Francesco Gavazzi, Virali Patel, Brittany Charsar, Allan Glanzman, Jacqueline Erler, Anjana Sevagamoorthy, Emma McKenzie, Tracy Kornafel, Elizabeth Ballance, Samuel R Pierce, Michelle Teng, Brielle Formanowski, Sarah Woidill, Justine Shults, Evangeline Wassmer, Davide Tonduti, Francesca Magrinelli, Geneviève Bernard, Marjo Van Der Knaap, Nicole Wolf, Laura Adang, Adeline Vanderver
TUBB4A pathogenic variants are associated with a spectrum of neurologic impairments including movement disorders and leukodystrophy. With the development of targeted therapies, there is an urgent unmet need for validated tools to measure mobility impairment. Our aim is to explore gross motor function in a pediatric-onset TUBB4A -related leukodystrophy cohort with existing gross motor outcome tools. Gross Motor Function Measure-88 (GMFM-88), Gross Motor Function Classification System (GMFCS-ER), and Gross Motor Function Classification-Metachromatic Leukodystrophy (GMFC-MLD) were selected through face validity...
July 17, 2023: Journal of Child Neurology