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The LMNB1 gene at 5q23.2 codes for the 586 amino acid pro-peptide of lamin-B1 a lamin B component of the nuclear lamina.

Mutations cause adult-onset autosomal dominant demyelinating leukodystrophy (ADLD, Pelizaeus-Merzbacher disease). This is a slowly progressive and fatal demyelinating leukodystrophy, presenting in the fourth or fifth decade. There are autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS. It differs from multiple sclerosis in that neuropathology shows preservation of oligodendroglia in the presence of subtotal demyelination and lack of astrogliosis.

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