ArticleFrontiers in neurology2019
Early-Onset Parkinson's Disease Caused by PLA2G6 Compound Heterozygous Mutation, a Case Report and Literature Review.
Article in Frontiers in neurology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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16 citing papers in PubMed, 25 citations in OpenAlex.
- Rare Variants May Influence Disease Risk and Clinical Features in Sporadic Late-Onset Chinese Parkinson's Disease Patients.International journal of molecular sciences · 2026Article
- Quantitative and Qualitative MRI Assessment of Perivascular Spaces in Parkinson's Disease Patients.Medicina (Kaunas, Lithuania) · 2026Article
- Case Report: Where is the boundary between autosomal recessive early-onset Parkinson's disease and dystonia-parkinsonism: a case of PLA2G6-associated neurodegeneration.Frontiers in human neuroscience · 2026Article
- Parkinson disease is a fatty acidopathy.Nature reviews. Neurology · 2025Review
- A novel variant ofFrontiers in neurology · 2024Article
- LRRK2 and Lipid Pathways: Implications for Parkinson's Disease.Biomolecules · 2022Review
- Cerebral Iron Deposition in Neurodegeneration.Biomolecules · 2022Review
- Non-Motor Symptoms inJournal of clinical medicine · 2022Article
- A case of neurodegenerative disorder caused by PLA2G6 compound heterozygous pathogenic variant and SCA17 pathogenic variant.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022Article
- Case Report: A case ofFrontiers in neuroscience · 2022Article
- Severe Early-Onset Parkinsonian Syndrome Caused byMovement disorders clinical practice · 2021Article
- Ceramide Metabolism and Parkinson's Disease-Therapeutic Targets.Biomolecules · 2021Review
- The role of brain perivascular space burden in early-stage Parkinson's disease.NPJ Parkinson's disease · 2021Article
- Pluripotent Stem Cell Derived Neurons as In Vitro Models for Studying Autosomal Recessive Parkinson's Disease (ARPD): PLA2G6 and Other Gene Loci.Advances in experimental medicine and biology · 2021Article
- Overdosing on iron: Elevated iron and degenerative brain disorders.Experimental biology and medicine (Maywood, N.J.) · 2020Review
- Primate differential redoxome (PDR) - A paradigm for understanding neurodegenerative diseases.Redox biology · 2020Article
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10 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
PLA2G6 has been certified as a causative gene in patients with autosomal recessive early-onset Parkinson's disease (EOPD). We reported an EOPD case caused by PLA2G6 gene mutation, and performed neurological examination, genetic analysis, and multimodal neuroimaging to describe this phenotype. A compound heterozygous mutation c.991G>T/c.1472+1G>A was detected in this patient. Heterozygous for the c.991G>T and c.1472+1G>A were separately detected in his parents. Pathogenicity of these two mutations were predicted according to the American college of medical genetics and genomics (ACMG) guideline. MRI assessment showed absence of bilateral "swallow tail sign" and cerebellar atrophy in this patient, while no obvious difference in brain iron accumulation between PLA2G6 mutant PD patient and healthy controls. Cerebellar abnormalities may be a marker for diagnosis and evaluation of PLA2G6 mutation Parkinsonism. However, the iron accumulation in PD may not be the result of PLA2G6 mutation.
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