Lamin B1 (LMNB1) is a type V intermediate filament protein and is one of the major
components of the nuclear lamina, a filamentous meshwork underlying the inner nuclear
membrane of Eukaryotic cells. LB1 forms a stable structure in the nuclear lamina and
nucleoplasm and, together with other lamins (e.g., lamin A/C), contributes to determine
nuclear structure and function. Recently, Padiath and colleagues found that duplication
of the gene encoding LMNB1 protein is associated with the development of adult-onset
autosomal dominant leukodystrophy (ADLD). ADLD is the first laminopathy affecting
the central nervous system (CNS) and is characterized by widespread demyelination
of the CNS with vacuolated white matter with abundant oligodendrocytes within the
lesions, sparse astrocytes with beaded and foreshortened processes and absence of
inflammatory infiltrates and activated microglia ADLD is a rare disease presenting
in the 4th decade with progressive autonomic failure (bladder and OH) associated with
cerebellar and pyramidal signs.
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Publication history
Received:
May 15,
2013
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Copyright
© 2013 Published by Elsevier Inc.
