We support a novel definition of leukodystrophy that reflects the current knowledge: leukodystrophies are all genetically determined disorders primarily affecting the CNS white matter, irrespective of the structural white matter component involved, the molecular process affected and the disease course . In the wake of this definition, we here ...

To understand the molecular basis of the different forms of the disease, we analyzed arylsulfatase A alleles associated with metachromatic leukodystrophy. Two alleles (termed I and A) were...

2019年10月1日 · Improved diagnosis has revealed the phenotypic variability of leukodystrophies, requiring adaptation of prognostication. Technological advance in molecular techniques and improved insight into the pathophysiology of individual leukodystrophies have led to therapeutic developments, including drug design and gene therapy.

molecular techniques and improved insight into the pathophysiology of individual leukodystrophies have led to therapeutic developments, including drug design and gene therapy. Despite this progress, therapies are only beneficial early in the disease course, emphasising the need for a speedy diagnosis and for research on regenerative approaches

2001年1月1日 · Methods and results: To understand the molecular basis of the different forms of the disease, we analyzed arylsulfatase A alleles associated with metachromatic leukodystrophy. Two alleles (termed I and A) were identified and accounted for about half of all arylsulfatase A alleles among 68 patients with metachromatic leukodystrophy whom we examined.

1991年2月1日 · Three forms of metachromatic leukodystrophy are distinguished according to the age of onset: late infantile (1-2 years), juvenile (3-16), and adult (more than 16 years). The incidence is estimated at 1:40,000. These authors describe four genotypes as combinations of two arylsulfatase A alleles that cause MCL and a pseudo deficiency allele.

2025年1月1日 · A contemporary and practical definition is therefore that leukodystrophies are genetically determined disorders primarily affecting the central nervous system white matter, irrespective of the structural white matter component involved, the molecular process affected, and the disease course. 9 A useful classification was published by van der ...

The gene of arylsulphatase A has been cloned and several mutations causing metachromatic leukodystrophy have been characterized. The distribution of these alleles among patients with different clinical forms of the disease has revealed a genotype-phenotype correlation.

Globoid cell leukodystrophy is an autosomal recessive inherited disease caused by deficiency of the lysosomal enzyme galactocerebrosidase (GALC). Although the severe, rapidly progressing infantile form is the most common, late-onset forms have been described. We investigated the molecular basis of G …

Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder caused by the deficiency of arylsulphatase A (ASA; EC 3.1.6.8). Deficiency of this enzyme causes intralysosomal storage of the sphingolipid cerebroside sulphate. This lipid is abundant in myelin and it may thus not be surprising that storage mainly affects oligodendrocytes.