title: Consensus statement on preventive and symptomatic care of leukodystrophy patients.
abstract: Leukodystrophies are inherited disorders whose primary pathophysiology consists of abnormal deposition or progressive disruption of brain myelin. Leukodystrophy patients manifest many of the same symptoms and medical complications despite the wide spectrum of genetic origins. Although no definitive cures exist, all of these conditions are treatable. This report provides the first expert consensus on the recognition and treatment of medical and psychosocial complications associated with leukodystrophies. We include a discussion of serious and potentially preventable medical complications and propose several preventive care strategies. We also outline the need for future research to prioritize clinical needs and subsequently develop, validate, and optimize specific care strategies.
authors.affiliation: Department of Neurology, Lucile Packard Children's Hospital and Stanford University School of Medicine, Stanford, CA, USA. Electronic address: kpv@stanford.edu.
authors.forename: Keith
authors.initials: K
authors.lastname: Van Haren
authors.affiliation: Department of Pediatrics and Neurology, University of Utah School of Medicine, Salt Lake City, UT, USA.
authors.forename: Joshua L
authors.initials: JL
authors.lastname: Bonkowsky
authors.affiliation: Departments of Pediatrics, Neurology and Neurosurgery Montreal Children's Hospital/McGill University Health Center, Montreal, Canada.
authors.forename: Genevieve
authors.initials: G
authors.lastname: Bernard
authors.affiliation: Department of Neurology, Children's National Medical Center, Washington DC, USA.
authors.forename: Jennifer L
authors.initials: JL
authors.lastname: Murphy
authors.affiliation: Department of Neurology, Children's National Medical Center, Washington DC, USA.
authors.forename: Amy
authors.initials: A
authors.lastname: Pizzino
authors.affiliation: Department of Neurology, Children's National Medical Center, Washington DC, USA.
authors.forename: Guy
authors.initials: G
authors.lastname: Helman
authors.affiliation: MLD Foundation, USA.
authors.forename: Dean
authors.initials: D
authors.lastname: Suhr
authors.affiliation: The Hunter's Hope Foundation, Buffalo, NY, USA.
authors.forename: Jacque
authors.initials: J
authors.lastname: Waggoner
authors.affiliation: The PMD Foundation, USA.
authors.forename: Don
authors.initials: D
authors.lastname: Hobson
authors.affiliation: Department of Neurology, Children's National Medical Center, Washington DC, USA; Department of Integrated Systems Biology, George Washington University School of Medicine, Washington DC, USA; Center for Genetic Medicine Research, Children's National Health System, Washington DC, USA.
authors.forename: Adeline
authors.initials: A
authors.lastname: Vanderver
authors.affiliation: Departments of Neurology, Pediatrics and Medical Genetics, Mayo Clinic, Rochester, MN, USA.
authors.forename: Marc C
authors.initials: MC
authors.lastname: Patterson
mesh_terms: D003711:Demyelinating Diseases / Q000175:diagnosis / Q000628:therapy; D019468:Disease Management; D006801:Humans; D056784:Leukoencephalopathies / Q000175:diagnosis / Q000628:therapy; D009186:Myelin Sheath / Q000502:physiology
keywords: Care; Consensus; Leukodystrophy; Outcomes; Prevention; Therapy