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  1. Exome Sequencing Identifies Population-Specific Genetic Risk Factors for Progressive Supranuclear Palsy in Asia
    Chen PS, Lin RJ, Chen HY, Cheng L, Hung MZ, Lee NC, et al.
    Mov Disord, 2026 Nov 01.
    PMID: 42967813 DOI: 10.1002/mds.70595
    BACKGROUND: Progressive supranuclear palsy (PSP) is a debilitating primary tauopathy. Although genome-wide association studies have identified risk loci in European populations, the genetic architecture of PSP in Asia remains largely undefined.

    OBJECTIVES: We aimed to identify population-specific genetic risk factors in Asian patients with PSP.

    METHODS: We performed whole-exome sequencing in 549 patients with PSP recruited across East and Southeast Asia. Variant frequencies were compared with 1492 whole-genome-sequenced controls from the Taiwan Biobank. Novel variants were functionally evaluated using cellular and Drosophila models.

    RESULTS: Among 549 patients (mean age at onset 65.1 ± 7.4 years; 60.47% male), 29 (5.28%) carried heterozygous pathogenic or likely pathogenic variants, including 12 novel variants. Additionally, 127 patients (23.13%) harbored 144 rare variants of uncertain significance with minor allele frequency 

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