Pelizaeus–Merzbacher disease

Pelizaeus–Merzbacher disease
Other namesCockayne-Pelizaeus-Merzbacher disease, Hypomyelinating leukodystrophy 1 (HLD 1), Sudanophilic leukodystrophy.
Pelizaeus–Merzbacher disease is inherited in an x-linked recessive manner
SpecialtyNeurology 

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.