Multimodal neuroimaging of Col4A1-mutant mouse models of Gould Syndrome

Gould syndrome is a multisystem disorder whose manifestations are highly variable. Animal studies suggest that allelic heterogeneity and genetic context contribute to the clinical variability. Clinical manifestations associated with Gould syndrome include blood–brain barrier (BBB) leakage, microbleeds, and white matter lesions. Here, we use multimodal MRI at 14.1Tesla to characterize radiological findings observed in mouse models of Gould syndrome caused by mutations in Collagen type IV alpha 1 (Col4a1). We show that multimodal MRI can successfully differentiate between disease subtypes based on anatomical changes as well as prevalence, number, volume and type of brain lesions.