PMID- 29539587
OWN - NLM
STAT- MEDLINE
DCOM- 20190813
LR  - 20221207
IS  - 1872-6968 (Electronic)
IS  - 0303-8467 (Linking)
VI  - 168
DP  - 2018 May
TI  - Patients with neutral lipid storage disease with myopathy (NLSDM) in Southwestern 
      China.
PG  - 102-107
LID - S0303-8467(18)30096-9 [pii]
LID - 10.1016/j.clineuro.2018.03.001 [doi]
AB  - OBJECTIVES: Neutral lipid storage disease with myopathy (NLSDM) is a rare 
      metabolic myopathy occurring owing to mutations in the patatin like phospholipase 
      domain containing 2 (PNPLA2) gene. Till date, less than 50 patients with PNPLA2 
      mutations have been reported. In this study, we describe the clinical, 
      pathological, and genetic findings, and muscle magnetic resonance imaging (MRI) 
      changes in four Chinese patients with NLSDM. PATIENTS AND METHODS: Peripheral 
      blood smears were stained using Wright's stain. Muscle biopsies, muscle MRI, and 
      sequence analysis of PNPLA2 gene were performed. RESULTS: All patients exhibited 
      slowly progressive myopathy during adulthood. Cardiomyopathy, sensorineural 
      hearing loss, hepatic adipose infiltration, and hypertriglyceridemia were 
      observed in some patients. Jordan's anomaly was detected in the blood smears of 
      all patients. Muscle biopsies revealed the presence of massive lipid droplets and 
      rimmed vacuoles in two patients. MR images of the lower lumbar, pelvis, and lower 
      extremities showed the involvement of posterior compartment muscles. The anterior 
      compartment muscles were found to be less affected. Gene analysis for PNPLA2 
      revealed an identical homozygous mutation c.757 + 1G > T in all patients. 
      CONCLUSION: Patients with NLSDM display clinical heterogeneities despite sharing 
      the same mutation (c.757 + 1G > T) of the PNPLA2 gene, may suggest a founder 
      effect in the region.
CI  - Copyright (c) 2018 Elsevier B.V. All rights reserved.
FAU - Tan, Jiaze
AU  - Tan J
AD  - Department of Neurology, The First Affiliated Hospital of Chongqing Medical 
      University, Chongqing Key Laboratory of Neurology, Chongqing 400016, China.
FAU - Yang, Haitao
AU  - Yang H
AD  - Department of Radiology, The First Affiliated Hospital of Chongqing Medical 
      University, Chongqing 400016, China.
FAU - Fan, Jingchuan
AU  - Fan J
AD  - Department of Medical Laboratory Technology, Institute of Life Sciences of 
      Chongqing Medical University, Chongqing 400016, China.
FAU - Fan, Yulan
AU  - Fan Y
AD  - Department of Neurology, The First Affiliated Hospital of Chongqing Medical 
      University, Chongqing Key Laboratory of Neurology, Chongqing 400016, China.
FAU - Xiao, Fei
AU  - Xiao F
AD  - Department of Neurology, The First Affiliated Hospital of Chongqing Medical 
      University, Chongqing Key Laboratory of Neurology, Chongqing 400016, China. 
      Electronic address: xiaofei@hospital.cqmu.edu.cn.
LA  - eng
PT  - Journal Article
DEP - 20180305
PL  - Netherlands
TA  - Clin Neurol Neurosurg
JT  - Clinical neurology and neurosurgery
JID - 7502039
RN  - EC 3.1.1.3 (Lipase)
RN  - EC 3.1.1.3 (PNPLA2 protein, human)
RN  - Chanarin-Dorfman Syndrome
RN  - Neutral Lipid Storage Disease with Myopathy
MH  - Adult
MH  - Asian People
MH  - Biopsy
MH  - China
MH  - Female
MH  - Humans
MH  - Ichthyosiform Erythroderma, Congenital/genetics
MH  - Lipase/*genetics
MH  - Lipid Metabolism, Inborn Errors/*genetics
MH  - Male
MH  - Middle Aged
MH  - Muscle, Skeletal/pathology
MH  - Muscular Diseases/*genetics/pathology
MH  - Mutation/*genetics
OTO - NOTNLM
OT  - Adipose triglyceride lipase (ATGL)
OT  - Jordan's anomaly
OT  - Muscle pathology
OT  - Neutral lipid storage disease with myopathy (NLSDM)
OT  - Patatin-like phospholipase domain containing 2 (PNPLA2)
OT  - Rimmed vacuoles
EDAT- 2018/03/15 06:00
MHDA- 2019/08/14 06:00
CRDT- 2018/03/15 06:00
PHST- 2017/11/30 00:00 [received]
PHST- 2018/01/27 00:00 [revised]
PHST- 2018/03/01 00:00 [accepted]
PHST- 2018/03/15 06:00 [pubmed]
PHST- 2019/08/14 06:00 [medline]
PHST- 2018/03/15 06:00 [entrez]
AID - S0303-8467(18)30096-9 [pii]
AID - 10.1016/j.clineuro.2018.03.001 [doi]
PST - ppublish
SO  - Clin Neurol Neurosurg. 2018 May;168:102-107. doi: 10.1016/j.clineuro.2018.03.001. 
      Epub 2018 Mar 5.