Pelizaeus-Merzbacher disease (PMD) is a rare disorder that usually affects only males. It results from genetic alteration or mutation of the gene for proteolipid protein 1 (PLP1), the major protein in the myelin of the central nervous system (the brain and spinal cord). A milder form of the disease, spastic paraplegia type 2 (SPG2) is also caused by mutations of the PLP1 gene. We have organized some information that we hope will be of use to families affected by this neurologic disorder and also for physicians who care for PMD patients, as well as for researchers who are trying to learn more about this condition and to develop effective treatments for PMD. A list of links to PMD related sites follows:

Overview of PMD

A brief description of PMD from a parent's perspective

PMD information from the National Institutes of Health

Link to the PMD Foundation

Geneclinics review on PMD and PLP1-related disorders (technical article for geneticists and other clinicians)

Descriptions of PMD and spastic paraplegia type 2 (SPG2) from the Online Mendelian Inheritance in Man database (technical).

Picture of an oligodendrocyte (the cells that make myelin in the brain and spinal cord), myelin and proteolipid protein 1.

Sequence of the human PLP1 gene.

Human PLP1 mutation table

PMD family support group

The PMD program in the Department of Neurology is directed by Dr. Garbern. Angela Trepanier, a certified genetics counselor, can arrange services such as genetic testing, education, and counseling for PMD. A research program, lead by Drs. Alexander Gow and James Garbern is recruiting PMD patients who have missense mutations of the PLP1 gene to participate in a study to help us undertand how PLP1 gene mutations cause neurologic disease. We hope our study will lead to development of real treatments.

James Garbern, MD, PhD	(313) 577-1689 voice (313) 577-7552 fax jgarbern@med.wayne.edu	To inquire about the PMD research study
John Kamholz, MD, PhD
Michael Shy, M.D.
Angela Trepanier, MS, CGC	(313) 577-3425
Alexander Gow, PhD

Back to Neurology Clinics List
Edited April 4, 2005