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 J. Risch; Alan J. Buckler; James F. Gusella; Xandra O. Breakefield

doi:10.1038/ng0997-40

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 J. Risch, Alan J. Buckler, James F. Gusella, Xandra O. Breakefield

Neurology

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

927 Scopus citations

Abstract

Early-onset torsion dystonia is a movement disorder, characterized by twisting muscle contractures, that begins in childhood. Symptoms are believed to result from altered neuronal communication in the basal ganglia. This study identifies the DYT1 gene on human chromosome 9q34 as being responsible for this dominant disease. Almost all cases of early-onset dystonia have a unique 3-bp deletion that appears to have arisen independently in different ethnic populations. This deletion results in loss of one of a pair of glutamic-acid residues in a conserved region of a novel ATP-binding protein, termed torsinA. This protein has homologues in nematode, rat, mouse and humans, with some resemblance to the family of heat-shock proteins and Clp proteases.

Original language	English (US)
Pages (from-to)	40-48
Number of pages	9
Journal	Nature genetics
Volume	17
Issue number	1
DOIs	https://doi.org/10.1038/ng0997-40
State	Published - 1997

ASJC Scopus subject areas

Genetics

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title = "The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein",

abstract = "Early-onset torsion dystonia is a movement disorder, characterized by twisting muscle contractures, that begins in childhood. Symptoms are believed to result from altered neuronal communication in the basal ganglia. This study identifies the DYT1 gene on human chromosome 9q34 as being responsible for this dominant disease. Almost all cases of early-onset dystonia have a unique 3-bp deletion that appears to have arisen independently in different ethnic populations. This deletion results in loss of one of a pair of glutamic-acid residues in a conserved region of a novel ATP-binding protein, termed torsinA. This protein has homologues in nematode, rat, mouse and humans, with some resemblance to the family of heat-shock proteins and Clp proteases.",

author = "Ozelius, {Laurie J.} and Hewett, {Jeffrey W.} and Page, {Curtis E.} and Bressman, {Susan B.} and Kramer, {Patricia L.} and Christo Shalish and {De Leon}, Deborah and Brin, {Mitchell F.} and Deborah Raymond and Corey, {David P.} and Stanley Fahn and Risch, {Neil J.} and Buckler, {Alan J.} and Gusella, {James F.} and Breakefield, {Xandra O.}",

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AU - Ozelius, Laurie J.

AU - Hewett, Jeffrey W.

AU - Page, Curtis E.

AU - Bressman, Susan B.

AU - Kramer, Patricia L.

AU - Shalish, Christo

AU - De Leon, Deborah

AU - Brin, Mitchell F.

AU - Raymond, Deborah

AU - Corey, David P.

AU - Fahn, Stanley

AU - Risch, Neil J.

AU - Buckler, Alan J.

AU - Gusella, James F.

AU - Breakefield, Xandra O.

PY - 1997

Y1 - 1997

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AB - Early-onset torsion dystonia is a movement disorder, characterized by twisting muscle contractures, that begins in childhood. Symptoms are believed to result from altered neuronal communication in the basal ganglia. This study identifies the DYT1 gene on human chromosome 9q34 as being responsible for this dominant disease. Almost all cases of early-onset dystonia have a unique 3-bp deletion that appears to have arisen independently in different ethnic populations. This deletion results in loss of one of a pair of glutamic-acid residues in a conserved region of a novel ATP-binding protein, termed torsinA. This protein has homologues in nematode, rat, mouse and humans, with some resemblance to the family of heat-shock proteins and Clp proteases.

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The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein

Abstract

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