ReviewEuropean neurology2020
Neutral Lipid Storage Disease Associated with the PNPLA2 Gene: Case Report and Literature Review.
Review in European neurology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 9 citations in OpenAlex.
- Delving into the clinical and genetic spectrum of NLSDM: A case study.Journal of neuromuscular diseases · 2026Article
- Case Report: a novelFrontiers in genetics · 2026Article
- Clinicopathological-genetic features of neutral lipid storage disease with myopathy from a Chinese neuromuscular center.Orphanet journal of rare diseases · 2025Article
- Long-term survival and durable recovery of heart failure in patients with triglyceride deposit cardiomyovasculopathy treated with tricaprin.Nature cardiovascular research · 2025Article
- Case Report: PathogenicFrontiers in genetics · 2025Article
- Neutral lipid storage disease with myopathy and myotonia associated to pathogenic variants on PNPLA2 and CLCN1 genes: case report.BMC neurology · 2023Article
- Review
Corrections and comments
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Authors and funding
13 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in the PNPLA2 gene cause neutral lipid storage disease with myopathy (NLSDM) or triglyceride deposit cardiomyovasculopathy. We report a detailed case study of a 53-year-old man with NLSDM. The PNPLA2 gene was analyzed according to the reported method. We summarized the clinical, laboratory, and genetic information of 56 patients, including our patient and 55 other reported patients with homozygous or compound heterozygous mutations in the PNPLA2 gene. We found a novel homozygous mutation (c.194delC) in the PNPLA2 gene that resulted in frameshift. The patient suffered from normal-tension glaucoma and pulmonary cysts, symptoms that are relatively common in the elderly but were not previously reported for this disease. Our summary confirmed that Jordan's anomaly, polymorphonuclear leukocytes with lipid accumulation, was the most consistent finding of this disease. Because this disease is potentially treatable, our results may help rapid and correct diagnosis.
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