Myoclonic dystonia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Our finding confirm that SGCE mutations can occur in sporadic patients when the phenotype is consistent with M-D. Further functional studies are needed to show how changes in SGCE protein function lead to the M-D phenotype.
|
30849405 |
2019 |
Myoclonic dystonia
|
1.000 |
Biomarker
|
disease |
BEFREE |
The objective of this study was to assess the long-term clinical outcome, quality of life, and social adjustment of GPi-DBS in patients with ε-sarcoglycan (DYT11)-positive myoclonus-dystonia.
|
30302819 |
2019 |
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 |
GeneticVariation
|
disease |
BEFREE |
In a subset of patients, myoclonus-dystonia is associated with pathogenic variants in the epsilon-sarcoglycan gene, located on chromosome 7q21, and up to now, more than 100 different pathogenic variants of the epsilon-sarcoglycan gene have been described.
|
31449710 |
2019 |
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Hereditary Myoclonus Dystonia: A Novel SGCE Variant and Phenotype Including Intellectual Disability.
|
29607243 |
2018 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Novel SGCE mutation in a patient with myoclonus-dystonia syndrome - Diagnostic delay of more than 40 years.
|
29429788 |
2018 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Hereditary myoclonus-dystonia (DYT 11) is caused by the epsilon-sarcoglycan (SGCE) mutation.
|
27625242 |
2018 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Recent research has highlighted the role of the cerebellum in the pathophysiology of myoclonus-dystonia syndrome as a result of mutations in the ɛ-sarcoglycan gene (DYT11).
|
30334277 |
2018 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Loss-of-function mutations in SGCE, which encodes ε-sarcoglycan (ε-SG), cause myoclonus-dystonia syndrome (OMIM159900, DYT11).
|
27890709 |
2017 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Psychiatric symptoms in myoclonus-dystonia syndrome are just concomitant features regardless of the SGCE gene mutation.
|
28690014 |
2017 |
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 |
Deep brain stimulation for myoclonus-dystonia syndrome with double mutations in DYT1 and DYT11.
|
28102337 |
2017 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our phenotypic characterization highlights the suitability of iPSC-derived cortical neurons with SGCE mutations for myoclonus-dystonia research and, in more general terms, prompts the use of iPSC-derived cellular models to study epigenetic mechanisms impacting on health and disease.
|
28155872 |
2017 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the epsilon-sarcoglycan gene (SGCE, DYT11) on chromosome 7q21-q31 represent the major genetic cause of M-D in some populations.
|
26790671 |
2017 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Physical symptoms of myoclonus dystonia due to epsilon-sarcoglycan mutations are well documented; however, the progression of neuropsychiatric and cognitive symptoms remains unclear.
|
26652670 |
2016 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Myoclonus-dystonia (M-D) is a very rare movement disorder, caused in ∼30-50% of cases by mutations in SGCE.
|
26157024 |
2015 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
Taken together, five of 25 SGCE-negative M-D patients carried RELN rare missense variants.
|
25648840 |
2015 |
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 |
We report a Norwegian family with myoclonus-dystonia and epilepsy associated with a novel SGCE mutation.
|
24297365 |
2014 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Myoclonus-dystonia with a proven SGCE mutation.
|
24638021 |
2014 |
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 |
GeneticVariation
|
disease |
BEFREE |
Two siblings with M-D due to the same SGCE deletion mutation were evaluated with the Global Dystonia Rating Scale (GDRS), Fahn-Marsden Rating Scale (FM) and Unified Myoclonus Rating Scale (UMRS) on and off tetrabenazine.
|
25406829 |
2014 |