Neuropsychological deficits in obligatory heterozygotes for metachromatic leukodystrophy.
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.
Kohn
H
H
Department of Psychiatry, University of Medicine and Dentistry of New Jersey-Robert Wood Johnson Medical School, Piscataway 08854.
Manowitz
P
P
Miller
M
M
Kling
A
A
D004569:Electroencephalography; D006579:Heterozygote; D006801:Humans; D007807:Language Tests; D007966:Leukodystrophy, Metachromatic / Q000235:genetics* / Q000523:psychology; D009483:Neuropsychological Tests; D013661:Tay-Sachs Disease / Q000235:genetics / Q000523:psychology