Abstract| Volume 177, ISSUE 1, P42, August 2013

Laminopathies and prion diseases abd their role on autonomic functions

      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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