Phenotypic consequences of low arylsulfatase A genotypes (ASAp/ASAp and ASA-/ASAp): does there exist an association...

Arylsulfatase A (ASA) pseudodeficiency does per definitionem not lead to metachromatic leukodystrophy. It is conceivable, however, that it may contribute to the susceptibility for more common, multifactorial disorders of the nervous system. In order to examine whether there is an association with multiple sclerosis (MS), the most common demyelinating disease, we screened 160 MS patients for ASA activity and looked for pseudodeficiency genotypes using polymerase chain reaction. Four homozygotes for the ASA pseudodeficiency allele were found among the MS patients, but only one in the control sample. Further studies are necessary to validate whether ASA pseudodeficiency is associated with MS.