID - 10.22037/ijcn.v16i2.30864 [doi]
AB  - Infantile neuroaxonal dystrophy (INAD) is a rare recessive neurodegenerative 
      disorder manifested by symptoms like hypotonia, extrapyramidal signs, spastic 
      tetraplegia, vision problems, cerebellar ataxia, cognitive complications, and 
      dementia before the age of three. Various reports evaluated the relationship 
      between the incidence of INAD and different mutations in the PLA2G6 gene. We 
      described cases of two children with INAD whose diagnoses were challenging due to 
      misleading findings and a mutation in the C.2370 T>G (p. Y790X) in the PLA2G6 
      gene based on NM_001349864, which has been reported previously.
CI  - (c) 2022 The Authors.
FAU - Ansari, Behnaz
AU  - Ansari B
AD  - Neurologist, Isfahan Neuroscience Research Center, Al-Zahra Hospital Research 
      Institute, Department of Pediatric Neurology, Isfahan University of Medical 
      Science, Isfahan, Iran.
FAU - Nasiri, Jafar
AU  - Nasiri J
AD  - Professor of Neurology, Department of Pediatric Neurology, Faculty of Medicine, 
      Isfahan University of Medical Sciences, Isfahan, Iran.
FAU - Namazi, Hamide
AU  - Namazi H
AD  - Medical Genetics, Medical Genetics Laboratory, Al-Zahra Hospital, Isfahan 
      University of Medical Sciences, Isfahan, Iran.
FAU - Sedghi, Maryam
AU  - Sedghi M
AD  - Medical Genetics, Medical Genetics Laboratory, Al-Zahra Hospital, Isfahan 
      University of Medical Sciences, Isfahan, Iran.
FAU - Afzali, Mahdieh
AU  - Afzali M
AD  - Neurologist, Department of Neurologist, School of Medicine, Yas Hospital, Tehran 
      University of Medical Sciences Tehran, Iran.
LA  - eng
PT  - Case Reports
DEP - 20220716
PL  - Iran
TA  - Iran J Child Neurol
JT  - Iranian journal of child neurology
JID - 101463836
PMC - PMC9531199
OTO - NOTNLM
OT  - Glycerophospholipids
OT  - Group VI Phospholipases A2
OT  - Muscle Hypotonia
OT  - Neurodegenerative Diseases
COIS- The authors declare no conflicts of interest.
EDAT- 2022/10/08 06:00
MHDA- 2022/10/08 06:01
PMCR- 2022/10/01
CRDT- 2022/10/07 02:53
PHST- 2020/06/11 00:00 [received]
PHST- 2021/05/10 00:00 [accepted]
PHST- 2022/10/07 02:53 [entrez]
PHST- 2022/10/08 06:00 [pubmed]
PHST- 2022/10/08 06:01 [medline]
PHST- 2022/10/01 00:00 [pmc-release]
AID - 10.22037/ijcn.v16i2.30864 [doi]
PST - ppublish
SO  - Iran J Child Neurol. 2022 Summer;16(3):193-198. doi: 10.22037/ijcn.v16i2.30864. 
      Epub 2022 Jul 16.