Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Defining the epsilon-sarcoglycan (SGCE) gene phenotypic signature in myoclonus-dystonia: a reappraisal of genetic testing criteria.
|
23677909 |
2013 |
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 |
Myoclonus-dystonia (M-D) is a movement disorder that is often associated with mutations in epsilon-sarcoglycan (SGCE), a maternally imprinted gene at 7q21.3.
|
23237735 |
2013 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We established a cohort of patients with myoclonus dystonia syndrome and SGCE mutations to determine the extent to which psychiatric disorders form part of the disease phenotype.
|
23365103 |
2013 |
Myoclonic dystonia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Defining the epsilon-sarcoglycan (SGCE) gene phenotypic signature in myoclonus-dystonia: a reappraisal of genetic testing criteria.
|
23677909 |
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 |
Herein, we report the use of cDNA derived from leukocyte RNA to identify a deletion mutation (exons 4 and 5) of SGCE in a family with DYT11.
|
23140253 |
2013 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Dystonias with known genes include DYT1 and DYT6 dystonia, presenting as isolated torsion dystonia, as well as DYT5 (dopa-responsive dystonia), DYT11 (myoclonus-dystonia), and DYT12 (rapid-onset dystonia-parkinsonism), where dystonia occurs in conjunction with other types of movement disorders.
|
23622412 |
2013 |
Myoclonic dystonia
|
1.000 |
Biomarker
|
disease |
MGD |
Our results put DYT11 M-D in a growing family of nuclear envelopathies.
|
22040906 |
2012 |
Myoclonic dystonia
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Extensive batteries of neuropsychological tests and psychiatric questionnaires were administered to DYT11 gene mutation-carrying (MC) M-D patients (n=31), non-mutation-carrying (NMC) M-D patients (n=20) and a healthy control group (n=36).
|
22626943 |
2012 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This report presents a novel mutation in the SGCE gene causing myoclonus dystonia and extends the phenotype of myoclonus dystonia to also include alcohol-induced dystonia.
|
22026499 |
2012 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
(1) To study the neuropsychological and psychopathological profile in myoclonus-dystonia (M-D) patients with and without a mutation in the DYT11 gene.
|
22626943 |
2012 |
Myoclonic dystonia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Neuroimaging studies of DYT11 M-D patients show reduced dopamine D2 receptor (D2R) availability, although the possibility of increased endogenous dopamine, and consequently, competitive D2R occupancy cannot be ruled out.
|
22438980 |
2012 |
Myoclonic dystonia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Microdeletions of movement disorder genes including epsilon-sarcoglycan (SGCE) and thyroid transcription factor-1 (TITF1) have been described in patients with myoclonus dystonia and benign hereditary chorea respectively.
|
22515636 |
2012 |
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 |
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 |
GeneticVariation
|
disease |
UNIPROT |
Missense mutations in the SGCE gene encoding ε-sarcoglycan account for approximately 15% of SGCE-positive cases of myoclonus-dystonia syndrome (MDS) in humans.
|
21796726 |
2011 |
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 |
Biomarker
|
disease |
BEFREE |
The development of myoclonus in this patient lends further support to the hypothesis that abnormal imprinting of the SGCE gene is responsible for some cases of myoclonus-dystonia syndrome.
|
20684011 |
2010 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
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.
|
19896264 |
2010 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Myoclonus-dystonia (M-D) is caused by heterozygous mutations of the epsilon-sarcoglycan gene (SGCE).
|
20590807 |
2010 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Large SGCE deletion contributes to Taiwanese myoclonus-dystonia syndrome.
|
20800530 |
2010 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We describe two unrelated children with M-D (DYT11) who presented with writer's cramp.
|
18571946 |
2009 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Sequencing of the SGCE gene revealed a novel nonsense mutation c.942C>A (p.Tyr314X) in exon 7, confirming the diagnosis of myoclonus dystonia.
|
19147379 |
2009 |
Myoclonic dystonia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
In the definite M-D group, 50% carried an SGCE mutation and one single patient in the probable group (4%).
|
19066193 |
2009 |