The Utility of Long‐Read Sequencing in Diagnosing Early Onset Parkinson's Disease
ONT 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.
Authors
- Kimberley J. Billingsley (ORCID: https://orcid.org/0000-0002-8003-4029)
- Rylee M. Genner (ORCID: https://orcid.org/0009-0004-8251-5960)
- Nobutaka Hattori (ORCID: https://orcid.org/0000-0002-2034-2556)
- Manabu Funayama (ORCID: https://orcid.org/0000-0002-7412-3631)
- Mikhail Kolmogorov (ORCID: https://orcid.org/0000-0002-5489-9045)
- Kenya Nishioka (ORCID: https://orcid.org/0000-0001-8607-9757)
- Kimberly Paquette (ORCID: https://orcid.org/0000-0003-3989-4614)
- Laksh Malik (ORCID: https://orcid.org/0000-0002-2498-146X)
- Satoshi Masuzugawa
- Kensuke Daida (ORCID: https://orcid.org/0000-0002-9177-9587)
- Mayu Ishiguro
- Breeana Baker
- Cornelis Blauwendraat (ORCID: https://orcid.org/0000-0001-9358-8111)
- Yuanzhe Li (ORCID: https://orcid.org/0000-0001-7570-3243)
- Makito Hirano (ORCID: https://orcid.org/0000-0003-0759-1627)
- Kenta Takahashi (ORCID: https://orcid.org/0000-0002-5971-9736)
- Hiroyo Yoshino (ORCID: https://orcid.org/0009-0002-6641-8728)
Institutions
- National Institutes of Health (US)
- Iwate Medical University (JP)
- RIKEN Center for Brain Science (JP)
- Juntendo University (JP)
- National Institute of Neurological Disorders and Stroke (US)
- National Institute on Aging (US)
- National Cancer Institute (US)
- Center for Cancer Research (US)
- Tokyo Metropolitan Geriatric Hospital (JP)
- Kindai University (JP)
Publication Details
- Journal
- Annals of Neurology
- Published
- 2024-12-19
- DOI
- https://doi.org/10.1002/ana.27155
- Citations
- 9
- Primary Topic
- Parkinson's Disease Mechanisms and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 3.32
Funders
- Japan Agency for Medical Research and Development
- Juntendo University
- Promotion and Mutual Aid Corporation for Private Schools of Japan
- National Institutes of Health
- Japan Society for the Promotion of Science
- Japan Science and Technology Agency
- Moonshot Research and Development Program