Dopamine beta-hydroxylase gene excluded in four subtypes of hereditary dystonia

Deborah Schuback, Patricia Kramer, Laurie Ozelius, Gösta Holmgren, Lars Forsgren, Marten Kyllerman, Jan Wahlström, Cheryl M. Craft, Torbjoern Nygaard, Mitchell Brin, Deborah de Leon, Susan Bressman, Carol B. Moskowitz, Robert E. Burke, G. Sanner, U. Drugge, James F. Gusella, Stanley Fahn, Xandra O. Breakefield

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6 Scopus citations

Abstract

The hereditary dystonias include a clinically heterogeneous group of movement disorders varying in symptoms, age of onset, and drug responsiveness. Dopamine beta-hydroxylase (DBH), the enzyme that converts dopamine to norepinephrine, has been implicated in dystonia because of increased serum levels of DBH in some patients, the influence of catecholaminergic drugs on the human phenotypes, and altered norepinephrine levels in several brain regions in dystonia patients and in genetically dystonic rodents. In addition, markers linked to the dystonia gene in two ethnic groups map close to the DBH locus on human chromosome 9q34. Here we evaluate the inheritance of restriction fragment length polymorphisms near the DBH gene in families with four subtypes of hereditary dystonia: Jewish and non-Jewish, early onset, generalized idiopathic torsion dystonia (ITD); dopa-responsive dystonia; and myoclonic dystonia. In all families, obligate recombination events were observed between the DBH and dystonia genes, thus excluding the DBH gene as the primary defect.

Original languageEnglish (US)
Pages (from-to)311-316
Number of pages6
JournalHuman genetics
Volume87
Issue number3
DOIs
StatePublished - Jul 1 1991

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ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Schuback, D., Kramer, P., Ozelius, L., Holmgren, G., Forsgren, L., Kyllerman, M., Wahlström, J., Craft, C. M., Nygaard, T., Brin, M., de Leon, D., Bressman, S., Moskowitz, C. B., Burke, R. E., Sanner, G., Drugge, U., Gusella, J. F., Fahn, S., & Breakefield, X. O. (1991). Dopamine beta-hydroxylase gene excluded in four subtypes of hereditary dystonia. Human genetics, 87(3), 311-316. https://doi.org/10.1007/BF00200910