LSD Heterozygosity and Neurodegenerative Disease

Authors Dr Kim Hemsley and Nazzmer Nazri, from the Childhood Dementia Research Group, are joined by their colleague Dr Nick Smith to discuss their recent paper, as well as the wider implications of heterozygosity for Lysosomal Storage Disorders (LSDs) and whether these are associated with early-onset neurodegenerative disease. 50000 children a year are born with conditions associated with childhood dementia and as many as 1 in 40 people carry mutations associated with LSDs so the implications of their work are potentially very wide-ranging. Is SGSH heterozygosity a risk factor for early‐onset neurodegenerative disease? Meghan L. Douglass et al. https://doi.org/10.1002/jimd.12359