Consensus statement on preventive and symptomatic care of leukodystrophy patients

Keith Van Haren, Joshua L. Bonkowsky, Genevieve Bernard, Jennifer L. Murphy, Amy Pizzino, Guy Helman, Dean Suhr, Jacque Waggoner, Don Hobson, Adeline Vanderver, Marc C. Patterson

Research output: Contribution to journalArticle

12 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)516-526
Number of pages11
JournalMolecular Genetics and Metabolism
Volume114
Issue number4
DOIs
StatePublished - Apr 1 2015

Keywords

  • Care
  • Consensus
  • Leukodystrophy
  • Outcomes
  • Prevention
  • Therapy

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology
  • Endocrinology, Diabetes and Metabolism

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  • Cite this

    Van Haren, K., Bonkowsky, J. L., Bernard, G., Murphy, J. L., Pizzino, A., Helman, G., Suhr, D., Waggoner, J., Hobson, D., Vanderver, A., & Patterson, M. C. (2015). Consensus statement on preventive and symptomatic care of leukodystrophy patients. Molecular Genetics and Metabolism, 114(4), 516-526. https://doi.org/10.1016/j.ymgme.2014.12.433