Genomic DNA was extracted from fresh peripheral blood leukocytes, and whole exome sequencing (WES) libraries were generated using the Agilent SureSelect Human All Exon V6 Kit (Agilent Technologies, Santa Clara, CA, United States), and then sequenced as described previously [19 (link)]. CSF samples were collected at our hospital and sent to the Chinese Center for Disease Control and Prevention (CDC) to detect CSF 14-3-3 protein via Western blotting [20 (link)]. EEG was performed using a 21-channel digital EEG system (Micromed, Italy). PSWC was defined according to the criteria published in 1996 [21 (link)]. Brain MRI scans were performed on a 3.0T MRI scanner (Erlangen, Germany) and T1-weighted image (T1WI), T2-weighted image (T2WI), fluid-attenuated inversion recovery (FLAIR), diffusion-weighted imaging (DWI), and diffusion coefficient (ADC) results were acquired. The typical MRI features were high signals in caudate/putamen or at least two cortical regions (temporal, parietal and occipital) either via DWI or FLAIR. The CSF RT-QuIC assay was performed at the Chinese CDC using the protocol as described previously [22 (link)]. PET scans were performed on the GE Signa PET/MR 3.0 Tesla scanner (GE Healthcare Milwaukee, WI) using 18F-FDG (~308 MBq) to assess the metabolism of brain.
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