Biochemical, Psychometric, and Neuropsychological Studies in Heterozygotes for Various Lipidoses. Preliminary Results

Overview

Journal Hum Genet

Specialty Genetics

Date 1980 Jan 1

PMID 6108913

Citations 13

Authors

H Christomanou

J Martinius

S Jaffe

K Betke

C Forster

Affiliations

Soon will be listed here.

Abstract

A sample of 38 clinically unaffected carriers for various lipidoses and their noncarrier relatives was studied with biochemical, psychological, and neuropsychological tests under blind conditions. The largest group of carriers was that for metachromatic leucodystrophy (MLD). The mean activity of arylsulphatase A or cerebroside sulphatase in the obligate carriers was 25%-30% of the control values, some heterozygotes showing little more activity than MLD patients. It was found that compared with the controls all heterozygotes (both obligate and facultative) differ unfavourably in some personality traits and in WISA subtests, including capacity for spatial cognition. These differences are especially obvious in a group of seven MLD carriers from the same family. With respect to reaction times, performance was significantly slower in MLD carriers, and particularly in those with enzyme activity lower than 30% of the control values.

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