Myoclonus dystonia syndrome: a novel ε-sarcoglycan gene mutation with variable clinical symptoms

Akbari, M T; Mirfakhraie, Reza; Zare-Karizi, Shohreh; Shahidi, Gholam Ali

doi:10.1016/j.gene.2014.07.029

Cited by 1 publication

(2 citation statements)

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“…126 An updated list of known pathogenic variants of the SGCE gene is summarized in Supplementary Table 1 (missense, nonsense, and splice-site pathogenic variants) [127][128][129][130] and Supplementary Table 2 (deletions, insertions, and complex rearrangements). 127,[131][132][133][134][135][136][137][138] Curiously, in Silver-Russel syndrome (SRS, OMIM 180860), a growth disorder caused by maternal uniparental disomy of chromosome 7 (mUPD7) in 5%-10% of cases, 139,140 children do not express the SGCE gene; nevertheless, only a few cases have been described with myoclonic and dystonic features. [141][142][143][144] Affected children show intrauterine growth restriction and postnatal growth retardation with proportionate short stature, relative macrocephaly, triangular facial appearance, fifth finger clinodactyly, body asymmetry, and feeding difficulties.…”

Section: Sgce-md: Genetics and Pathophysiologymentioning

confidence: 99%

“…For instance, deletion of COL1A2 can cause variable collagen abnormalities such as blue sclerae, hypodontia, recurrent subluxations, ligamentous laxity, and short stature, whereas KRIT1 haploinsufficiency has been related to the presence of cavernous cerebral malformations type I . An updated list of known pathogenic variants of the SGCE gene is summarized in Supplementary Table 1 (missense, nonsense, and splice‐site pathogenic variants) and Supplementary Table 2 (deletions, insertions, and complex rearrangements) …”

Section: Sgce‐md: Genetics and Pathophysiologymentioning

confidence: 99%

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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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