ArticleActa neuropathologica communications2013
Extensive aggregation of α-synuclein and tau in juvenile-onset neuroaxonal dystrophy: an autopsied individual with a novel mutation in the PLA2G6 gene-splicing site.
Article in Acta neuropathologica communications, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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22 citing papers in PubMed, 43 citations in OpenAlex.
- Pathogenic variants in BORCS5 cause a spectrum of neurodevelopmental and neurodegenerative disorders with lysosomal dysfunction.The Journal of clinical investigation · 2026Article
- Infantile neuroaxonal dystrophy: Molecular mechanisms and pathogenesis of PLA2G6-associated neurodegeneration.AIMS neuroscience · 2025Review
- An estimation of global genetic prevalence of PLA2G6-associated neurodegeneration.Orphanet journal of rare diseases · 2024Article
- Understanding the pathogenic mechanisms and therapeutic effects in neurocysticercosis.Brain pathology (Zurich, Switzerland) · 2024Article
- PLA2G6-associated late-onset parkinsonism in a Sudanese family.Annals of clinical and translational neurology · 2023Article
- Article
- Cerebral Iron Deposition in Neurodegeneration.Biomolecules · 2022Review
- Classification of diseases with accumulation of Tau protein.Neuropathology and applied neurobiology · 2022Article
- Identification of a Novel Nonsense Mutation inFrontiers in neurology · 2022Article
- Neurodegenerative Disorders: Spotlight on Sphingolipids.International journal of molecular sciences · 2021Review
- Overdosing on iron: Elevated iron and degenerative brain disorders.Experimental biology and medicine (Maywood, N.J.) · 2020Review
- Neuropathology and pathogenesis of extrapyramidal movement disorders: a critical update. II. Hyperkinetic disorders.Journal of neural transmission (Vienna, Austria : 1996) · 2019Review
- Axonal swellings and spheroids: a new insight into the pathology of neurocysticercosis.Brain pathology (Zurich, Switzerland) · 2019Article
- PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic paraplegia.Journal of human genetics · 2019Article
- PLA2G6-Associated Neurodegeneration (PLAN): Review of Clinical Phenotypes and Genotypes.Frontiers in neurology · 2018Review
- Neuropathology of genetic synucleinopathies with parkinsonism: Review of the literature.Movement disorders : official journal of the Movement Disorder Society · 2017Review
- Monozygotic twins with infantile neuroaxonal dystrophy: A case report and literature review.Experimental and therapeutic medicine · 2016Article
- Review: Insights into molecular mechanisms of disease in neurodegeneration with brain iron accumulation: unifying theories.Neuropathology and applied neurobiology · 2016Review
- High expression of α-synuclein in damaged mitochondria with PLA2G6 dysfunction.Acta neuropathologica communications · 2016Article
- Article
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Authors and funding
9 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundInfantile neuroaxonal dystrophy (INAD) is a rare autosomal-recessive neurodegenerative disorder. Patients with INAD usually show neurological symptoms with infant onset and die in childhood. Recently, it was reported that mutations in the PLA2G6 gene cause INAD, but neuropathological analysis of genetically confirmed individuals with neuroaxonal dystrophy has been limited.
resultsHere, we report a Japanese individual with neuroaxonal dystrophy associated with compound heterozygous mutations in the PLA2G6 gene. A novel splice-site mutation resulting in skipping and missense mutations (p.R538C) in exon 9 was identified in the patient. This patient initially presented with cerebellar ataxia at the age of 3 years, which was followed by symptoms of mental retardation, extrapyramidal signs, and epileptic seizure. The patient survived until 20 years of age. Neuropathological findings were characterized by numerous axonal spheroids, brain iron deposition, cerebellar neuronal loss, phosphorylated alpha-synuclein-positive Lewy bodies (LBs), and phosphorylated-tau-positive neurofibrillary tangles. In particular, LB pathology exhibited a unique distribution with extremely severe cortical involvement.
conclusionsOur results support a genetic clinical view that compound heterozygous mutations with potential residual protein function are associated with a relatively mild phenotype. Moreover, the severe LB pathology suggests that dysfunction of the PLA2G6 gene primarily contributes to LB formation.
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