Other Names for this Disease
- Pelizaeus Merzbacher disease
- Pelizaeus Merzbacher brain sclerosis
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leukodystrophy and is characterized by problems with coordination, motor skills, and learning. The age of onset and the severity of the symptoms varies greatly depending on the type of disease. It is caused by an inability to form myelin due to mutations in the PLP1 gene. It is passed through families in an X-linked recessive pattern. The condition primarily affects males. Treatment requires a multidisciplinary team approach, with members dictated by the presenting symptoms.Pelizaeus-Merzbacher disease is a disorder that affects the brain and spinal cord. It is a type of
Last updated: 3/23/2016
- Pelizaeus-Merzbacher disease. Genetics Home Reference. March 2008; https://ghr.nlm.nih.gov/condition/pelizaeus-merzbacher-disease.
- NINDS Pelizaeus-Merzbacher Disease Information Page. National Institute of Neurological Disorders and Stroke (NINDS). October 22, 2012; http://www.ninds.nih.gov/disorders/pelizaeus_merzbacher/pelizaeus_merzbacher.htm.
- Hobson G, Kamholtz J. PLP1-Related Disorders. GeneReviews. February 28, 2013; http://www.ncbi.nlm.nih.gov/books/NBK1182/.
- The Cleveland Clinic Web site has an information page on Pelizaerus-Merzbacher disease. Click on Cleveland Clinic to view this information page.
- Genetics Home Reference (GHR) contains information on Pelizaeus-Merzbacher disease. This website is maintained by the National Library of Medicine.
- Medline provides a list of resources on leukodystrophies. MedlinePlus is a Web site designed by the National Library of Medicine to help you research your health questions.
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- The Wayne State University Web site has an information page on Pelizaeus-Merzbacher disease. Click on Wayne State University to view the information page.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Pelizaeus-Merzbacher disease. Click on the link to view a sample search on this topic.