The gene for familial dystonia with myoclonic jerks responsive to alcohol is not located on the distal end of 9q

J. Wahlström; L. Ozelius; P. Kramer; M. Kyllerman; D. Schuback; L. Forsgren; G. Holmgren; U. Drugge; G. Sanner; S. Fahn; X. O. Breakefield

doi:10.1111/j.1399-0004.1994.tb04000.x

The gene for familial dystonia with myoclonic jerks responsive to alcohol is not located on the distal end of 9q

J. Wahlström, L. Ozelius, P. Kramer, M. Kyllerman, D. Schuback, L. Forsgren, G. Holmgren, U. Drugge, G. Sanner, S. Fahn, X. O. Breakefield

Neurology

Research output: Contribution to journal › Article › peer-review

14 Scopus citations

Abstract

A gene (DYT1) for susceptibility to early‐onset torsion dystonia in Ashkenazi Jewish and Gentile kindreds is situated on chromosome 9q32‐q34 in a 6–7 cM span between markers AK1 and ASS. To determine whether transmission of familial dystonia with myoclonic jerks responsive to alcohol was consistent with a gene in this region, we studied the 37 members of a Swedish family, of whom 20 were so affected. A lod score of < −2.00 from a two‐point linkage analysis with six DNA markers covering a 30 cM span from D9S26 to D9S10 that included the region of the DYT gene indicated that this gene is not located in this region, and that two or more autosomal loci are responsible for hereditary dystonia in humans.

Original language	English (US)
Pages (from-to)	88-92
Number of pages	5
Journal	Clinical Genetics
Volume	45
Issue number	2
DOIs	https://doi.org/10.1111/j.1399-0004.1994.tb04000.x
State	Published - Feb 1994

Keywords

chromosome 9
linkage analysis
torsion dystonia

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1111/j.1399-0004.1994.tb04000.x

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title = "The gene for familial dystonia with myoclonic jerks responsive to alcohol is not located on the distal end of 9q",

abstract = "A gene (DYT1) for susceptibility to early‐onset torsion dystonia in Ashkenazi Jewish and Gentile kindreds is situated on chromosome 9q32‐q34 in a 6–7 cM span between markers AK1 and ASS. To determine whether transmission of familial dystonia with myoclonic jerks responsive to alcohol was consistent with a gene in this region, we studied the 37 members of a Swedish family, of whom 20 were so affected. A lod score of < −2.00 from a two‐point linkage analysis with six DNA markers covering a 30 cM span from D9S26 to D9S10 that included the region of the DYT gene indicated that this gene is not located in this region, and that two or more autosomal loci are responsible for hereditary dystonia in humans.",

keywords = "chromosome 9, linkage analysis, torsion dystonia",

author = "J. Wahlstr{\"o}m and L. Ozelius and P. Kramer and M. Kyllerman and D. Schuback and L. Forsgren and G. Holmgren and U. Drugge and G. Sanner and S. Fahn and Breakefield, {X. O.}",

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doi = "10.1111/j.1399-0004.1994.tb04000.x",

language = "English (US)",

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T1 - The gene for familial dystonia with myoclonic jerks responsive to alcohol is not located on the distal end of 9q

AU - Wahlström, J.

AU - Ozelius, L.

AU - Kramer, P.

AU - Kyllerman, M.

AU - Schuback, D.

AU - Forsgren, L.

AU - Holmgren, G.

AU - Drugge, U.

AU - Sanner, G.

AU - Fahn, S.

AU - Breakefield, X. O.

PY - 1994/2

Y1 - 1994/2

N2 - A gene (DYT1) for susceptibility to early‐onset torsion dystonia in Ashkenazi Jewish and Gentile kindreds is situated on chromosome 9q32‐q34 in a 6–7 cM span between markers AK1 and ASS. To determine whether transmission of familial dystonia with myoclonic jerks responsive to alcohol was consistent with a gene in this region, we studied the 37 members of a Swedish family, of whom 20 were so affected. A lod score of < −2.00 from a two‐point linkage analysis with six DNA markers covering a 30 cM span from D9S26 to D9S10 that included the region of the DYT gene indicated that this gene is not located in this region, and that two or more autosomal loci are responsible for hereditary dystonia in humans.

AB - A gene (DYT1) for susceptibility to early‐onset torsion dystonia in Ashkenazi Jewish and Gentile kindreds is situated on chromosome 9q32‐q34 in a 6–7 cM span between markers AK1 and ASS. To determine whether transmission of familial dystonia with myoclonic jerks responsive to alcohol was consistent with a gene in this region, we studied the 37 members of a Swedish family, of whom 20 were so affected. A lod score of < −2.00 from a two‐point linkage analysis with six DNA markers covering a 30 cM span from D9S26 to D9S10 that included the region of the DYT gene indicated that this gene is not located in this region, and that two or more autosomal loci are responsible for hereditary dystonia in humans.

KW - chromosome 9

KW - linkage analysis

KW - torsion dystonia

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The gene for familial dystonia with myoclonic jerks responsive to alcohol is not located on the distal end of 9q

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

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