Leukodystrophies are genetically determined disorders characterized by the selective
involvement of the central nervous system white matter. Onset may be at any age, from …

Metachromatic leukodystrophy is an inherited lysosomal disorder caused by recessive
mutations in ARSA encoding arylsulfatase A. Low activity of arylsulfatase A results in the …

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 …

Introduction: Leukodystrophies constitute heterogenous group of rare heritable disorders
primarily affecting the white matter of central nervous system. These conditions are often …

The lysosomal storage disorder, GM1 gangliosidosis (GM1), is a neurodegenerative
condition resulting from deficiency of the enzyme β-galactosidase (β-gal). Mutation of the …

Deep medullary veins drain into subependymal veins with four convergence zones and
show parallel distribution patterns adjacent to the body or inferior horn and a radial pattern …

BACKGROUND AND PURPOSE: Metachromatic leukodystrophy (MLD) is a devastating
demyelinating disease for which novel therapies are being tested. We hypothesized that MR …

Objectives Metachromatic leukodystrophy (MLD) has characteristic white matter (WM)
changes on brain MRI, which often trigger biochemical and genetic confirmation of the …

Diagnosis of multiple sclerosis (MS) is based on the demonstration of dissemination of
lesions in space (DIS) and in time (DIT), as well as on the exclusion of an alternative …

Background In vanishing white matter (VWM), a form of leukodystrophy, earlier onset is
associated with faster clinical progression. MRI typically shows rarefaction and cystic …