Jan J A van den Dorpel, Willemijn M C van der Vlugt, Marjolein H G Dremmen, Ryan Muetzel, Esther van den Berg, Roos Hest, Joni de Kriek, Esther Brusse, Pieter A van Doorn, Ans T van der Ploeg, Johanna M P van den Hout, Nadine A M E van der Beek
Our objective was to investigate brain structure, cerebral vasculature, and cognitive function in a cohort of patients with late-onset Pompe disease, with particular reference to the differences from those with the classic infantile phenotype, where extensive white-matter abnormalities (WMA) and impaired cognition on long-term enzyme treatment are reported in a subset of patients. Brain imaging (T1, T2, T2 fluid-attenuated inversion recovery, susceptibility-weighted images, and magnetic resonance angiography-time of flight) was combined with extensive cognitive testing of general intelligence (Wechsler IQ Test, Montreal Cognitive Assessment [MoCA]) and specific neuropsychological domains (verbal fluency, cognitive flexibility, attention, memory, and visuospatial abilities)...
May 2022: Journal of Inherited Metabolic Disease