A major locus for several phenotypes of myoclonus–dystonia on chromosome 7q

  title={A major locus for several phenotypes of myoclonus–dystonia on chromosome 7q},
  author={Marie Vidailhet and Johann Tassin and Frank Durif and Annie Nivelon-Chevallier and Yves Agid and Alexis Brice and Alexandra D{\"u}rr},
  pages={1213 - 1216}
Myoclonus–dystonia is a genetically heterogeneous autosomal dominant disorder caused by a mutation in the D2 dopamine receptor on chromosome 11 and a locus on chromosome 7q21-q31. The authors tested linkage to the chromosome 7q candidate region in four families with either myoclonic dystonia (n = 3) or essential myoclonus (n = 1). Age at onset ranged from 0.5 to 38 years. Only four patients from two families had a positive response to alcohol. Lod scores were positive in all four families… 
Genetic Aspects of Myoclonus–Dystonia Syndrome (MDS)
The genetic aspects of myoclonus–dystonia are discussed and a second locus has been reported in one large M–D family (DYT15, 18p11), but no gene has been identified yet.
A novel locus for inherited myoclonus-dystonia on 18p11
Findings indicate that a novel IMD gene exists on chromosome 18p11, a new term for an autosomal dominant disorder characterized by myoclonus and dystonia, in a large Canadian family in whom 13 individuals are affected.
Clinical findings of a myoclonus-dystonia family with two distinct mutations
The authors describe the clinical details of this family carrying mutations in two different dystonia genes and identify a missense change in the SGCE gene.
Genetic architecture of dystonia
Background: Myoclonus Dystonia (M-D) is genetic and clinically heterogeneous. Identification and description of rare M-D syndromes may contribute to gene identification. Results: Here, we describe a
Analysis of the ϵ‐sarcoglycan gene in familial and sporadic myoclonus‐dystonia: Evidence for genetic heterogeneity
It is suggested that ϵ‐sarcoglycan does not play an important role in sporadic myoclonus–dystonia and supports genetic heterogeneity in familial cases.
Phenotypic features of myoclonus-dystonia in three kindreds
Cognitive deficits may be associated with M-D, a movement disorder with involuntary jerks and dystonic contractions, and psychiatric abnormalities correlate with the motor symptoms in affected individuals.
Myoclonus–dystonia syndrome: ε‐sarcoglycan mutations and phenotype
Clinical and genetic findings in nine additional European families with myoclonus‐dystonia syndrome are reported, finding that SGCE deficiency seems to be the common pathogenetic mechanism in myOClonus-dySTONia syndrome.
Myoclonus-dystonia syndrome.
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  • Psychology, Medicine
    Handbook of clinical neurology
  • 2011
Dopa-responsive dystonia due to mutation in the GTP-CH gene and vitamin E deficiency can present with a phenotype of dySTONia and myoclonus in combination; both conditions should be considered in the diagnostic approach to patients since they are potentially treatable.
Myoclonus in a patient with a deletion of the ε‐sarcoglycan locus on chromosome 7q21
This patient is the first case of MDS caused by complete deletion of SGCE, and represents a new contiguous gene disorder, which underscores the need to consider chromosomal deletions in patients whose phenotypes are more complex than the classic presentation of a known disease.
Autosomal dominant myoclonus‐dystonia and Tourette syndrome in a family without linkage to the SGCE gene
The presence of both M‐ D and GTS in one family, in which all known M‐D loci and a recently discovered GTS locus were excluded, suggests a novel susceptibility gene for both M-D and G TS.


A major locus for myoclonus-dystonia maps to chromosome 7q in eight families.
Evidence is provided for a major locus for M-D on chromosome 7q21, implicated in one family with this syndrome, and linkage to a 28-cM region on 7q has been reported in another.
Localization of a gene for myoclonus‐dystonia to chromosome 7q21‐q31
A large kindred with essential familial myoclonus‐dystonia is reported and a locus for the disorder is mapped to a 28‐cM region of chromosome 7q21‐q31.
Association of a missense change in the D2 dopamine receptor with myoclonus dystonia.
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  • Biology, Medicine
    Proceedings of the National Academy of Sciences of the United States of America
  • 1999
A family with eight members with MD is reported, providing evidence for the involvement of DRD2 in a disorder of the central nervous system and should lead to further insight into the function of the dopaminergic system in dystonia and other movement and mood disorders.
Evaluation of the role of the D2 dopamine receptor in myoclonus dystonia
Receptor binding and signal transduction assays of the DRD2 mutant and wild‐type receptors revealed identical agonist and antagonist affinities and functional responses, suggesting that M‐D is genetically heterogeneous.
A comprehensive genetic map of the human genome based on 5,264 microsatellites
The last version of the Généthon human linkage map is reported, which consists of 5,264 short tandem repeat polymorphisms with a mean heterozygosity of 70%.
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  • Medicine
    The New England journal of medicine
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Treatment of complications of cerebral arteriography related to the injection of radiopaque contrast medium or to the mechanics of placing a needle or catheter in the arterial system is discussed.
Multilocus linkage analysis in humans: detection of linkage and estimation of recombination.
A computer program package, LINKAGE, for multilocus linkage analysis is described and the appropriateness of assuming no interference with data available in human genetic studies is considered.
The role of systemic blood pressure in cerebral circulation in carotid and basilar artery thromboses; clinical observations and therapeutic implications of vasopressor agents.
The role of systemic blood pressure in maintaining cerebral blood flow has been demonstrated in the cases of two patients with advanced arteriosclerotic disease of the carotid and basilar arteries in order to prevent or improve focal neurologic symptoms.
Avoiding recomputation in linkage analysis.
From a practical point of view, the most important improvement may be the checkpointing facility which allows the user to carry out linkage computations that are much longer than the mean-time-to-failure of the underlying computer.