PURPOSE
Multiple sclerosis (MS) is a demyelinating disease of the central nervous system influenced by both genetic and environmental factors. Although a polygenic risk score for MS (MS-PRS) is associated with disease susceptibility, its relationship with white matter (WM) microstructure and cognition in neurologically...
Chen-Yue Feng, J. Kikuta, A. Hagiwara et al.· Magnetic Resonance in Medica...· 0 citations
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
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
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