Includes AIMP1-mutation related hypomyelination
Inheritance from both parents will result in the disease
Age range at onset:
Neonatal or infancy
Specialists you may see:
Clinically and radiologically, symptoms of Pelizaeus-Merzbacher like Disease are identical to those of Pelizaeus-Merzbacher disease.
These symptoms are early-onset nystagmus, delayed motor milestones, progressive spasticity and ataxia. Microcephaly is common, as is an absence of speech and kyphoscoliosis.
These symptoms can be caused by mutations in the AIMP1 gene, while other forms of PMLD are caused by mutations in the GJC2 gene encoding the protein C2. Mutations of other genes affecting myelination may cause other forms of PMLD but have not yet been identified.
HSPD1-related hypomyelination presents as very similar to severe PMLD, with a different genetic cause and no further neuronal involvement besides white matter.