Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2010:98:337-57.
doi: 10.1016/S0091-679X(10)98014-X.

Autosomal dominant leukodystrophy caused by lamin B1 duplications a clinical and molecular case study of altered nuclear function and disease

Quasar Saleem Padiath  1 , Ying-Hui Fu
Affiliations
Review

Autosomal dominant leukodystrophy caused by lamin B1 duplications a clinical and molecular case study of altered nuclear function and disease

Quasar Saleem Padiath et al. Methods Cell Biol. 2010.

Abstract

Autosomal dominant leukodystrophy (ADLD) is an adult-onset demyelinating disorder that has recently shown to be caused by duplications of the nuclear lamina gene, lamin B1. This chapter attempts to collate and summarize the current knowledge about the disease and the clinical, pathological, and radiological presentations of the different ADLD families described till date. It also provides an overview of the molecular genetics underlying the disease and the mechanisms that may cause the duplication mutation event. ADLD is the first disease that has ever been linked to lamin B1 mutations and it expands the pathological role of the nuclear lamia to include disorders of the brain. The chapter also speculates on the different mechanisms that may link an important and ubiquitous structure like the nuclear lamina with the complex and cell-specific functions of myelin formation and maintenance. Understanding these mechanisms may not only prove helpful in understanding ADLD pathology but can also help in identifying new pathways that may be involved in myelin biology that can have implications for common demyelinating diseases like multiple sclerosis.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

Publication types

MeSH terms

LinkOut - more resources