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Neurogenetics
Published in John W. Scadding, Nicholas A. Losseff, Clinical Neurology, 2011
Sonia Gandhi, Sarah Tabrizi, Nicholas Wood
In these disorders, dystonia presents with additional features. For example, familial cases of dystonia in association with myoclonic jerks affecting the trunk, neck and proximal extremities may be due to ‘myoclonus-dystonia’, caused by mutations in the epsilon-sarcoglycan gene (DYT11). DYT 3/Lubag dystonia is an X-linked recessive dystonia caused by mutations in the TAF1 gene. It is predominantly found in the Filipino population, presenting with adult onset dystonia followed by parkinsonism. DYT12 or rapid-onset dystonia-parkinsonism is a rare disorder characterized by dystonia manifesting over hours to weeks, and may be associated with parkinsonism that is not L-dopa responsive. It is caused by mutations in the ATP1A3 gene (the Na+/K+ ATPase a 3 gene), and is autosomal dominant with reduced penetrance.
Cannabis alters DNA methylation at maternally imprinted and autism candidate genes in spermatogenic cells
Published in Systems Biology in Reproductive Medicine, 2022
Rose Schrott, Katherine W. Greeson, Dillon King, Krista M. Symosko Crow, Charles A. Easley, Susan K. Murphy
We first examined the regulatory regions associated with imprinted genes in CE- and vehicle-exposed sorted cells. No paternally methylated DMRs showed significant effects of exposure in the SSC-like or in the haploid spermatid-like cells. Among the maternally methylated DMRs analyzed, we observed a significant effect of CE exposure on DNA methylation at the SGCE DMR in the SSC-like cells. SGCE encodes the epsilon member of the sarcoglycan family of transmembrane proteins (Peall et al. 2014). Mutations in SGCE are associated with myoclonus dystonia syndrome (MDS), a rare young-onset movement disorder (Peall et al. 2013, 2014). Maternal imprinting plays a role in regulating the penetrance of this heritable disorder (Peall et al. 2013, 2014). Additionally, the promoter CpG island that houses this SGCE DMR also regulates the expression of another imprinted gene, Paternally Expressed Gene 10 (PEG10). PEG10 encodes a retrotransposable element, and deregulation of this region has been reported in cancers (Xie et al. 2018). Thus, alterations in methylation at this regulatory region could have implications for multiple pathologies.
Deep brain stimulation for childhood dystonia: current evidence and emerging practice
Published in Expert Review of Neurotherapeutics, 2018
Lior M. Elkaim, Phillippe De Vloo, Suneil K. Kalia, Andres M. Lozano, George M. Ibrahim
Childhood dystonia is an important medical problem. However, for several patients, medical management alone is insufficient. When carefully selected, many of these medication-refractory patients experience significant symptomatic improvement after DBS. Beyond dystonic symptoms, DBS can improve quality of life and reduce caretaker burden. For children and youth with primary dystonia, DBS should be promptly considered, especially because longer delays from diagnosis to surgery may limit outcome. This recommendation applies to both DYT1 and non-DYT1 patients, although better outcomes are expected in DYT1 patients. Patients with myoclonus-dystonia respond similarly well, although the sample size is small. Results for secondary dystonia are more variable. For now, recommendations can be made for DBS in dystonic children and youth with PKAN or LND, but not for GA1 or kernicterus-associated dystonia. For all dystonia etiologies (primary, secondary and myoclonus), there is a need for research identifying optimal stimulation parameters and DBS targets. Further studies should also focus on which areas of the body are most amenable to DBS. Moreover, it is not yet clear whether DBS efficacy decreases over time or remains stable; in the latter case, it will be of interest to know whether sustained benefit is due to expected disease course or long-term effects of DBS. Finally, more studies presenting long-term follow-up data are needed and should include analysis of DBS effects on cognitive and/or musculoskeletal development.
Non paraneoplastic immune-mediated calcium channel chorea
Published in Baylor University Medical Center Proceedings, 2019
Travis T. Morgan, Alex Armitage, Britt Stone, Jared Benge
A pathophysiologic basis for the development of chorea in relation to N-type VGCC antibodies could be posited by extrapolating from a mouse model study of Huntington disease, where mutant huntingtin protein expression was shown to affect N-type calcium channel function.9 In humans, movement disorders have been observed with a mutation of the CACNA1B gene, which encodes the neuronal VGCC. Clinically this has been described as a unique myoclonus-dystonia syndrome.10 Further studies would be needed to elucidate the mechanisms underpinning the relationship between antibodies to the N-type calcium channel and clinical manifestations.