Raquel van Gool, Emma Golden, Benjamin Goodlett, Fan Zhang, Adam P Vogel, Jason A Tourville, Kylie Yao, Mariesa Cay, Sneham Tiwari, Edward Yang, Leo R Zekelman, Nick Todd, Lauren J O'Donnell, Boyu Ren, Olaf A Bodamer, Walla Al-Hertani, Jaymin Upadhyay
PURPOSE: Niemann-Pick Disease Type C (NPC) is a rare lysosomal storage disease characterized by progressive neurodegeneration and neuropsychiatric symptoms. This study investigated pathophysiological mechanisms underlying motor deficits, particularly speech production, and cognitive impairment. METHODS: We prospectively phenotyped 8 adults with NPC and age-sex-matched healthy controls using a comprehensive assessment battery, encompassing clinical presentation, plasma biomarkers, hand-motor skills, speech production, cognitive tasks, and (micro-)structural and functional CNS properties through MRI...
December 19, 2023: Genetics in Medicine: Official Journal of the American College of Medical Genetics