Chinese patients with adult onset leukodystrophy caused by CST3 variants

Leukodystrophies represent a group of cerebral white matter disorders that mainly affect axon-glia units.The disorders are clinically diverse and display significant genetic variability.It is challenging to differentiate hereditary leukodystrophies,particularly those that present in adulthood,from acquired leukodystrophies and other genetic disorders,such as multiple sclerosis(MS)or hereditary spastic paraplegia(HSP)(Wei et al.,2021).Over the past few decades,a series of causative genes associated with leukodystrophies have been identified(Kohler et al.,2018).Nevertheless,a significant proportion of patients still lack a precise molecular diagnosis.