Effect of thalamotomy on focal hand dystonia in a family with DYT1 mutation

Mi J Kim; Sang R Jeon; Han-Wook Yoo; Gu-Hwan Kim; Myoung C Lee; Sun J Chung

doi:10.1002/mds.22337

Effect of thalamotomy on focal hand dystonia in a family with DYT1 mutation

Mov Disord. 2008 Nov 15;23(15):2251-5. doi: 10.1002/mds.22337.

Authors

Mi J Kim¹, Sang R Jeon, Han-Wook Yoo, Gu-Hwan Kim, Myoung C Lee, Sun J Chung

Affiliation

¹ Department of Neurology, Center for Parkinsonism and Other Movement Disorders, University of Ulsan College of Medicine, Seoul, South Korea.

PMID: 18823049
DOI: 10.1002/mds.22337

Abstract

We report the clinical and molecular features of a family with focal hand dystonia caused by DYT1 mutation. Four members of a family who underwent thalamotomy showed a marked and sustained therapeutic benefit that lasted for up to 12 years without recurrence of dystonia or any significant surgical complication. The hand dystonia caused by DYT1 mutation may be successfully managed by thalamotomy.

Publication types

Clinical Trial
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Adult
Aged
DNA Mutational Analysis / methods
Dystonic Disorders* / genetics
Dystonic Disorders* / pathology
Dystonic Disorders* / surgery
Family Health*
Hand / physiopathology*
Humans
Longitudinal Studies
Male
Middle Aged
Molecular Chaperones / genetics*
Mutation / genetics*
Psychosurgery / methods*
Thalamus / surgery*

Substances

Molecular Chaperones
TOR1A protein, human