Dystonia Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Whole-exome sequencing identified an SGCE variant (c.1295G > A, p.Ser432His) that could possibly have contributed to the development of dystonia in the proband.
|
23849371 |
2013 |
Dystonia Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Bilateral globus pallidus internus deep brain stimulation can be effective in ameliorating epsilon sarcoglycan negative myoclonus with or without concurrent dystonia.
|
24812007 |
2014 |
Dystonia Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Six patients aged 7 to 16 years and diagnosed with isolated dystonia ( DYT1 negative) (3 patients), choreo-dystonia related to PDE2A mutation (1 patient), or myoclonus-dystonia syndrome SGCE mutations (2 patients) were evaluated during a period of 6 to 19 months.
|
30028274 |
2018 |
Dystonia Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The intermuscular coherence in the low frequency band in DYT11 MC with predominant dystonia is concordant with the previously described coherence in dystonia and suggests that the pathophysiology of M-D shares common pathophysiological features with dystonia.
|
17486590 |
2007 |
Dystonia Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We report on the second M-D family in which several clinically affected epsilon-sarcoglycan gene (SGCE) mutation carriers have seizures in addition to myoclonus and dystonia, adding to the evidence that epilepsy and EEG abnormalities may form part of the phenotypic spectrum of the condition.
|
15389977 |
2004 |
Dystonia Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Myoclonus-dystonia (M-D) due to SGCE mutations is characterized by early onset myoclonic jerks, often associated with dystonia.
|
18175340 |
2008 |
Dystonia Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
In addition, conditional knockout mouse models for DYT1 and DYT11 dystonia demonstrate that loss of the causal dystonia-related proteins in the striatum leads to motor deficits.
|
23893455 |
2013 |
Dystonia Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The aim of this study was to characterize myoclonus in 9 patients with DYT11-MDS presenting with predominant myoclonus and mild dystonia by means of neurophysiological techniques.
|
18759336 |
2008 |
Dystonia Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
This study provides the first neurophysiological evidence of cerebellar dysfunction in DYT11 dystonia and supports a role of cerebellar dysfunction in the myoclonus-dystonia phenotype.
|
21386109 |
2011 |
Dystonia Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
An 8-year-old boy presenting with early onset, medically intractable, MDS due to a mutation in the epsilon-sarcoglycan gene (SGCE) underwent chronic bilateral stimulation of the globus pallidus internus, which eliminates both myoclonus and dystonia.
|
15197720 |
2004 |
Dystonia Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The cortical activation patterns in SGCE mutation carriers during this motor task point to a disorganized sensorimotor integration in this uniform group of patients with dystonia and are consistent with functional neuroimaging studies in other types of (hereditary) dystonia.
|
20385914 |
2010 |
Dystonia Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
Myoclonus-dystonia (M-D, DYT11) is a dystonia plus syndrome characterized by brief myoclonic jerks predominantly of neck and upper limbs in combination with focal or segmental dystonia.
|
17898012 |
2007 |