Unified long-read panel for Parkinson's and repeat expansion disorders.

Fienemann A, Prietzsche JC, Laβ J, Much C, Schaake S, Lüth T, Gabbert C, Zimprich A, Stögmann E, König T, Ganos C, Gül-Demirkale T, Başak AN, Jamora RDG, Rosales RL, Saranza G, Diesta CCE, Möller M, Borsche M, Kleinz T, Balck A, Brüggemann N, Seibler P, Klein C, Trinh J.

NPJ Parkinsons Dis · 2026-09-24

Research overview

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In this study, we designed a gene panel based on Nanopore long-read sequencing using adaptive sampling, targeting n = 564 genes associated with Parkinson's disease (PD) and repeat expansion disorders. We investigated its diagnostic utility in n = 18 patients with (1) pathogenic variants in LRRK2, PRKN, SNCA, and RAB32 (n = 7); (2) idiopathic PD or FTD negative for known genetic causes (n = 3); (3) repeat expansions in ATXN1, ATXN2, ATXN3, C9orf72, DAB1, FGF14, HTT, and TAF1-SVA (n = 8). Three individuals were multiplexed per flow cell, achieving a mean coverage of 24X (SD = ± 9X) per sample. Ultimately, 17/20 (85%; Clopper-Pearson 95% CI: 62-97%) expected pathogenic variants were identified; i.e., an SNCA triplication and two repeat expansions in C9orf72 and TAF1-SVA were missed. Additional variants in STXBP2, AP4S1, RARS2, ALS2, and CNBP were identified in five patients. Adaptive sampling is a versatile genetic diagnostic tool in neurodegenerative disorders, while enabling cost-effective multiplexing. Further validation and improvements in bioinformatic analysis are needed.

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