Myoclonus in fraternal twin toddlers: A French family with a novel mutation in the SGCE gene

Thümmler, Susanne; Giuliano, Fabienne; Pincemaille, O; Saugier-Veber, Pascale; Perelman, Sergio

doi:10.1016/j.ejpn.2008.11.009

Cited by 9 publications

(6 citation statements)

References 6 publications

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“…Our literature review identified 22 nonduplicated publications, which were classified as single‐family,7, 22, 23, 25, 28–32 multiple‐family,1–4, 9, 15, 20, 33 and larger‐scale studies with sequential probands or multiple unrelated cases26, 27, 34–36 (Supplementary Table 1).…”

Section: Resultsmentioning

confidence: 99%

Psychiatric disorders, myoclonus dystonia, and the epsilon‐sarcoglycan gene: A systematic review

et al. 2011

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Section: Resultsmentioning

confidence: 99%

Psychiatric disorders, myoclonus dystonia, and the epsilon‐sarcoglycan gene: A systematic review

et al. 2011

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“…Oral medications such as benzodiazepines that reduce neuronal excitability via GABAergic mechanisms have been reported to show mild or no improvement in SGCE-MD. 20,29,46,93,[98][99][100] Other therapies such as levetiracetam, 20,93 valproate, 20,32,46,93,98,101 gabapentin, 46 pimozide, 32 trihexiphenidyl, 26,57 and botulinum toxin injections 26,32,102 have also been tried with variable results. Anecdotally, dopaminergic drugs, either levodopa 33 or dopamine-blocking agents like tetrabenazine, 103 have been reported to improve motor signs in patients with SGCE deletions.…”

Section: Treatmentmentioning

confidence: 99%

Twenty years on: Myoclonus‐dystonia and ε‐sarcoglycan — neurodevelopment, channel, and signaling dysfunction

et al. 2019

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A BS TRACT: Myoclonus-dystonia is a clinical syndrome characterized by a typical childhood onset of myoclonic jerks and dystonia involving the neck, trunk, and upper limbs. Psychiatric symptomatology, namely, alcohol dependence and phobic and obsessive-compulsive disorder, is also part of the clinical picture. Zonisamide has demonstrated effectiveness at reducing both myoclonus and dystonia, and deep brain stimulation seems to be an effective and long-lasting therapeutic option for medication-refractory cases. 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. In a few families with a clinical phenotype resembling myoclonus-dystonia associated with distinct clinical features, variants have been identified in genes involved in novel pathways such as calcium channel regulation and neurodevelopment. Because of phenotypic similarities with epsilon-sarcoglycan gene-related myoclonus-dystonia, these conditions can be collectively classified as "myoclonusdystonia syndromes." In the present article, we present myoclonus-dystonia caused by epsilon-sarcoglycan gene mutations, with a focus on genetics and underlying disease mechanisms. Second, we review those conditions falling within the spectrum of myoclonus-dystonia syndromes, highlighting their genetic background and involved pathways. Finally, we critically discuss the normal and pathological function of the epsilon-sarcoglycan gene and its product, suggesting a role in the stabilization of the dopaminergic membrane via regulation of calcium homeostasis and in the neurodevelopmental process involving the cerebello-thalamo-pallido-cortical network.

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“…Motor symptoms in all six patients were typical for MDS, but each presented with different distributions and severity. Although the mutations in the SGCE gene are inherited in an autosomal dominant manner [8,9], one (III:2) of the carriers of the mutation did not have any symptoms of myoclonus-dystonia syndrome. The probable explanation is the phenomenon of so-called maternal imprinting, which has been observed in some families with MDS.…”

Section: Discussionmentioning

confidence: 98%

Clinical phenotype heterogeneity in a family with ε-sarcoglycan gene mutation

Kaczyńska

Jamrozik

Szubiga

et al. 2020

Neurol Neurochir Pol.

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Aim of the study. This paper describes six cases of patients with myoclonus-dystonia syndrome who are members of a family in which an SGCE gene mutation has been confirmed.Clinical rationale for the study. Myoclonus-dystonia syndrome is a very rare disease, with an incidence in Europe of about 2 in every million. Due to the fact that only a few case reports of this illness are accessible in the literature, the material we collected seems to be valuable for clinical practice. Materials and methods.A history was taken, and physical and genetic examinations of the patients were performed. Furthermore, the clinical examination of three patients was video-recorded.Results. The clinical picture of the disease varied significantly between the described individuals, from a healthy carrier of the SGCE mutation to patients presenting mild to moderate symptoms. The differences concerned the age at onset of the disease, the initial symptoms, the intensity of involuntary movements, and the predominant symptoms. In addition to the typical movement disorders which are myoclonus and dystonia, in the described family there was also the coexistence of epilepsy, obsessive-compulsive behaviour, dyslexia, dysgraphia, non-harmonious development of cognitive processes, as well as mild phenotypic features of muscular dystrophy. The mutation (NM_001099401.2:c.806-809delACTG) found in the presented family has not been described elsewhere. Conclusions and clinical implications.Our description of six cases of patients demonstrates the heterogeneity of the natural course of the disease, even in patients with the same mutation. It seems reasonable to regularly examine relatives of patients with myoclonus-dystonia syndrome, who should be observed for involuntary movements as well as non-motor symptoms.

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Myoclonus in fraternal twin toddlers: A French family with a novel mutation in the SGCE gene

Cited by 9 publications

References 6 publications

Psychiatric disorders, myoclonus dystonia, and the epsilon‐sarcoglycan gene: A systematic review

Psychiatric disorders, myoclonus dystonia, and the epsilon‐sarcoglycan gene: A systematic review

Twenty years on: Myoclonus‐dystonia and ε‐sarcoglycan — neurodevelopment, channel, and signaling dysfunction

Clinical phenotype heterogeneity in a family with ε-sarcoglycan gene mutation

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