ArticlePloS one2016
Genetic Analysis of PLA2G6 in 22 Indian Families with Infantile Neuroaxonal Dystrophy, Atypical Late-Onset Neuroaxonal Dystrophy and Dystonia Parkinsonism Complex.
Article in PloS one, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 36 citations in OpenAlex.
- Regression, Ataxia, and Nystagmus in a Toddler: Unraveling a Rare Neurodegenerative Disorder.Clinical case reports · 2026Article
- Infantile neuroaxonal dystrophy: Molecular mechanisms and pathogenesis of PLA2G6-associated neurodegeneration.AIMS neuroscience · 2025Review
- The mechanism of allosteric regulation of calcium-independent phospholipase AProceedings of the National Academy of Sciences of the United States of America · 2024Article
- Infantile Neuroaxonal Dystrophy: Case Report and Review of Literature.Medicina (Kaunas, Lithuania) · 2024Review
- A novel variant ofFrontiers in neurology · 2024Article
- Neurodegeneration with brain iron accumulation: a case series highlighting phenotypic and genotypic diversity in 20 Indian families.Neurogenetics · 2023Article
- Whole exome screening of neurodevelopmental regression disorders in a cohort of Egyptian patients.Neurogenetics · 2023Article
- Utility of Clinical Exome Sequencing in Dystonia: A Single-Center Study From India.Journal of movement disorders · 2022Article
- NovelFrontiers in neurology · 2022Article
- Novel deep intronic mutation in PLA2G6 causing early-onset Parkinson's disease with brain iron accumulation through pseudo-exon activation.Neurogenetics · 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
- [Clinical features of infantile neuroaxonal dystrophy and PLA2G6 gene testing].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2019Article
- Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patients.Journal of neurology · 2019Article
- Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family.BMC medical genetics · 2018Article
- Mutations in the Drosophila homolog of human PLA2G6 give rise to age-dependent loss of psychomotor activity and neurodegeneration.Scientific reports · 2018Article
- Infantile Neuroaxonal Dystrophy: Diagnosis and Possible Treatments.Frontiers in genetics · 2018Article
- PLA2G6-Associated Neurodegeneration (PLAN): Review of Clinical Phenotypes and Genotypes.Frontiers in neurology · 2018Review
- Article
- Atypical Childhood-onset Neuroaxonal Dystrophy in an Indian Girl.Journal of pediatric neurosciencesArticle
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Authors and funding
15 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in PLA2G6 were identified in patients with a spectrum of neurodegenerative conditions, such as infantile neuroaxonal dystrophy (INAD), atypical late-onset neuroaxonal dystrophy (ANAD) and dystonia parkinsonism complex (DPC). However, there is no report on the genetic analysis of families with members affected with INAD, ANAD and DPC from India. Therefore, the main aim of this study was to perform genetic analysis of 22 Indian families with INAD, ANAD and DPC. DNA sequence analysis of the entire coding region of PLA2G6 identified 13 different mutations, including five novel ones (p.Leu224Pro, p.Asp283Asn, p.Arg329Cys, p.Leu491Phe, and p.Arg649His), in 12/22 (54.55%) families with INAD and ANAD. Interestingly, one patient with INAD was homozygous for two different mutations, p.Leu491Phe and p.Ala516Val, and thus harboured four mutant alleles. With these mutations, the total number of mutations in this gene reaches 129. The absence of mutations in 10/22 (45.45%) families suggests that the mutations could be in deep intronic or promoter regions of this gene or these families could have mutations in a yet to be identified gene. The present study increases the mutation landscape of PLA2G6. The present finding will be useful for genetic diagnosis, carrier detection and genetic counselling to families included in this study and other families with similar disease condition.
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