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Huntington's disease: biochemical prediction by determination of GABA synthesis of cultured fibroblasts

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Summary

GABA synthesis in skin fibroblasts from patients with Huntington's chorea was compared with that in a control group by means of the highly specific 3H-muscimol radioreceptor assay. A significantly increased rate of GABA synthesis was found in the group with Huntington's chorea in an early cell passage. The possible use of this method for early diagnosis of Huntington's chorea is considered.

Zusammenfassung

Die GABA-Synthese in Hautifbroblasten von Chorea Huntington-Patienten im Vergleich zu einer gesunden Kontrollgruppe wurde mittels des hochspezifischen 3H-Muscimol-Radiorezeptoren-Assays untersucht. Wir fanden eine signifikante 8fache Erhöhung der GABA-Synthese bei Chorea Huntington in einer frühen Zellpassage. Es wird erwogen, diese Methode zur Frühdiagnostik von Chorea Huntington einzusetzen.

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Göhlich, G., Kuhn, W., Höhn, H. et al. Huntington's disease: biochemical prediction by determination of GABA synthesis of cultured fibroblasts. J Neurol 231, 50–51 (1984). https://doi.org/10.1007/BF00313653

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  • DOI: https://doi.org/10.1007/BF00313653

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