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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
Related
Pelizaeus-Merzbacher disease
General
demyelinating disease
disease/disorder primarily affecting brain
leukodystrophy
Database Correlations
OMIM 169500
References
OMIM :accession 169500