ArticleClinical genetics2017
PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia.
Article in Clinical genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. 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 24 papers.
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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
24 citing papers in PubMed.
- Unravelling homozygous PLA2G6 variants in Pakistani individuals with diverse clinical manifestations via whole exome sequencing.BMC medical genomics · 2025Article
- Iron and selenium: At the crossroads of development and death in oligodendrocytes.Archives of biochemistry and biophysics · 2025Review
- Glycerophospholipids: Roles in Cell Trafficking and Associated Inborn Errors.Journal of inherited metabolic disease · 2025Review
- A missense mutation in theFrontiers in neuroscience · 2024Article
- 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 Characterization and Founder Effect Analysis in Chinese Patients with Phospholipase A2-Associated Neurodegeneration.Brain sciences · 2022Article
- Non-Motor Symptoms inJournal of clinical medicine · 2022Article
- Clinical and genetic characterization of a Taiwanese cohort with spastic paraparesis combined with cerebellar involvement.Frontiers in neurology · 2022Article
- NovelFrontiers in neurology · 2022Article
- Importance of lipids for upper motor neuron health and disease.Seminars in cell & developmental biology · 2021Review
- 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
- [Clinical features of infantile neuroaxonal dystrophy and PLA2G6 gene testing].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2019Article
- Increased Diagnostic Yield of Spastic Paraplegia with or Without Cerebellar Ataxia Through Whole-Genome Sequencing.Cerebellum (London, England) · 2019Article
- iPLABiochimica et biophysica acta. Molecular and cell biology of lipids · 2019Review
- PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic paraplegia.Journal of human genetics · 2019Article
- R106C TFG variant causes infantile neuroaxonal dystrophy "plus" syndrome.Neurogenetics · 2018Article
- A Missense Mutation in the Vacuolar Protein Sorting 11 (G3 (Bethesda, Md.) · 2018Article
- Perspectives on the Genomics of HSP Beyond Mendelian Inheritance.Frontiers in neurology · 2018Review
Corrections and comments
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Authors and funding
17 authors.
Funding
Abstract
PLA2G6-associated neurodegeneration (PLAN) and hereditary spastic paraplegia (HSP) are 2 groups of heterogeneous neurodegenerative diseases. In this study, we report PLA2G6 gene mutations in 3 families from Turkey, Morocco, and Romania. Two affected Turkish siblings presenting HSP adds the disease to PLAN phenotypes. They were homozygous for the PLA2G6 missense c.2239C>T, p.Arg747Trp variant and the ages of onset were 9 and 21. Parkinsonism, dystonia or cognitive decline were not the clinical elements in these patients contrary to the cases that has been previously reported with the same variant, however, iron accumulation was evident in their cranial magnetic resonance imaging. The Moroccan patient was homozygous for a novel missense c.1786C>T, p.Leu596Phe variant and the Romanian patient had 2 novel mutations; c.1898C>T, p.Ala633Val and c.1765_1768del, p.Ser589ThrfsTer76. Both of these patients conformed better to childhood onset PLAN with the age of onset at 4 and 7 years, respectively. Interestingly, all identified mutations were affecting the highly conserved patatin-like phospholipase domain of the PLA2G6 protein.
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