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 complication. The hand dystonia caused by DYT1 mutation may be successfully managed by thalamotomy.
Kim
Mi J
MJ
Department of Neurology, Center for Parkinsonism and Other Movement Disorders, University of Ulsan College of Medicine, Seoul, South Korea.
Jeon
Sang R
SR
Yoo
Han-Wook
HW
Kim
Gu-Hwan
GH
Lee
Myoung C
MC
Chung
Sun J
SJ
D000293:Adolescent; D000328:Adult; D000368:Aged; D004252:DNA Mutational Analysis / Q000379:methods; D020821:Dystonic Disorders / Q000235:genetics / Q000473:pathology / Q000601:surgery; D005192:Family Health; D006225:Hand / Q000503:physiopathology*; D006801:Humans; D008137:Longitudinal Studies; D008297:Male; D008875:Middle Aged; D018832:Molecular Chaperones / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D011612:Psychosurgery / Q000379:methods*; D013788:Thalamus / Q000601:surgery*
D018832:Molecular Chaperones; C108175:TOR1A protein, human