Prevalence of partial cerebroside sulfate sulfatase (Arylsulfatase A) defect in adult psychiatric patients

Arylsulfatase A (ASA) defect and psychiatric illness

“…There are a number of differences in the two assay systems, e.g., the sonication vs. the freeze thaw method used for solubilization. Although the mean values for ASA activity reported by Bach's group (Herz and Bach, 1984;Herska et al, 1987), Propping's group (1987) and that of Hoes et al (1988) are in close agreement, the values are one-half to one-third of those observed by us (Shah et al, 1985), and one-tenth of the values reported by Manowitz et al (1981). It should be noted that Bach's group assayed ASA activity in lymphocytes, rather than leukocyte preparations used by the other four groups.…”

“…The objective of the study was, again, to determine the presence of the biochemical abnormalities of MLD and its carrier condition. Using both assay systems for determining ASA activity, ASA-NCS activity in urine and leukocytes, ASA-CS activity in leukocytes and sulfatides in urine, were estimated in 145 patients and 30 normal subjects (Shah et al, 1985). This study did not reveal an increase in sulfatide excretion in either the normal or psychiatric subjects.…”

“…Their assay system used as a "solubilized" enzyme source, a leukocyte fraction that was prepared by a procedure involving freeze thaw, sedimentation, and dialysis against 0.25M sucrose, 0.005M sodium acetate acetic acid buffer, pH 5.0. Our assay system (Shah et al, 1985) employed the solubilized enzyme source obtained by sonication, sedimentation, and dialysis against distilled water. The mean enzyme activity in our subjects, however, was only one-third to one-fifth of that reported by Manowitz et al (1981).…”

Arylsulfatase A pseudodeficiency-associated mutations: Population studies and identification of a novel haplotype

“…Identification of additional persons with the polyadenylation signal site mutation in the absence of the N-glycosylation site pseudodeficiency mutation of ARSA will serve to clarify this. The manifestation of early psychiatric problems prior to onset of MLD in adult patients gave rise to the hypothesis that reduced ARSA activity without MLD may predispose persons to psychiatric disorders [Shah et al, 1985;Propping et al, 1986;Hohenschutz et al, 1988Hohenschutz et al, , 1989Penzien et al, 1993;Park et al, 19961. We found large variations in the frequencies of pseudodeficiency mutations, e.g., the rates in the Finnish Caucasian population were very different from those in the U.S. Caucasian, Cheyenne Indian, or African populations.…”

The relationship of the metachromatic leukodystrophies to neuropsychiatric disorders

“…Two were completely free of clinically detectable neurological disease, and one was responsive to neuroleptic therapy. In a follow-up study, Shah et al (1985) examined ARS-A and cerebroside sulfate sulfatase in a larger population of patients from the same institution. All had unremitting psychiatric illness.…”