Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families

L. Almasy; S. B. Bressman; D. Raymond; P. L. Kramer; P. E. Greene; G. A. Heiman; B. Ford; J. Yount; D. De Leon; S. Chouinard; R. Saunders-Pullman; M. F. Brin; R. P. Kapoor; A. C. Jones; H. Shen; S. Fahn; N. J. Risch; T. G. Nygaard

doi:10.1002/ana.410420421

Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families

L. Almasy, S. B. Bressman, D. Raymond, P. L. Kramer, P. E. Greene, G. A. Heiman, B. Ford, J. Yount, D. De Leon, S. Chouinard, R. Saunders-Pullman, M. F. Brin, R. P. Kapoor, A. C. Jones, H. Shen, S. Fahn, N. J. Risch, T. G. Nygaard

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

169 Scopus citations

Abstract

The DYT1 locus on chromosome 9q34 is responsible for most childhood limb-onset idiopathic torsion dystonia (ITD). Linkage to DYT1 has been excluded in families with adult-onset, and predominantly cranial-cervical, ITD. We mapped a locus (DYT6) associated with prominent cranial-cervical ITD in two large Mennonite families to chromosome 8. An identical haplotype spanning 40-cM segregates with ITD in these families, suggesting a shared mutation from the recent past.

Original language	English (US)
Pages (from-to)	670-673
Number of pages	4
Journal	Annals of Neurology
Volume	42
Issue number	4
DOIs	https://doi.org/10.1002/ana.410420421
State	Published - Oct 1997
Externally published	Yes

All Science Journal Classification (ASJC) codes

Neurology
Clinical Neurology

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Almasy, L., Bressman, S. B., Raymond, D., Kramer, P. L., Greene, P. E., Heiman, G. A., Ford, B., Yount, J., De Leon, D., Chouinard, S., Saunders-Pullman, R., Brin, M. F., Kapoor, R. P., Jones, A. C., Shen, H., Fahn, S., Risch, N. J., & Nygaard, T. G. (1997). Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families. Annals of Neurology, 42(4), 670-673. https://doi.org/10.1002/ana.410420421

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title = "Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families",

abstract = "The DYT1 locus on chromosome 9q34 is responsible for most childhood limb-onset idiopathic torsion dystonia (ITD). Linkage to DYT1 has been excluded in families with adult-onset, and predominantly cranial-cervical, ITD. We mapped a locus (DYT6) associated with prominent cranial-cervical ITD in two large Mennonite families to chromosome 8. An identical haplotype spanning 40-cM segregates with ITD in these families, suggesting a shared mutation from the recent past.",

author = "L. Almasy and Bressman, {S. B.} and D. Raymond and Kramer, {P. L.} and Greene, {P. E.} and Heiman, {G. A.} and B. Ford and J. Yount and {De Leon}, D. and S. Chouinard and R. Saunders-Pullman and Brin, {M. F.} and Kapoor, {R. P.} and Jones, {A. C.} and H. Shen and S. Fahn and Risch, {N. J.} and Nygaard, {T. G.}",

year = "1997",

month = oct,

doi = "10.1002/ana.410420421",

language = "English (US)",

volume = "42",

pages = "670--673",

journal = "Annals of Neurology",

issn = "0364-5134",

publisher = "John Wiley and Sons Inc.",

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Almasy, L, Bressman, SB, Raymond, D, Kramer, PL, Greene, PE, Heiman, GA, Ford, B, Yount, J, De Leon, D, Chouinard, S, Saunders-Pullman, R, Brin, MF, Kapoor, RP, Jones, AC, Shen, H, Fahn, S, Risch, NJ & Nygaard, TG 1997, 'Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families', Annals of Neurology, vol. 42, no. 4, pp. 670-673. https://doi.org/10.1002/ana.410420421

TY - JOUR

T1 - Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families

AU - Almasy, L.

AU - Bressman, S. B.

AU - Raymond, D.

AU - Kramer, P. L.

AU - Greene, P. E.

AU - Heiman, G. A.

AU - Ford, B.

AU - Yount, J.

AU - De Leon, D.

AU - Chouinard, S.

AU - Saunders-Pullman, R.

AU - Brin, M. F.

AU - Kapoor, R. P.

AU - Jones, A. C.

AU - Shen, H.

AU - Fahn, S.

AU - Risch, N. J.

AU - Nygaard, T. G.

PY - 1997/10

Y1 - 1997/10

N2 - The DYT1 locus on chromosome 9q34 is responsible for most childhood limb-onset idiopathic torsion dystonia (ITD). Linkage to DYT1 has been excluded in families with adult-onset, and predominantly cranial-cervical, ITD. We mapped a locus (DYT6) associated with prominent cranial-cervical ITD in two large Mennonite families to chromosome 8. An identical haplotype spanning 40-cM segregates with ITD in these families, suggesting a shared mutation from the recent past.

AB - The DYT1 locus on chromosome 9q34 is responsible for most childhood limb-onset idiopathic torsion dystonia (ITD). Linkage to DYT1 has been excluded in families with adult-onset, and predominantly cranial-cervical, ITD. We mapped a locus (DYT6) associated with prominent cranial-cervical ITD in two large Mennonite families to chromosome 8. An identical haplotype spanning 40-cM segregates with ITD in these families, suggesting a shared mutation from the recent past.

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M3 - Article

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AN - SCOPUS:0030868892

SN - 0364-5134

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SP - 670

EP - 673

JO - Annals of Neurology

JF - Annals of Neurology

IS - 4

ER -

Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families

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