ArticleBMC research notes2016
Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi families.
Article in BMC research notes, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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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.
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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.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 25 citations in OpenAlex.
- Clinical and genetic characteristics ofJournal of medical genetics · 2025Pooled it
- 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
- The Clinical, Radiological and Genetic Spectrum ofTremor and other hyperkinetic movements (New York, N.Y.) · 2024Observational
- A novel variant ofFrontiers in neurology · 2024Article
- Heterogeneity in biomarkers, mitogenome and genetic disorders of the Arab population with special emphasis on large-scale whole-exome sequencing.Archives of medical science : AMS · 2023Article
- NGS-driven molecular diagnosis of heterogeneous hereditary neurological disorders reveals novel and known variants in disease-causing genes.Molecular genetics and genomics : MGG · 2022Article
- Non-Motor Symptoms inJournal of clinical medicine · 2022Article
- NovelFrontiers in neurology · 2022Article
- Genotype-Phenotype Correlations in Monogenic Parkinson Disease: A Review on Clinical and Molecular Findings.Frontiers in neurology · 2021Review
- 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
- Genotype-phenotype correlations of adult-onset PLA2G6-associated Neurodegeneration: case series and literature review.BMC neurology · 2020Review
- Integrated Analysis of Whole Exome Sequencing and Copy Number Evaluation in Parkinson's Disease.Scientific reports · 2019Article
- Early-Onset Parkinson's Disease Caused by PLA2G6 Compound Heterozygous Mutation, a Case Report and Literature Review.Frontiers in neurology · 2019Article
- Mutations in the Drosophila homolog of human PLA2G6 give rise to age-dependent loss of psychomotor activity and neurodegeneration.Scientific reports · 2018Article
Corrections and comments
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Authors and funding
13 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundRecessive mutations in PLA2G6 have been associated with different neurodegenerative disorders, including infantile neuroaxonal dystrophy, neurodegeneration with brain iron accumulation and more recently, early-onset dystonia parkinsonism.
methodTargeted-next generation sequencing using a custom Neurology panel, containing 758 OMIM-listed genes implicated in neurological disorders, was carried out in two index cases from two different Saudi families displaying early-onset levodopa-responsive Parkinsonism with pyramidal signs and additional clinical features. The detected mutations were verified in the index cases and available family members by direct sequencing. RESULTS AND
conclusionWe identified a previously described PLA2G6 homozygous p.R741Q mutation in three affected and two asymptomatic individuals from two Saudi families. Our finding reinforces the notion of the broadness of the clinical spectrum of PLA2G6-related neurodegeneration.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.