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

Research output: Contribution to journalArticle

6 Citations (Scopus)

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 1991

Fingerprint

Dystonic Disorders
Dopamine beta-Hydroxylase
Dystonia
Genes
Norepinephrine
Dystonia Musculorum Deformans
Movement Disorders
Human Chromosomes
Age of Onset
Ethnic Groups
Restriction Fragment Length Polymorphisms
Pharmaceutical Preparations
Genetic Recombination
Rodentia
Dopamine
Phenotype
Brain
Enzymes
Serum

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Schuback, D., Kramer, P., Ozelius, L., Holmgren, G., Forsgren, L., Kyllerman, M., ... 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

Dopamine beta-hydroxylase gene excluded in four subtypes of hereditary dystonia. / Schuback, Deborah; Kramer, Patricia; Ozelius, Laurie; Holmgren, Gösta; Forsgren, Lars; Kyllerman, Marten; Wahlström, Jan; Craft, Cheryl M.; Nygaard, Torbjoern; Brin, Mitchell; de Leon, Deborah; Bressman, Susan; Moskowitz, Carol B.; Burke, Robert E.; Sanner, G.; Drugge, U.; Gusella, James F.; Fahn, Stanley; Breakefield, Xandra O.

In: Human Genetics, Vol. 87, No. 3, 07.1991, p. 311-316.

Research output: Contribution to journalArticle

Schuback, D, Kramer, P, Ozelius, L, Holmgren, G, Forsgren, L, Kyllerman, M, Wahlström, J, Craft, CM, Nygaard, T, Brin, M, de Leon, D, Bressman, S, Moskowitz, CB, Burke, RE, Sanner, G, Drugge, U, Gusella, JF, Fahn, S & Breakefield, XO 1991, 'Dopamine beta-hydroxylase gene excluded in four subtypes of hereditary dystonia', Human Genetics, vol. 87, no. 3, pp. 311-316. https://doi.org/10.1007/BF00200910
Schuback D, Kramer P, Ozelius L, Holmgren G, Forsgren L, Kyllerman M et al. Dopamine beta-hydroxylase gene excluded in four subtypes of hereditary dystonia. Human Genetics. 1991 Jul;87(3):311-316. https://doi.org/10.1007/BF00200910
Schuback, Deborah ; Kramer, Patricia ; Ozelius, Laurie ; Holmgren, Gösta ; Forsgren, Lars ; Kyllerman, Marten ; Wahlström, Jan ; Craft, Cheryl M. ; Nygaard, Torbjoern ; Brin, Mitchell ; de Leon, Deborah ; Bressman, Susan ; Moskowitz, Carol B. ; Burke, Robert E. ; Sanner, G. ; Drugge, U. ; Gusella, James F. ; Fahn, Stanley ; Breakefield, Xandra O. / Dopamine beta-hydroxylase gene excluded in four subtypes of hereditary dystonia. In: Human Genetics. 1991 ; Vol. 87, No. 3. pp. 311-316.
@article{a834d2b001774330bd79125c79053543,
title = "Dopamine beta-hydroxylase gene excluded in four subtypes of hereditary dystonia",
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.",
author = "Deborah Schuback and Patricia Kramer and Laurie Ozelius and G{\"o}sta Holmgren and Lars Forsgren and Marten Kyllerman and Jan Wahlstr{\"o}m and Craft, {Cheryl M.} and Torbjoern Nygaard and Mitchell Brin and {de Leon}, Deborah and Susan Bressman and Moskowitz, {Carol B.} and Burke, {Robert E.} and G. Sanner and U. Drugge and Gusella, {James F.} and Stanley Fahn and Breakefield, {Xandra O.}",
year = "1991",
month = "7",
doi = "10.1007/BF00200910",
language = "English (US)",
volume = "87",
pages = "311--316",
journal = "Human Genetics",
issn = "0340-6717",
publisher = "Springer Verlag",
number = "3",

}

TY - JOUR

T1 - Dopamine beta-hydroxylase gene excluded in four subtypes of hereditary dystonia

AU - Schuback, Deborah

AU - Kramer, Patricia

AU - Ozelius, Laurie

AU - Holmgren, Gösta

AU - Forsgren, Lars

AU - Kyllerman, Marten

AU - Wahlström, Jan

AU - Craft, Cheryl M.

AU - Nygaard, Torbjoern

AU - Brin, Mitchell

AU - de Leon, Deborah

AU - Bressman, Susan

AU - Moskowitz, Carol B.

AU - Burke, Robert E.

AU - Sanner, G.

AU - Drugge, U.

AU - Gusella, James F.

AU - Fahn, Stanley

AU - Breakefield, Xandra O.

PY - 1991/7

Y1 - 1991/7

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=0025815692&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0025815692&partnerID=8YFLogxK

U2 - 10.1007/BF00200910

DO - 10.1007/BF00200910

M3 - Article

VL - 87

SP - 311

EP - 316

JO - Human Genetics

JF - Human Genetics

SN - 0340-6717

IS - 3

ER -