TY - JOUR
T1 - Adult onset idiopathic torsion dystonia is excluded from the DYT 1 region (9q34) in a Swedish family
AU - Holmgren, Gösta
AU - Ozelius, Laurie
AU - Forsgren, Lars
AU - Almay, Bela G.L.
AU - Holmberg, Monica
AU - Kramer, Patricia
AU - Fahn, Stanley
AU - Breakefield, Xandra O.
PY - 1995
Y1 - 1995
N2 - A gene (DYTI) for early onset idiopathic torsion dystonia was mapped to chromosome 9q34 in non-Jewish and Jewish families. The DYTI gene region has been excluded in other families with adult onset and cervical or cranial onset idiopathic torsion dystonia from the United States, Great Britain, and France. The role of DYTI in a Swedish family with adult onset idiopathic torsion dystonia in four generations was examined. The disease seems to be inherited in an autosomal dominant mode with reduced penetrance in this family. There were 10 affected family members, with a mean age of onset of 27 (range 18 to 50) years. The disease showed variable expression, with focal, multifocal, and generalized forms of dystonia in different family members. Genetic analysis excluded the chromosomal region containing the DYTI locus as being responsible for dystonia in this family.
AB - A gene (DYTI) for early onset idiopathic torsion dystonia was mapped to chromosome 9q34 in non-Jewish and Jewish families. The DYTI gene region has been excluded in other families with adult onset and cervical or cranial onset idiopathic torsion dystonia from the United States, Great Britain, and France. The role of DYTI in a Swedish family with adult onset idiopathic torsion dystonia in four generations was examined. The disease seems to be inherited in an autosomal dominant mode with reduced penetrance in this family. There were 10 affected family members, with a mean age of onset of 27 (range 18 to 50) years. The disease showed variable expression, with focal, multifocal, and generalized forms of dystonia in different family members. Genetic analysis excluded the chromosomal region containing the DYTI locus as being responsible for dystonia in this family.
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U2 - 10.1136/jnnp.59.2.178
DO - 10.1136/jnnp.59.2.178
M3 - Article
C2 - 7629534
AN - SCOPUS:0029133628
VL - 59
SP - 178
EP - 181
JO - Journal of Neurology, Neurosurgery and Psychiatry
JF - Journal of Neurology, Neurosurgery and Psychiatry
SN - 0022-3050
IS - 2
ER -