autosomal dominant adult-onset leukodystrophy (autosomal dominant Pelizaeus-Merzbacher disease)

Pathology

• symmetric demyelination of the central nervous system
• preservation of oligodendroglia in the presence of subtotal demyelination*
• lack of astrogliosis*

* distinguishes from multiple sclerosis & other demyelinating disorders

Genetics

• autosomal dominant
• associated with defects in LMNB1
• tandem genomic duplication resulting in an extra copy of the LMNB1 gene

Clinical manifestations

• slowly progressive & fatal
• presents in the 4th or 5th decade of life
• early autonomic abnormalities, pyramidal & cerebellar dysfunction

Differential diagnosis

• multiple sclerosis & other demyelinating disorders

More general terms

• demyelinating disease
• disease/disorder primarily affecting brain
• leukodystrophy

Additional terms

• Pelizaeus-Merzbacher disease

Database

• OMIM: https://mirror.omim.org/entry/169500