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

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 c...

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Bibliographic Details
Published in:Movement disorders 2008-11, Vol.23 (15), p.2251-2255
Main Authors: Kim, Mi J., Jeon, Sang R., Yoo, Han-Wook, Kim, Gu-Hwan, Lee, Myoung C., Chung, Sun J.
Format: Article
Language:English
Subjects:
Adolescent
Adult
Aged
Biological and medical sciences
Diseases of striated muscles. Neuromuscular diseases
DNA Mutational Analysis - methods
dystonia
Dystonic Disorders - genetics
Dystonic Disorders - pathology
Dystonic Disorders - surgery
DYT1
Family Health
Hand - physiopathology
Humans
Longitudinal Studies
Male
Medical sciences
Middle Aged
Molecular Chaperones - genetics
Mutation - genetics
Neurology
Psychosurgery - methods
thalamotomy
Thalamus - surgery
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Summary: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. © 2008 Movement Disorder Society
ISSN:0885-3185
1531-8257
DOI:10.1002/mds.22337