Problem

Pelizaeus-Merzbacher disease

Nature:

Pelizaeus–Merzbacher disease is an X-linked neurological disorder that damages oligodendrocytes in the central nervous system. It is caused by mutations in proteolipid protein 1 (PLP1), a major myelin protein. It is characterized by a decrease in the amount of insulating myelin surrounding the nerves (hypomyelination) and belongs to a group of genetic diseases referred to as leukodystrophies.

Subject(s):
Medicine Pathology
Problem Type:
G: Very specific problems
Date of last update
04.10.2020 – 22:48 CEST