Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013421 (dystonia)
 8,418 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The epsilon-sarcoglycan gene (SGCE) on human chromosome 7q21 has been reported to be a major locus for inherited myoclonus-dystonia. Linkage to the SGCE locus has been detected in the majority of families tested, and mutations in the coding region have been found recently in families with autosomal dominant myoclonus-dystonia. To evaluate the relevance of SGCE in myoclonus-dystonia, we sequenced the entire coding region of the epsilon-sarcoglycan gene in 16 patients with either sporadic or familial myoclonus-dystonia. No mutations were found. This study suggests that epsilon-sarcoglycan does not play an important role in sporadic myoclonus-dystonia and supports genetic heterogeneity in familial cases.
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PMID:Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneity. 1450 74

Myoclonic dystonia is mainly described as a familial entity. Nevertheless it is also a syndrome. In the first part of this review we discuss the diagnostic difficulties of myoclonic dystonia which are mainly explained by the numerous denominations. In a second part, these entities (essential myoclonus, benign hereditary chorea, myoclonic dystonia with dramatic response to alcohol) are described, then grouped into one single disease, namely inherited myoclonic dystonia, To date, only benign hereditary chorea family, mapped to chromosome 14q, is still considered as a separate disease. In a third part, the main causes of myoclonic dystonia syndrome are described, with special focus on inherited myoclonic dystonia or myoclonus-dystonia. Numerous mutations are described on the epsilon-sarcoglycan gene located on chromosome 7q21. The function of epsilon-sarcoglycan is still unknown. The clinical features are predominant alcohol-sensitive myoclonus (neck, arms) with mild and more restrained dystonia (torticollis, writer's cramp). Obsessive-compulsive disorder may be associated with the disease. Promising treatments may be medical (gamma-hydroxybutyric acid) and surgical (deep brain stimulation) although therapeutic abstention may be possible owing to the frequent benign course of the disease.
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PMID:[Myoclonic dystonia]. 1461 78

Many cases of myoclonus-dystonia (M-D) are caused by mutations in the epsilon-sarcoglycan (SGCE) gene. We describe 3 children with a similar clinical picture of autosomal dominant M-D and an SGCE mutation in only one of them, suggesting that M-D is genetically heterogeneous.
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PMID:Clinical and genetic features of myoclonus-dystonia in 3 cases: a video presentation. 1497 85

Myoclonus-dystonia syndrome (MDS) is an autosomal dominant disorder characterized by bilateral myoclonic jerks. 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. We conclude that deep brain stimulation can be an effective and safe treatment for MDS.
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PMID:Deep brain stimulation in myoclonus-dystonia syndrome. 1519 20

Mutations in the epsilon-sarcoglycan gene (SGCE) have been reported in families with myoclonus-dystonia (M-D). In addition to abnormal movements, obsessive-compulsive disorder (OCD) has also been described in families with M-D. OCD is a common feature in another movement disorder, namely Tourette syndrome (TS). The comorbidity of these disorders suggests that common genetic factors might be involved in their susceptibility. To evaluate this, we performed two sets of experiments. An association study using a polymorphism within an intron of the SGCE gene was assessed in patients with TS and OCD versus controls, and the SGCE gene itself was screened for mutations in all TS/OCD patients, followed by direct sequencing of the gene in a limited number of these patients. No correlation was found by either method.
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PMID:Examination of the SGCE gene in Tourette syndrome patients with obsessive-compulsive disorder. 1536 14

Epilepsy and electroencephalogram (EEG) abnormalities have been considered exclusion criteria for the clinical diagnosis of myoclonus-dystonia (M-D). 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. A nonsense mutation in exon 3 (289C-->T) of SGCE resulting in the insertion of a premature stop codon (R97X) was detected in affected members of this family.
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PMID:Inherited myoclonus-dystonia and epilepsy: further evidence of an association? 1538 77

Primary dystonias represent a clinically and genetically heterogeneous group of movement disorders. Mutations in the epsilon-sarcoglycan (SGCE) gene have been found recently to cause myoclonus-dystonia (MD). Considerable clinical variation of SGCE mutation carriers leads to the hypothesis that mutations in the SGCE gene might also be relevant for other subtypes of dystonias. To determine the contribution of mutations in the SGCE gene in patients with different subtypes of dystonias, we analyzed the coding sequence of the SGCE gene in a group of 296 patients with a clinical phenotype of primary dystonia and in 2 patients with a clinical phenotype of myoclonus-dystonia. Patients with mutations in the DYT1 gene were excluded. We could not detect a mutation in the SGCE gene in any of the 298 patients. Our results suggest that mutations in the SGCE gene cannot be held responsible for other subtypes of primary dystonia.
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PMID:Lack of mutations in the epsilon-sarcoglycan gene in patients with different subtypes of primary dystonias. 1539 16

Myoclonus dystonia (M-D) is a hereditary movement disorder caused by a maternally imprinted gene that is often associated with psychiatric symptoms. Most cases of M-D are believed to result from mutations of the epsilon-sarcoglycan protein. The neuroanatomical distribution of epsilon-sarcoglycan-like immunoreactivity in mouse was investigated by using an antiserum against the epsilon-sarcoglycan protein. The expression of epsilon-sarcoglycan mRNA was studied by a sensitive fluorescence in situ hybridization (FISH) method. Immunohistochemistry and FISH revealed a wide distribution of epsilon-sarcoglycan protein and mRNA throughout the mouse brain. High expression levels of epsilon-sarcoglycan mRNA and immunoreactivity were found in the mitral cell layer of the olfactory bulb, the Purkinje cell layer in cerebellum, and the monoaminergic neurons in the mouse midbrain. Immunohistochemistry revealed a similar distribution of epsilon-sarcoglycan protein. Double-labeling FISH showed colocalization of tyrosine hydroxylase and epsilon-sarcoglycan mRNAs within all the midbrain dopaminergic (DAergic) cell groups. By combining FISH with fluorescence immunohistochemistry, coexpression of epsilon-sarcoglycan mRNA and tryptophan hydroxylase immunoreactivity was found in the serotonergic (5-HTergic) neurons within the dorsal raphe nucleus. The distribution of epsilon-sarcoglycan in the mouse brain suggests that the symptom complex of M-D may be related to the effects of decreased epsilon-sarcoglycan activity on the development or function of monoaminergic neurons.
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PMID:Epsilon-sarcoglycan immunoreactivity and mRNA expression in mouse brain. 1561 18

Among idiopathic dystonia, inherited dystonia whose causative gene or linkage has been clarified are named as DYT1 to DYT15. The causative genes of DYT1, 5 and 11 were identified as genes of Torsin A, GTP cyclohydrolase I, and epsilon-sarcoglycan, respectively. All three are inherited dominantly. DYT1, and DYT5 which is known as Segawa disease, are dystonia with onset in childhood. After identification of the causative gene, each disorder was found to show the various phenotypes. In both DYT1 and Segawa disease, early onset develops generalized dystonia, and later onset focal or segmental dystonia. Deep brain stimulation of globus pallidus internal segment shows remarkable effect on DYT1. Segawa disease responds markedly to L-dopa without any side effect lifelong. The pathophysiology of Segawa disease is that partial deficiency of BH4 resulted from GCH I deficiency, rate limiting enzyme of synthesis of BH4, affects the TH activity at terminal of nigrostriatal dopamine neuron. The role of Torsin A in the pathogenesis of DYT1 is unknown. For a certain neuron or neuronal system to manifest a clinical symptom, it should reach to a certain maturational level. The symptoms of inherited dystonia are influenced by the developmental level of responsible neuron or neuronal circuit.
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PMID:[Inherited dystonia update]. 1565 34

Primary dystonia is a movement disorder characterized by involuntary and sustained muscle contractions causing twisting or abnormal postures and mutations in several genes have been identified. Our goal was to investigate, whether the clinical presentation would differ between patients with a positive family history, and patients without. Furthermore, we have performed mutation analysis in the subgroup of patients with a positive family history. A total of 175 patients with primary dystonia were evaluated. Data on gender, presence and frequency of pain and tremor, age of onset, and the distribution of affected body parts were compared between patients with positive and negative family history. All exons of the torsion dystonia 1, GTP cyclohydrolase 1 and epsilon-sarcoglycan genes were examined in 40 patients by SSCP analysis of PCR products followed by sequencing of variant conformers. Dystonia patients with a positive family history of dystonia had an earlier age of onset and those with a positive family history of tremor more often associated tremor than those with a negative family history. Four new polymorphisms in the epsilon-sarcoglycan gene were found and others confirmed, but no known or new mutations could be detected. Our study supports the notion that primary dystonia is a genetically heterogeneous disease.
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PMID:Clinical and molecular genetic evaluation of patients with primary dystonia. 1567 1


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