|
Myoclonic dystonia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Myoclonus-dystonia is a clinical syndrome corresponding to the phenotype linked to SGCE, the main causative gene.
|
29952836 |
2018 |
|
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Myoclonus-dystonia (M-D) due to a pathogenic variant of SGCE is an autosomal dominant inherited movement disorder.
|
31706131 |
2019 |
|
Myoclonic dystonia
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
SGCE deficiency seems to be the common pathogenetic mechanism in myoclonus-dystonia syndrome.
|
12325078 |
2002 |
|
Myoclonic dystonia
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
SGCE deficiency seems to be the common pathogenetic mechanism in myoclonus-dystonia syndrome.
|
12325078 |
2002 |
|
Myoclonic dystonia
|
1.000 |
Biomarker
|
disease |
BEFREE |
SGCE deficiency seems to be the common pathogenetic mechanism in myoclonus-dystonia syndrome.
|
12325078 |
2002 |
|
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Epsilon-sarcoglycan mutation accounts for a sub-group of myoclonus-dystonia, but other genes are still unidentified.
|
14628853 |
2003 |
|
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA.
|
17200151 |
2007 |
|
Myoclonic dystonia
|
1.000 |
Biomarker
|
disease |
BEFREE |
SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype.
|
25209853 |
2014 |
|
Myoclonic dystonia
|
1.000 |
Biomarker
|
disease |
BEFREE |
A gain-of-glycosylation mutation associated with myoclonus-dystonia syndrome affects trafficking and processing of mouse ε-sarcoglycan in the late secretory pathway.
|
21796726 |
2011 |
|
Myoclonic dystonia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A major locus for myoclonus-dystonia maps to chromosome 7q in eight families.
|
11022010 |
2000 |
|
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A mutation in the DYT11 gene underlies half of MD cases.
|
23474191 |
2013 |
|
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel conserved mutation in SGCE gene in 3 unrelated patients with classical phenotype myoclonus-dystonia syndrome.
|
23561547 |
2013 |
|
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation in the epsilon-sarcoglycan gene causing myoclonus-dystonia syndrome.
|
12743249 |
2003 |
|
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation of the epsilon-sarcoglycan gene in a Chinese family with myoclonus-dystonia syndrome.
|
18581468 |
2008 |
|
Myoclonic dystonia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A patient with genetically confirmed myoclonus-dystonia responded to anticholinergic treatment and improved spontaneously.
|
22259621 |
2011 |
|
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A specific analysis of the SGCE gene was subsequently initiated, which revealed a pathogenic aberration confirming the diagnosis of DYT11.
|
26278497 |
2015 |
|
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Abnormal striatal plasticity in a DYT11/SGCE myoclonus dystonia mouse model is reversed by adenosine A2A receptor inhibition.
|
28823931 |
2017 |
|
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
After excluding SGCE mutations, we identified through a combination of linkage analysis and whole-exome sequencing KCTD17 c.434 G>A p.(Arg145His) as the only segregating variant in a dominant British pedigree with seven subjects affected by M-D. A subsequent screening in a cohort of M-D cases without mutations in SGCE revealed the same KCTD17 variant in a German family.
|
25983243 |
2015 |
|
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
As the epsilon sarcoglycan (SGCE) gene for M-D was subsequently identified, we evaluated the relationship between psychiatric features and SGCE mutations in these original and two additional families and confirm that OCD and alcohol dependence are associated with manifesting mutated SGCE.
|
17296918 |
2007 |
|
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant myoclonus-dystonia and Tourette syndrome in a family without linkage to the SGCE gene.
|
17702041 |
2007 |
|
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant alcohol-responsive M-D is associated with mutations in the epsilon-sarcoglycan gene (SGCE) (six families) and with a missense change in the D2 dopamine receptor (DRD2)gene (one family).
|
12391346 |
2002 |
|
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Bilateral deep brain stimulation of the pallidum for myoclonus-dystonia due to ε-sarcoglycan mutations: a pilot study.
|
21220679 |
2011 |
|
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Clinical and genetic heterogeneity also characterizes myoclonus-dystonia, which includes not only the classical phenotype associated with epsilon-sarcoglycan mutations but rarely also presentation of ANO3 gene mutations, TITF1 gene mutations typically underlying benign hereditary chorea, and some dopamine synthesis pathway conditions due to GCH1 and TH mutations.
|
25643588 |
2015 |
|
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Cognitive and behavioural characteristics of 27 DYT11 MC (14 symptomatic and 13 asymptomatic) and 42 control subjects from 1 large Dutch M-D family were studied.
|
19506430 |
2009 |
|
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Deep brain stimulation for myoclonus-dystonia syndrome with double mutations in DYT1 and DYT11.
|
28102337 |
2017 |