The ability to measure myelin in vivo has great consequences for furthering our knowledge
of normal development, as well as for understanding a wide range of neurological disorders …

Leukodystrophies usually affect children, but in the last several decades, many instances of
adult leukodystrophies have been reported in the medical literature. Because the clinical …

Background: There are many different white matter disorders, both inherited and acquired,
and consequently the diagnostic process is difficult. Establishing a specific diagnosis is often …

Chromosomal rearrangements with duplication of the lamin B1 (LMNB1) gene underlie
autosomal dominant adult-onset demyelinating leukodystrophy (ADLD), a rare neurological …

BACKGROUND AND PURPOSE: Achieving a specific diagnosis in leukodystrophies is often
difficult due to clinical and genetic heterogeneity. Mitochondrial defects cause 5%–10% of …

Adult-onset leukodystrophies though individually rare are not uncommon. This group
includes several disorders with isolated adult presentations, as well as several childhood …

Autosomal dominant leukodystrophy (ADLD) is an ultra-rare, slowly progressive, and fatal
neurodegenerative disorder associated with the loss of white matter in the central nervous …

The architecture and structural mechanics of the cell nucleus are defined by the nuclear
lamina, which is formed by A-and B-type lamins. Recently, gene duplication and protein …

The term leukodystrophy refers to a group of conditions that are inherited and involve the
progressive destruction or loss of previously acquired myelin. 1 The most commonly …

Lamin B1 is a component of the nuclear lamina and plays a critical role in maintaining
nuclear architecture, regulating gene expression and modulating chromatin positioning. We …