Author

M. Funayama

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Open access Sep 2026

Analysis of east Asian Parkinson's disease Genomes Identifies Novel Susceptibility Loci and Functional Regulatory Variation

Background: Parkinson disease (PD) is a genetically complex neurodegenerative disorder, but most genetic discoveries have been derived from populations of European ancestry, limiting the understanding of ancestry-specific genetic risk. Methods: This GWAS included 5,825 East Asian participants (3,043 patients with PD an...

Q. Sun, E. Ng, T. S. Toh et al. · medRxiv · 0 citations

Case report Open access Aug 2026

Astrocyte-Predominant Tau Pathology in a Patient With VCP R191Q Variant.

Variants in the valosin-containing protein (VCP) gene cause multisystem proteinopathy, typically characterized by TDP-43 pathology. However, there are few reports describing tau pathology in VCP variant carriers. Here, we report a Japanese woman carrying a heterozygous VCP R191Q variant, who developed progressive muscl...

Daisuke Taniguchi, Ko Tsuyama, T. Hatano et al. · Neuropathology (Kyoto. 1993) · 0 citations