Exclusion of the DYT1 locus in familial torticollis

S. B. Bressman; T. T. Warner; L. Almasy; R. J. Uitti; P. E. Greene; G. A. Heiman; D. Raymond; B. Ford; D. De Leon; S. Fahn; P. L. Kramer; N. J. Risch; D. M. Maraganore; T. G. Nygaard; A. E. Harding

doi:10.1002/ana.410400421

Exclusion of the DYT1 locus in familial torticollis

S. B. Bressman, T. T. Warner, L. Almasy, R. J. Uitti, P. E. Greene, G. A. Heiman, D. Raymond, B. Ford, D. De Leon, S. Fahn, P. L. Kramer, N. J. Risch, D. M. Maraganore, T. G. Nygaard, A. E. Harding

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60 Scopus citations

Abstract

Clinical-genetic studies of idiopathic torsion dystonia (ITD) indicate that the DYT1 gene on chromosome 9q34 is responsible for most childhood limb- onset disease. The genetic basis of adult-onset ITD is less well studied. In most multiplex adult-onset ITD families, dystonia is limited to the cervical, cranial, or brachial muscles; in a few rare families, dystonia also involves the legs and trunk. Previous linkage studies have excluded the DYT1 locus in these atypical families. We studied two large non-Jewish families with adult- onset ITD limited to the cervical and brachial muscles and excluded the DYT1- containing region. This study further restricts the role of DYT1 to childhood limb-onset ITD and suggests that other genes are responsible for focal adult- onset ITD.

Original language	English (US)
Pages (from-to)	681-684
Number of pages	4
Journal	Annals of Neurology
Volume	40
Issue number	4
DOIs	https://doi.org/10.1002/ana.410400421
State	Published - Oct 1996
Externally published	Yes

All Science Journal Classification (ASJC) codes

Neurology
Clinical Neurology

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10.1002/ana.410400421

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title = "Exclusion of the DYT1 locus in familial torticollis",

abstract = "Clinical-genetic studies of idiopathic torsion dystonia (ITD) indicate that the DYT1 gene on chromosome 9q34 is responsible for most childhood limb- onset disease. The genetic basis of adult-onset ITD is less well studied. In most multiplex adult-onset ITD families, dystonia is limited to the cervical, cranial, or brachial muscles; in a few rare families, dystonia also involves the legs and trunk. Previous linkage studies have excluded the DYT1 locus in these atypical families. We studied two large non-Jewish families with adult- onset ITD limited to the cervical and brachial muscles and excluded the DYT1- containing region. This study further restricts the role of DYT1 to childhood limb-onset ITD and suggests that other genes are responsible for focal adult- onset ITD.",

author = "Bressman, {S. B.} and Warner, {T. T.} and L. Almasy and Uitti, {R. J.} and Greene, {P. E.} and Heiman, {G. A.} and D. Raymond and B. Ford and {De Leon}, D. and S. Fahn and Kramer, {P. L.} and Risch, {N. J.} and Maraganore, {D. M.} and Nygaard, {T. G.} and Harding, {A. E.}",

year = "1996",

month = oct,

doi = "10.1002/ana.410400421",

language = "English (US)",

volume = "40",

pages = "681--684",

journal = "Annals of Neurology",

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AU - Bressman, S. B.

AU - Warner, T. T.

AU - Almasy, L.

AU - Uitti, R. J.

AU - Greene, P. E.

AU - Heiman, G. A.

AU - Raymond, D.

AU - Ford, B.

AU - De Leon, D.

AU - Fahn, S.

AU - Kramer, P. L.

AU - Risch, N. J.

AU - Maraganore, D. M.

AU - Nygaard, T. G.

AU - Harding, A. E.

PY - 1996/10

Y1 - 1996/10

N2 - Clinical-genetic studies of idiopathic torsion dystonia (ITD) indicate that the DYT1 gene on chromosome 9q34 is responsible for most childhood limb- onset disease. The genetic basis of adult-onset ITD is less well studied. In most multiplex adult-onset ITD families, dystonia is limited to the cervical, cranial, or brachial muscles; in a few rare families, dystonia also involves the legs and trunk. Previous linkage studies have excluded the DYT1 locus in these atypical families. We studied two large non-Jewish families with adult- onset ITD limited to the cervical and brachial muscles and excluded the DYT1- containing region. This study further restricts the role of DYT1 to childhood limb-onset ITD and suggests that other genes are responsible for focal adult- onset ITD.

AB - Clinical-genetic studies of idiopathic torsion dystonia (ITD) indicate that the DYT1 gene on chromosome 9q34 is responsible for most childhood limb- onset disease. The genetic basis of adult-onset ITD is less well studied. In most multiplex adult-onset ITD families, dystonia is limited to the cervical, cranial, or brachial muscles; in a few rare families, dystonia also involves the legs and trunk. Previous linkage studies have excluded the DYT1 locus in these atypical families. We studied two large non-Jewish families with adult- onset ITD limited to the cervical and brachial muscles and excluded the DYT1- containing region. This study further restricts the role of DYT1 to childhood limb-onset ITD and suggests that other genes are responsible for focal adult- onset ITD.

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JO - Annals of Neurology

JF - Annals of Neurology

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ER -

Exclusion of the DYT1 locus in familial torticollis

Abstract

All Science Journal Classification (ASJC) codes

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