leukodystrophy without arylsulfatase A deficiency: a new case of saposin-B deficiency.
Biochemical and genetic analysis of seven Korean individuals with suspected metachromatic
9) Amongst those involving predominantly white matter can be further categorised as predominant involvement of periventricular white matter as in Metachromatic
leukodystrophy, Classic X-linked adrenoleukodystrophy, Globoid cell leukodystrophy (Krabbe disease), vanishing white matter disease and those with predominant subcortical white matter involvement as Van Der Knaap disease.
The report provides comprehensive information on the therapeutics under development for Metachromatic
Leukodystrophy (MLD), complete with analysis by stage of development, drug target, mechanism of action (MoA), route of administration (RoA) and molecule type.
For agarose analysis, Am-1 and Am-2 exhibited single, homogeneous and coincident metachromatic
bands, while Am-3 presented a very clear band on gel; in addition, all of them had higher mobility than UHEP due to a different structural conformation and charge/mass ratio between SPs (Dietrich & Dietrich, 1976; Fidelis et al.
11) Familial mutations in the gene for arylsulfatase A also result in metachromatic
leukodystrophy, and adult onset can present with psychiatric symptoms, including delusions and hallucinations.
Based on different metachromatic
staining, granular amoebocytes are not thought to be a homogeneous population (Bigger and Hildemann, 1982).
On staining with toluidine blue there was increased metachromatic
reaction in the stroma of the villi surrounded by fibrinoid.
Microscopy of throat swab revealed rods containing metachromatic
granules on Albert stain.
Lentiviral hematopoieticstem cell genetherapy benefits metachromatic
In recent years, however, trials to deliver the enzyme protein to the central nervous system have been made by intrathecal administration of the enzyme in pre-clinical and clinical studies of metachromatic
leukodystrophy, (11) mucopolysaccharidosis type 1, (12-14) type 2, (15) and type 6.
Light microscopic study revealed that a metachromatic
matrix was produced in all the BIO-treated chondrogenic cultures as well as the control.