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Cortical neuronal hyperexcitability and synaptic changes in SGCE mutation-positive myoclonus dystonia.
Sperandeo A, Tamburini C, Noakes Z, de la Fuente DC, Keefe F, Petter O, Plumbly W, Clifton NE, Li M, Peall KJ. Sperandeo A, et al. Brain. 2023 Apr 19;146(4):1523-1541. doi: 10.1093/brain/awac365. Brain. 2023. PMID: 36204995 Free PMC article.
It represents one of the few autosomal dominant inherited dystonic disorders and is caused by mutations in the epsilon-sarcoglycan (SGCE) gene. Work to date suggests that dystonia is caused by disruption of neuronal networks, principally basal ganglia-cerebel …
It represents one of the few autosomal dominant inherited dystonic disorders and is caused by mutations in the epsilon-sarcoglycan …
Twenty years on: Myoclonus-dystonia and epsilon-sarcoglycan - neurodevelopment, channel, and signaling dysfunction.
Menozzi E, Balint B, Latorre A, Valente EM, Rothwell JC, Bhatia KP. Menozzi E, et al. Mov Disord. 2019 Nov;34(11):1588-1601. doi: 10.1002/mds.27822. Epub 2019 Aug 26. Mov Disord. 2019. PMID: 31449710 Review.
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 describ …
In a subset of patients, myoclonus-dystonia is associated with pathogenic variants in the epsilon-sarcoglycan gene, located on …
Tremor in Primary Monogenic Dystonia.
Pandey S, Bhattad S, Dinesh S. Pandey S, et al. Curr Neurol Neurosci Rep. 2021 Jul 15;21(9):48. doi: 10.1007/s11910-021-01135-w. Curr Neurol Neurosci Rep. 2021. PMID: 34264428 Review.
Tremor was reported in nine dystonia genes, namely DYT-HPCA, DYT-ANO3, DYT-KCTD17, DYT-THAP1, DYT-PRKRA, DYT-GNAL, DYT-TOR1A, DYT-KMT2B, and DYT-SGCE in the descending order of its frequency. HPCA gene mutation is rare, but all reported patients had tremor. ...
Tremor was reported in nine dystonia genes, namely DYT-HPCA, DYT-ANO3, DYT-KCTD17, DYT-THAP1, DYT-PRKRA, DYT-GNAL, DYT-TOR1A, DYT-KMT2B, and …
Population Prevalence of Deleterious SGCE Variants.
LeDoux MS. LeDoux MS. Tremor Other Hyperkinet Mov (N Y). 2020 Nov 4;10:50. doi: 10.5334/tohm.567. Tremor Other Hyperkinet Mov (N Y). 2020. PMID: 33200041 Free PMC article.
The population prevalence of SGCE-linked M-D is unknown, the pathogenicity of SGCE variants identified in patients with M-D may be indeterminant, and SGCE variants predicted to be deleterious by in silico analysis may appear in patients undergoing whole-exome …
The population prevalence of SGCE-linked M-D is unknown, the pathogenicity of SGCE variants identified in patients with M-D ma …
A Clinical and Integrated Genetic Study of Isolated and Combined Dystonia in Taiwan.
Wu MC, Chang YY, Lan MY, Chen YF, Tai CH, Lin YF, Tsai SF, Chen PL, Lin CH. Wu MC, et al. J Mol Diagn. 2022 Mar;24(3):262-273. doi: 10.1016/j.jmoldx.2021.12.003. Epub 2022 Jan 15. J Mol Diagn. 2022. PMID: 35041927 Free article.
A genetic diagnosis was more likely with juvenile onset compared with adult onset (24.2% vs 10.8%; P = 0.03) and those with combined features, especially with myoclonus, compared with isolated dystonia (35.3% vs 10.5%; P = 0.004). The most common causative genes were SGCE …
A genetic diagnosis was more likely with juvenile onset compared with adult onset (24.2% vs 10.8%; P = 0.03) and those with combined feature …
Functional and Molecular Properties of DYT-SGCE Myoclonus-Dystonia Patient-Derived Striatal Medium Spiny Neurons.
Kutschenko A, Staege S, Grütz K, Glaß H, Kalmbach N, Gschwendtberger T, Henkel LM, Heine J, Grünewald A, Hermann A, Seibler P, Wegner F. Kutschenko A, et al. Int J Mol Sci. 2021 Mar 30;22(7):3565. doi: 10.3390/ijms22073565. Int J Mol Sci. 2021. PMID: 33808167 Free PMC article.
It is caused by mutations in the SGCE gene encoding epsilon-sarcoglycan leading to a dysfunction of this transmembrane protein, alterations in the cerebello-thalamic pathway and impaired striatal plasticity. ...SGCE MSNs showed significantly reduced GA …
It is caused by mutations in the SGCE gene encoding epsilon-sarcoglycan leading to a dysfunction of this transmembrane …
Mutation in epsilon-Sarcoglycan Induces a Myoclonus-Dystonia Syndrome-Like Movement Disorder in Mice.
Li J, Liu Y, Li Q, Huang X, Zhou D, Xu H, Zhao F, Mi X, Wang R, Jia F, Xu F, Yang J, Liu D, Deng X, Zhang Y. Li J, et al. Neurosci Bull. 2021 Mar;37(3):311-322. doi: 10.1007/s12264-020-00612-5. Epub 2020 Dec 23. Neurosci Bull. 2021. PMID: 33355901 Free PMC article.
Myoclonus dystonia syndrome (MDS) is an inherited movement disorder, and most MDS-related mutations have so far been found in the epsilon-sarcoglycan (SGCE) coding gene. By generating SGCE-knockout (KO) and human 237 C > T mutation knock-in (KI) mic …
Myoclonus dystonia syndrome (MDS) is an inherited movement disorder, and most MDS-related mutations have so far been found in the epsilon …
Dissecting genetic architecture of rare dystonia: genetic, molecular and clinical insights.
Atasu B, Simón-Sánchez J, Hanagasi H, Bilgic B, Hauser AK, Guven G, Heutink P, Gasser T, Lohmann E. Atasu B, et al. J Med Genet. 2024 Apr 19;61(5):443-451. doi: 10.1136/jmg-2022-109099. J Med Genet. 2024. PMID: 38458754 Free article.
RESULTS: We identified potentially disease-causing variants in the established dystonia genes (PRKRA, SGCE, KMT2B, SLC2A1, GCH1, THAP1, HPCA, TSPOAP1, AOPEP; n=11 families (26%)), in the uncommon forms of dystonia-associated genes (PCCB, CACNA1A, ALDH5A1, PRKN; n=4 familie …
RESULTS: We identified potentially disease-causing variants in the established dystonia genes (PRKRA, SGCE, KMT2B, SLC2A1, GCH1, THAP …
Whole exome sequencing and clinical investigation of young onset dystonia: What can we learn?
Ahn JH, Kim AR, Park WY, Cho JW, Park J, Youn J. Ahn JH, et al. Parkinsonism Relat Disord. 2023 Oct;115:105814. doi: 10.1016/j.parkreldis.2023.105814. Epub 2023 Aug 17. Parkinsonism Relat Disord. 2023. PMID: 37607452
We excluded subjects diagnosed by single gene tests (GCH1, TOR1A, PANK2, PRRT2, and SGCE) or levodopa trials and subjects with focal or possible secondary dystonia. ...
We excluded subjects diagnosed by single gene tests (GCH1, TOR1A, PANK2, PRRT2, and SGCE) or levodopa trials and subjects with focal …
Screening for SGCE mutations in Moroccan sporadic patients with Myoclonus-Dystonia syndrome.
Rachad L, El Otmani H, Karkar A, El Moutawakil B, El Kadmiri N, Nadifi S. Rachad L, et al. Neurosci Lett. 2019 Jun 11;703:1-4. doi: 10.1016/j.neulet.2019.03.003. Epub 2019 Mar 5. Neurosci Lett. 2019. PMID: 30849405
Myoclonus-Dystonia (M-D) is a rare autosomal-dominant movement disorder characterized by myoclonic jerks in combination with dystonia and psychiatric features. Mutations in the Epsilon-sarcoglycan (SGCE, DYT11) gene have been found to cause M-D in 30%-50% of …
Myoclonus-Dystonia (M-D) is a rare autosomal-dominant movement disorder characterized by myoclonic jerks in combination with dystonia and ps …
48 results