Myoclonus and tremor response to thalamic deep brain stimulation parameters in a patient with inherited myoclonus–dystonia syndrome

Abstract We present a 74-year-old woman with inherited myoclonus–dystonia, with predominant myoclonus and a novel mutation in the ε-sarcoglycan gene. The patient reports a life-long history of rapid, jerking movements, most severe in the upper extremities as well as a postural and action tremor. Bil...

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Bibliographic Details
Published in:Clinical neurology and neurosurgery 2009-04, Vol.111 (3), p.303-306
Main Authors: Kuncel, Alexis M, Turner, Dennis A, Ozelius, Laurie J, Greene, Paul E, Grill, Warren M, Stacy, Mark A
Format: Article
Language:English
Subjects:
Aged
Biological and medical sciences
Deep Brain Stimulation - methods
Dystonia - genetics
Dystonia - physiopathology
Dystonia - therapy
Epsilon-sarcoglycan gene
Female
Genotype & phenotype
Humans
Medical sciences
Movement disorders
Mutation
Myoclonus - genetics
Myoclonus - physiopathology
Myoclonus - therapy
Neurology
Neurosurgery
Parkinson's disease
Sarcoglycans - genetics
Siblings
Stimulation amplitude
Stimulation frequency
Surgery (general aspects). Transplantations, organ and tissue grafts. Graft diseases
Syndrome
Thalamus
Thalamus - physiopathology
Thalamus - surgery
Treatment Outcome
Tremor - physiopathology
Tremor - therapy
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Summary:Abstract We present a 74-year-old woman with inherited myoclonus–dystonia, with predominant myoclonus and a novel mutation in the ε-sarcoglycan gene. The patient reports a life-long history of rapid, jerking movements, most severe in the upper extremities as well as a postural and action tremor. Bilateral deep brain stimulation (DBS) of the ventral intermediate nucleus of the thalamus was performed, and the patient demonstrated moderate clinical improvement in myoclonus. We studied the effects on myoclonus and tremor of varying DBS frequency and amplitude. The frequency tuning curve for myoclonus was similar to that of tremor, suggesting similar mechanisms by which DBS alleviates both disorders.
ISSN:0303-8467
1872-6968
DOI:10.1016/j.clineuro.2008.10.015