ArticleAnnals of neurology2025
The Utility of Long-Read Sequencing in Diagnosing Early Onset Parkinson's Disease.
Article in Annals of neurology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed.
- Genetic findings in a Turkish clinical cohort with hereditary Parkinson's disease.Neurogenetics · 2026Article
- Complementarity of Long-Reads and Optical Mapping in Parkinson's Disease for Structural Variants.Annals of clinical and translational neurology · 2026Article
- Integrating Long-Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia.Movement disorders : official journal of the Movement Disorder Society · 2026Article
- Comprehensive genetic screening of the South African Parkinson's disease study collection using the NeuroBooster array.medRxiv : the preprint server for health sciences · 2025Article
- Compound Heterozygous Structural Variants in Cases with Unsolved PRKN-Associated Parkinson's Disease.Movement disorders : official journal of the Movement Disorder Society · 2025Article
- Electroconvulsive Therapy Can Prevent a Worsening of Psychosis and Dystonic Voice in PRKN-associated Parkinson's Disease.Internal medicine (Tokyo, Japan) · 2025Article
- Screening of Hidden Pathogenic Structural Variants in PRKN.Movement disorders : official journal of the Movement Disorder Society · 2025Article
- The Evolving Global Burden of Young-Onset Parkinson's Disease (1990-2021): Regional, Gender, and Age Disparities in the Context of Rising Incidence and Declining Mortality.Brain and behavior · 2025Article
- Exploration of Neurodegenerative Diseases Using Long-Read Sequencing and Optical Genome Mapping Technologies.Movement disorders : official journal of the Movement Disorder Society · 2025Review
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Authors and funding
17 authors.
Funding
Abstract
objectiveVariants in PRKN and PINK1 are the leading cause of early-onset autosomal recessive Parkinson's disease, yet many cases remain genetically unresolved. We previously identified a 7 megabases complex structural variant in a pair of monozygotic twins using Oxford Nanopore Technologies (ONT) long-read sequencing. This study aims to determine if ONT long-read sequencing can detect a second variant in other unresolved early-onset Parkinson's disease (EOPD) cases with 1 heterozygous PRKN or PINK1 variant.
methodsONT long-read sequencing was performed on EOPD patients with 1 reported PRKN/PINK1 pathogenic variant, with onset age under 50. Positive controls included EOPD patients with 2 known PRKN pathogenic variants. Initial testing involved short-read targeted panel sequencing for single nucleotide variants and multiplex ligation-dependent probe amplification for copy number variants.
resultsA total of 47 patients were studied (PRKN "one-variant," n = 23; PINK1 "one-variant," n = 12; PRKN "two-variants," n = 12). ONT long-read sequencing identified a second pathogenic variant in 26% of PRKN "one-variant" patients (6/23), but none in PINK1 "one-variant" patients (0/12). Detected variants included 1 complex inversion, 2 structural variant overlaps, and 3 duplications. In the PRKN "two-variants" group, both variants were identified in all patients (100%, 12/12).
interpretationONT long-read sequencing effectively identifies pathogenic structural variants in the PRKN locus missed by conventional methods. It should be considered for unresolved EOPD cases when a second variant is not detected through conventional approaches. ANN NEUROL 2025;97:753-765.
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