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Comparative Study
. 1988 May;79(1):8-12.
doi: 10.1007/BF00291701.

Neuropsychological deficits in obligatory heterozygotes for metachromatic leukodystrophy

H Kohn  1 , P Manowitz, M Miller, A Kling
Affiliations
Comparative Study

Neuropsychological deficits in obligatory heterozygotes for metachromatic leukodystrophy

H Kohn et al. Hum Genet. 1988 May.

Abstract

Two groups of heterozygotes, one for metachromatic leukodystrophy (MLD) and the other for Tay-Sachs disease, were given a battery of neuropsychological tests, a standard neurological examination, and an EEG. Neurological and EEG findings were unremarkable for both groups. The MLD heterozygotes showed deficits in the neuropsychological tests involving spatial or constructional components, but not in tests involving language skills. The Tay-Sachs heterozygotes showed no consistent deficit on any component of the neuropsychological tests.

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