This article describes the clinical, genetic, and radiographic features of inherited leukoencephalopathies presenting in adulthood.
In recent years, the molecular basis for several inherited leukoencephalopathies, presenting exclusively in adults, has been discovered. Inherited leukoencephalopathies, previously described in children, have been found to have milder or later onset forms presenting in adults.
Although individually rare, inherited leukoencephalopathies are important to consider in the differential diagnosis of cognitive decline. Patients with inherited leukoencephalopathies frequently present to multiple sclerosis and dementia clinics. Clinical and radiographic features can be used to guide investigations in these patients.
Address correspondence to Dr Deborah L. Renaud, Mayo Clinic, 200 First St SW, Rochester, MN 55905, firstname.lastname@example.org.
Relationship Disclosure: Dr Renaud serves on the editorial boards of the Journal of Child Neurology and Pediatric Neurology.
Unlabeled Use of Products/Investigational Use Disclosure: Dr Renaud reports no disclosure.