Idiopathic torsion dystonia linked to chromosome 8 in two mennonite families

被引：120

作者：

Almasy, L

Bressman, SB

Raymond, D

Kramer, PL

Greene, PE

Heiman, GA

Ford, B

Yount, J

deLeon, D

Chouinard, S

SaundersPullman, R

Brin, MF

Kapoor, RP

Jones, AC

Shen, H

Fahn, S

Risch, NJ

Nygaard, TG

机构：

[1] COLUMBIA PRESBYTERIAN MED CTR,DEPT NEUROL,NEW YORK,NY 10032

[2] COLUMBIA PRESBYTERIAN MED CTR,DEPT PSYCHIAT,NEW YORK,NY 10032

[3] SW FDN BIOMED RES,DEPT GENET,SAN ANTONIO,TX

[4] OREGON HLTH SCI UNIV,DEPT NEUROL,PORTLAND,OR 97201

[5] STANFORD UNIV,DEPT GENET,STANFORD,CA 94305

来源：

ANNALS OF NEUROLOGY | 1997年 / 42卷 / 04期

关键词：

D O I：

10.1002/ana.410420421

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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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页码：670 / 673

页数：6

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