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 showe...

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Veröffentlicht in:	Human genetics 1988-05, Vol.79 (1), p.8-12
Hauptverfasser:	KOHN, H, MANOWITZ, P, MILLER, M, KLING, A
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences Electroencephalography Errors of metabolism Heterozygote Humans Language Tests Leukodystrophy, Metachromatic - genetics Leukodystrophy, Metachromatic - psychology Lipids (lysosomal enzyme disorders, storage diseases) Medical sciences Metabolic diseases Neuropsychological Tests Tay-Sachs Disease - genetics Tay-Sachs Disease - psychology
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Zusammenfassung:	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.
ISSN:	0340-6717 1432-1203
DOI:	10.1007/BF00291701