ArticleJournal of human genetics2019
PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic paraplegia.
Article in Journal of human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. It is linked to trial NCT05440994 (Phenotypic Description of Patients With Atypical Clinical Forms of PLA2G6 Mutations), which is not on this map. Cited by 12 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Phenotypic Description of Patients With Atypical Clinical Forms of PLA2G6 Mutations
Who cites it
12 citing papers in PubMed.
- Iron and selenium: At the crossroads of development and death in oligodendrocytes.Archives of biochemistry and biophysics · 2025Review
- Elevated serum autotaxin levels and multiple system atrophy-like presentation in a patient with PLA2G6-associated neurodegeneration.Journal of human genetics · 2025Article
- Glycerophospholipids: Roles in Cell Trafficking and Associated Inborn Errors.Journal of inherited metabolic disease · 2025Review
- The Clinical, Radiological and Genetic Spectrum ofTremor and other hyperkinetic movements (New York, N.Y.) · 2024Observational
- Genetic Movement Disorders Commonly Seen in Asians.Movement disorders clinical practice · 2023Review
- Clinical and genetic characterization of a Taiwanese cohort with spastic paraparesis combined with cerebellar involvement.Frontiers in neurology · 2022Article
- Genetic Analysis of Patients With Early-Onset Parkinson's Disease in Eastern China.Frontiers in aging neuroscience · 2022Article
- [Research advances in the pathogenesis and treatment of neurodegeneration with brain iron accumulation].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2021Article
- VPS13D promotes peroxisome biogenesis.The Journal of cell biology · 2021Article
- New Insights of Phospholipase A2 Associated Neurodegeneration Phenotype Based on the Long-Term Follow-Up of a Large Hungarian Family.Frontiers in genetics · 2021Article
- Genotype-phenotype correlations of adult-onset PLA2G6-associated Neurodegeneration: case series and literature review.BMC neurology · 2020Review
- PLA2G6-Associated Neurodegeneration (PLAN): Review of Clinical Phenotypes and Genotypes.Frontiers in neurology · 2018Review
Corrections and comments
- Erratum issued
Authors and funding
12 authors.
Funding
Abstract
PLA2G6-associated neurodegeneration (PLAN) comprises heterogeneous neurodegenerative disorders, including infantile neuroaxonal dystrophy, neurodegeneration with brain iron accumulation 2B, and Parkinson disease 14 (PARK14). In addition, very recently, PLA2G6 mutations have been reported to represent a phenotype of hereditary spastic paraplegia (HSP). In this study, we screened 383 HSP families to clarify the frequency of PLA2G6 mutations in the Japan Spastic Paraplegia Research Consortium, and revealed the clinical characteristics of HSP with PLA2G6 mutations. We found three families with compound heterozygous mutations of the PLA2G6 gene, c.517 C > T/c.1634A > G, c.662 T > C/c.991 G > T, and c.1187-2 A > G/c.1933C > T, and one family with a homozygous mutation of the PLA2G6 gene, c.1904G > A/c.1904G > A. All three families with compound heterozygous mutations presented a uniform phenotype of a complicated form of HSP with infantile/child-onset spastic paraplegia, cerebellar ataxia, and mental retardation. On the other hand, the family with a homozygous mutation presented a late-onset complicated form of HSP with parkinsonism. This study may extend the clinical and genetic findings for PLAN.
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Registered trials
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