Pelizaeus-Merzbacher like disease

A group of disorders that have clinical features idential to Pelizaeus-Merzbacher disease wtihout the PLP1 mutations. The main three are called Hypomyelinating Leukodystrophies

HLD2 caused by an autosomal recessive mutation of the GJC2 gene at 14q2.13

HLD3 caused by an autosomal recessive mutation of the AIMP1 gene at 4q24

HLD4 caused by an autsomal recessive mutation of the HSPD1 gene at 2q33.1

MR imaging and MRS show similar features to Pelizaeus Merzbacher disease due to PLP1 deletions