Journal ArticleDOI
The torsion dystonias: literature review and genetic and clinical studies.
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This article is published in Neurology.The article was published on 1970-11-01. It has received 169 citations till now. The article focuses on the topics: Idiopathic Torsion Dystonia.read more
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Journal ArticleDOI
The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein
Laurie J. Ozelius,Jeffrey W. Hewett,Curtis E. Page,Susan B. Bressman,Patricia L. Kramer,Christo Shalish,Deborah de Leon,Mitchell F. Brin,Deborah Raymond,David P. Corey,Stanley Fahn,Neil Risch,Alan Buckler,James F. Gusella,Xandra O. Breakefield +14 more
TL;DR: The DYT1 gene on human chromosome 9q34 is identified as being responsible for early-onset torsion dystonia, a movement disorder, characterized by twisting muscle contractures, that begins in childhood.
Journal ArticleDOI
Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population.
Neil Risch,Neil Risch,Deborah de Leon,Laurie J. Ozelius,Patricia L. Kramer,Laura Almasy,Burton H. Singer,Stanley Fahn,Xandra O. Breakefield,Susan B. Bressman +9 more
TL;DR: The recent origin of this dominant mutation and its current high frequency suggest that the Ashkenazi population descends from a limited group of founders, and emphasize the importance of genetic drift in determining disease allele frequencies in this population.
Journal ArticleDOI
Tardive dystonia Late‐onset and persistent dystonia caused by antipsychotic drugs
Robert E. Burke,Stanley Fahn,Joseph Jankovic,C. D. Marsden,Anthony E. Lang,Stephen Gollomp,Joyce Ilson +6 more
TL;DR: This dystonia is to be distinguished from acute dystonic reactions, which are transient, and from classic tardive dyskinesia, which is a choreic disorder that predominantly affects the oral region.
Journal ArticleDOI
Hemidystonia: a report of 22 patients and a review of the literature.
L. C. Pettigrew,Joseph Jankovic +1 more
TL;DR: Hemidystonia may result from a disconnection between the striatum and the thalamus with relative preservation of the corticospinal pathways in patients with perinatal trauma or childhood injury.
Journal ArticleDOI
Human gene for torsion dystonia located on chromosome 9q32-q34.
Laurie J. Ozelius,Patricia L. Kramer,Carol Moskowitz,David J. Kwiatkowski,Mitchell F. Brin,Susan B. Bressman,Deborah E. Schuback,Catherine T. Falk,Neil Risch,Deborah de Leon,Robert E. Burke,Jonathan L. Haines,James F. Gusella,Stanley Fahn,Xandra O. Breakefield +14 more
TL;DR: This dystonia gene (ITD1) shows tight linkage with the gene encoding gelsolin, an actin binding protein, and appears by multipoint linkage analysis to lie in the q32-q34 region of chromosome 9 between ABO and D9S26, a region that also contains the locus for dopamine-beta-hydroxylase.
Related Papers (5)
Idiopathic torsion dystonia (dystonia musculorum deformans). A review of forty-two patients.
C. D. Marsden,M. J. G. Harrison +1 more