Genetic localization of an autosomal dominant leukodystrophy mimicking chronic progressive multiple sclerosis to chromosome 5q31

The hereditary leukodystrophies represent a group of neurological disorders , in which complete or partial dysmyelination occurs in either the central nervous system (CNS) and/or the peripheral nervous system. Adult-onset auto somal dominant leukodystrophy (ADLD) is a slowly progressive, neurological disorder characterized by symmetrical widespread myelin loss in the CNS, an d the phenotype is similar to that of chronic progressive multiple sclerosi s. We report clinical, neuroradiological and neuropathological data from th e originally reported ADLD family. furthermore, we have localized the gene that causes ADLD to a 4 cM region on chromosome 5q31. Linkage analysis of t his family yielded a LOD score of 5.72 at theta = 0.0 with the microsatelli te marker D5S804. Genetic localization will lead to cloning and characteriz ation of the ADLD gene and may yield new insights into myelin biology and d emyelinating diseases.