Importance of the glycosylation and polyadenylation variants in metachromatic leukodystrophy pseudodeficiency phenotype

Clinical symptoms of adult metachromatic leukodystrophy and arylsulfatase A pseudodeficiency.

OBJECTIVE To determine the clinical symptoms in adult metachromatic leukodystrophy and in adult pseudodeficiency for arylsulfatase A. DESIGN Case series. SETTING University hospital. PATIENTS Twenty-five adult patients with very low arylsulfatase A activity. RESULTS In 13 patients, a diagnosis of adult metachromatic leukodystrophy was made. The main symptoms were dementia, behavioral ab...

Late-onset metachromatic leukodystrophy: genotype strongly influences phenotype.

BACKGROUND P426L and I179S are the two most frequent mutations in juvenile and adult metachromatic leukodystrophy (late-onset MLD), which, in contrast to infantile MLD, show marked phenotypic heterogeneity. OBJECTIVE To search for genotype-phenotype correlations in late-onset MLD. METHODS The authors reviewed the clinical course of 22 patients homozygous for mutation P426L vs 20 patients he...

MR of childhood metachromatic leukodystrophy.

PURPOSE To investigate the MR findings of childhood metachromatic leukodystrophy (MLD). METHODS Nine MR imaging studies in seven children (five girls and two boys, 10 to 32 months old) with MLD were evaluated retrospectively for the extent and progression of white matter abnormalities and the presence of contrast enhancement. RESULTS All seven cases showed symmetric, confluent high signal i...

Metachromatic leukodystrophy: two sides of a coin.

Metachromatic Leukodystrophy Clinical, Biological and Therapeutic Aspects

Scholz’s disease or metachromatic leukodystrophy (MLD) is a lysosomal storage disease caused by a deficiency in arylsulfatase A (ARSA: EC 3.1.6.8). This enzyme is responsible for the degradation of sulfatides commonly called cerebroside-3-sulfate or 3-O sulfogalactosylceramide in galactocerebroside and sulfate. The success of hydrolysis of these sphingolipids by ARSA necessarily depends on the ...