Clinical and neurophysiological improvement of SGCE myoclonus-dystonia with GPi deep brain stimulation

Monica M. Kurtis; Marta San Luciano; Qiping Yu; Robert R. Goodman; Blair Ford; Deborah Raymond; Seth L. Pullman; Rachel Saunders-Pullman

doi:10.1016/j.clineuro.2009.10.001

Clinical and neurophysiological improvement of SGCE myoclonus-dystonia with GPi deep brain stimulation

Monica M. Kurtis, Marta San Luciano, Qiping Yu, Robert R. Goodman, Blair Ford, Deborah Raymond, Seth L. Pullman, Rachel Saunders-Pullman

Research output: Contribution to journal › Article › peer-review

44 Scopus citations

Abstract

Myoclonus-dystonia (M-D) is characterized by early onset myoclonus and dystonia. It is thought to be subcortical in origin. Response to oral medications may be incomplete, such that deep brain stimulation (DBS) surgery to the globus pallidum interna (GPi) or ventral intermediate thalamic nucleus (VIM) may be considered. The optimal site is not known. The physiology and surgical response for a 63-year-old woman who underwent GPi DBS for M-D with onset at age 2 and related to a mutation in the epsilon-sarcoglycan gene (SGCE) is described. She showed excellent clinical and neurophysiological improvement of both myoclonus and dystonia, suggesting that modulation by DBS is effective even after long disease duration and only partial response to oral medications.

Original language	English
Pages (from-to)	149-152
Number of pages	4
Journal	Clinical Neurology and Neurosurgery
Volume	112
Issue number	2
DOIs	https://doi.org/10.1016/j.clineuro.2009.10.001
State	Published - Feb 2010
Externally published	Yes

Keywords

Deep brain stimulation
Epsilon-sarcoglycan
Myoclonus-dystonia
Neurophysiology
SGCE
Surgery

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10.1016/j.clineuro.2009.10.001

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@article{012f825bf4e04602ab9e323b4cbca582,

title = "Clinical and neurophysiological improvement of SGCE myoclonus-dystonia with GPi deep brain stimulation",

abstract = "Myoclonus-dystonia (M-D) is characterized by early onset myoclonus and dystonia. It is thought to be subcortical in origin. Response to oral medications may be incomplete, such that deep brain stimulation (DBS) surgery to the globus pallidum interna (GPi) or ventral intermediate thalamic nucleus (VIM) may be considered. The optimal site is not known. The physiology and surgical response for a 63-year-old woman who underwent GPi DBS for M-D with onset at age 2 and related to a mutation in the epsilon-sarcoglycan gene (SGCE) is described. She showed excellent clinical and neurophysiological improvement of both myoclonus and dystonia, suggesting that modulation by DBS is effective even after long disease duration and only partial response to oral medications.",

keywords = "Deep brain stimulation, Epsilon-sarcoglycan, Myoclonus-dystonia, Neurophysiology, SGCE, Surgery",

author = "Kurtis, {Monica M.} and {San Luciano}, Marta and Qiping Yu and Goodman, {Robert R.} and Blair Ford and Deborah Raymond and Pullman, {Seth L.} and Rachel Saunders-Pullman",

note = "Funding Information: Funding : This work was supported by NIH NINDS NS04725604 (RSP), the Dystonia Medical Research Foundation (RSP), and the Parkinson's Disease Foundation (SLP, QY). ",

year = "2010",

month = feb,

doi = "10.1016/j.clineuro.2009.10.001",

language = "English",

volume = "112",

pages = "149--152",

journal = "Clinical Neurology and Neurosurgery",

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AU - Kurtis, Monica M.

AU - San Luciano, Marta

AU - Yu, Qiping

AU - Goodman, Robert R.

AU - Ford, Blair

AU - Raymond, Deborah

AU - Pullman, Seth L.

AU - Saunders-Pullman, Rachel

N1 - Funding Information: Funding : This work was supported by NIH NINDS NS04725604 (RSP), the Dystonia Medical Research Foundation (RSP), and the Parkinson's Disease Foundation (SLP, QY).

PY - 2010/2

Y1 - 2010/2

N2 - Myoclonus-dystonia (M-D) is characterized by early onset myoclonus and dystonia. It is thought to be subcortical in origin. Response to oral medications may be incomplete, such that deep brain stimulation (DBS) surgery to the globus pallidum interna (GPi) or ventral intermediate thalamic nucleus (VIM) may be considered. The optimal site is not known. The physiology and surgical response for a 63-year-old woman who underwent GPi DBS for M-D with onset at age 2 and related to a mutation in the epsilon-sarcoglycan gene (SGCE) is described. She showed excellent clinical and neurophysiological improvement of both myoclonus and dystonia, suggesting that modulation by DBS is effective even after long disease duration and only partial response to oral medications.

AB - Myoclonus-dystonia (M-D) is characterized by early onset myoclonus and dystonia. It is thought to be subcortical in origin. Response to oral medications may be incomplete, such that deep brain stimulation (DBS) surgery to the globus pallidum interna (GPi) or ventral intermediate thalamic nucleus (VIM) may be considered. The optimal site is not known. The physiology and surgical response for a 63-year-old woman who underwent GPi DBS for M-D with onset at age 2 and related to a mutation in the epsilon-sarcoglycan gene (SGCE) is described. She showed excellent clinical and neurophysiological improvement of both myoclonus and dystonia, suggesting that modulation by DBS is effective even after long disease duration and only partial response to oral medications.

KW - Deep brain stimulation

KW - Epsilon-sarcoglycan

KW - Myoclonus-dystonia

KW - Neurophysiology

KW - SGCE

KW - Surgery

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AN - SCOPUS:74149084882

SN - 0303-8467

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SP - 149

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JO - Clinical Neurology and Neurosurgery

JF - Clinical Neurology and Neurosurgery

IS - 2

ER -

Clinical and neurophysiological improvement of SGCE myoclonus-dystonia with GPi deep brain stimulation

Abstract

Keywords

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