Read by QxMD icon Read


Laila Rachad, Hicham El Otmani, Adnane Karkar, Bouchra El Moutawakil, Nadia El Kadmiri, Sellama Nadifi
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 familial M-D. Sporadic cases have also been reported. The aim of study was to investigate whether the M-D phenotype is associated with the existence of SGCE mutations in Moroccan sporadic patients with M-D syndrome. The study included 12 M-D patients. We sequenced the entire coding region of the SGCE gene...
March 5, 2019: Neuroscience Letters
Yu-Qing Zhang, Jia-Wei Wang, Yun-Peng Wang, Xiao-Hua Zhang, Ji-Ping Li
BACKGROUND: Myoclonic dystonia syndrome (MDS) is a rare inherited movement disorder characterized by the coexistence of myoclonic jerks and dystonia. Deep brain stimulation (DBS) is a promising treatment for MDS patients targeting the globus pallidus internus (GPi) or ventral intermediate nucleus (Vim) of the thalamus. However, there are few studies regarding the long-term effects of Vim DBS in MDS patients and even fewer in those without gene mutations. METHODS: Two positive and three negative SGCE mutation patients presenting with predominant myoclonus underwent Vim DBS...
November 9, 2018: World Neurosurgery
John S House, Michelle Mendez, Rachel L Maguire, Sarah Gonzalez-Nahm, Zhiqing Huang, Julie Daniels, Susan K Murphy, Bernard F Fuemmeler, Fred A Wright, Cathrine Hoyo
Background: Maternal diet during pregnancy has been shown to influence the child neuro-developmental outcomes. Studies examining effects of dietary patterns on offspring behavior are sparse. Objective: Determine if maternal adherence to a Mediterranean diet is associated with child behavioral outcomes assessed early in life, and to evaluate the role of differentially methylated regions (DMRs) regulating genomically imprinted genes in these associations. Methods: Among 325 mother/infant pairs, we used regression models to evaluate the association between tertiles of maternal periconceptional Mediterranean diet adherence (MDA) scores derived from a Food Frequency Questionnaire, and social and emotional scores derived from the Infant Toddler Social and Emotional Assessment (ITSEA) questionnaire in the second year of life...
2018: Frontiers in Cell and Developmental Biology
Sanaa Choufani, Andrei L Turinsky, Nir Melamed, Ellen Greenblatt, Michael Brudno, Anick Bérard, William D Fraser, Rosanna Weksberg, Jacquetta Trasler, Patricia Monnier, For The D Cohort Study Group
Children conceived using Assisted Reproductive Technologies (ART) have a higher incidence of growth and birth defects, attributable in part to epigenetic perturbations. Both ART and germline defects associated with parental infertility could interfere with epigenetic reprogramming events in germ cells or early embryos. Mouse models indicate that the placenta is more susceptible to the induction of epigenetic abnormalities than the embryo, and thus the placental methylome may provide a sensitive indicator of 'at risk' conceptuses...
September 19, 2018: Human Molecular Genetics
Jingyue Ellie Duan, Mingyuan Zhang, Kaleigh Flock, Sahar Al Seesi, Ion Mandoiu, Amanda Jones, Elizabeth Johnson, Sambhu Pillai, Maria Hoffman, Katelyn McFadden, Hesheng Jiang, Sarah Reed, Kristen Govoni, Steve Zinn, Zongliang Jiang, Xiuchun Cindy Tian
Genomic imprinting is an epigenetic phenomenon of differential allelic expression based on parental origin. To date, 263 imprinted genes have been identified among all investigated mammalian species. However, only 21 have been described in sheep, of which 11 are annotated in the current ovine genome. Here, we aim to i) use DNA/RNA high throughput sequencing to identify new monoallelically expressed and imprinted genes in day 135 ovine fetuses and ii) determine whether maternal diet (100%, 60%, or 140% of National Research Council Total Digestible Nutrients) influences expression of imprinted genes...
2018: Epigenetics: Official Journal of the DNA Methylation Society
Santiago Candela, María Isabel Vanegas, Alejandra Darling, Juan Darío Ortigoza-Escobar, Mariana Alamar, Jordi Muchart, Alejandra Climent, Enrique Ferrer, Jordi Rumià, Belén Pérez-Dueñas
OBJECTIVE: The purpose of this study was to verify the safety and accuracy of the Neuromate stereotactic robot for use in deep brain stimulation (DBS) electrode implantation for the treatment of hyperkinetic movement disorders in childhood and describe the authors' initial clinical results. METHODS: A prospective evaluation of pediatric patients with dystonia and other hyperkinetic movement disorders was carried out during the 1st year after the start-up of a pediatric DBS unit in Barcelona...
October 2018: Journal of Neurosurgery. Pediatrics
Emmanuel Roze, Anthony E Lang, Marie Vidailhet
PURPOSE OF REVIEW: The present study will highlight recent advances in the field of myoclonus-dystonia with a focus on clinical aspects, pathogenesis, and treatment. We will also discuss genetics, classification issues, and diagnostic criteria. RECENT FINDINGS: Myoclonus-dystonia is a clinical syndrome corresponding to the phenotype linked to SGCE, the main causative gene. Childhood-onset myoclonus that predominates over dystonia with prominent upper body involvement, an absence of truncal dystonia, associated anxiety or compulsivity, and a positive family history are helpful diagnostic clues...
August 2018: Current Opinion in Neurology
Jun Ma, Lin Wang, Ying-Mai Yang, Xin-Hua Wan
BACKGROUND: Dystonia is a movement disorder with high clinical and genetic heterogeneity. Molecular diagnosis is important for an accurate diagnosis of dystonia. Targeted gene capture sequencing has been an effective method for screening multiple candidate genes simultaneously. This method, however, has been rarely reported to be used with dystonia patients. OBJECTIVES AND METHODS: To assess the effectiveness of the targeted gene capture sequencing in dystonia, we performed custom target gene capture followed by next-generation sequencing in dystonia patients from China...
July 15, 2018: Journal of the Neurological Sciences
David G Coughlin, Tanya M Bardakjian, Meredith Spindler, Andres Deik
Background: Hereditary myoclonus dystonia is often due to changes in the SGCE gene. Dystonia (DYT)- SGCE has a variable phenotype that can involve focal or generalized myoclonus and various forms of task-specific, segmental, or generalized dystonia. Psychiatric comorbidities are common. Case Report: We report a case of a young woman with generalized myoclonus, dystonia, and intellectual disability. She was found to have a novel SGCE splice site variant. Discussion: This novel variant is very likely pathogenic by in silico analysis and has not been previously reported...
2018: Tremor and Other Hyperkinetic Movements
Dorothee Kübler, Friederike Borngräber, Katja Lohmann, Andrea A Kühn
We present a case of myoclonus-dystonia syndrome illustrated by three videos in which we found a novel SGCE mutation. As the patient described here was suffering from predominant psychiatric comorbidities it took more than 40 years from the first manifestation of the disease until the diagnosis. Having detected the genetically proven cause for his motor and non-motor symptoms was an enormous relief to our patient. We want to share this instructive case in order to prompt neurologists and psychiatrists to look closely at both movement disorders and neuropsychiatric signs in order to diagnose and treat patients to the latest standard...
April 2018: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
Yang-Yang Zhou, Yan-Ting Kang, Chao Chen, Fan-Fan Xu, Hao-Nan Wang, Rong Jin
Due to the complexity and heterogeneity of gastric cancer (GC) in individual patient, current staging system is inadequate for predicting outcome of GC. Comprehensive computational and bioinformatics approach may triumph for the prediction. In this study, GC patients were devided according to stage and treatment: curative surgery plus chemoradiotherapy in stage II, curative surgery plus chemoradiotherapy in stages III, and IV, unresectable metastatic gastric cancer. The training sets were downloaded from GEO datasets (GSE26253 and GSE14208)...
April 2018: Journal of Cellular Biochemistry
Anne Weissbach, Elisa Werner, Julien F Bally, Sinem Tunc, Sebastian Löns, Dagmar Timmann, Kirsten E Zeuner, Vera Tadic, Norbert Brüggemann, Anthony Lang, Christine Klein, Alexander Münchau, Tobias Bäumer
OBJECTIVE: To characterize neurophysiological subcortical abnormalities in myoclonus-dystonia and their modulation by alcohol administration. METHODS: Cerebellar associative learning and basal ganglia-brainstem interaction were investigated in 17 myoclonus-dystonia patients with epsilon-sarcoglycan (SGCE) gene mutation and 21 age- and sex-matched healthy controls by means of classical eyeblink conditioning and blink reflex recovery cycle before and after alcohol intake resulting in a breath alcohol concentration of 0...
October 2017: Annals of Neurology
M Maltese, G Martella, P Imbriani, Jeroen Schuermans, Karolien Billion, G Sciamanna, Febin Farook, G Ponterio, A Tassone, M Santoro, P Bonsi, A Pisani, Rose E Goodchild
Striatal dysfunction is implicated in many movement disorders. However, the precise nature of defects often remains uncharacterized, which hinders therapy development. Here we examined striatal function in a mouse model of the incurable movement disorder, myoclonus dystonia, caused by SGCE mutations. Using RNAseq we found surprisingly normal gene expression, including normal levels of neuronal subclass markers to strongly suggest that striatal microcircuitry is spared by the disease insult. We then functionally characterized Sgce mutant medium spiny projection neurons (MSNs) and cholinergic interneurons (ChIs)...
December 2017: Neurobiology of Disease
Noriko Koide, Sumito Dateki, Kiyoko Watanabe, Hiroyuki Moriuchi
No abstract text is available yet for this article.
September 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
Ji-Young Kim, Woong-Woo Lee, Chae Won Shin, Han-Joon Kim, Sung-Sup Park, Sun Ju Chung, Jin Whan Cho, Ho-Sung Ryu, Tae Ok Son, Beomseok Jeon
INTRODUCTION: Among myoclonus-dystonia syndrome (MD) patients, psychiatric disorders including depression, anxiety, alcohol dependence, obsessive-compulsive disorder (OCD) and panic disorder have been frequently reported to be related with the epsilon-sarcoglycan gene (SGCE) mutation. However, the rate of psychiatric disorders has not been compared between MD patients with the SGCE mutation (SGCE (+)) and without the SGCE mutation (SGCE (-)). We analyzed the psychiatric data in both SGCE (+) and SGCE (-) MD patients to determine the association of the SGCE mutation with psychiatric disorders in MD...
September 2017: Parkinsonism & related Disorders
S E Benjamin Neelon, A J White, A C Vidal, J M Schildkraut, A P Murtha, S K Murphy, S W Kullman, C Hoyo
BACKGROUND/OBJECTIVE: Vitamin D deficiency during pregnancy is associated with poor birth outcomes in some studies, but few have examined weight beyond birth. In addition, little is known about how vitamin D influences DNA methylation of regulatory regions known to be involved in growth, as possible mediators to weight status in offspring. SUBJECTS/METHODS: We conducted linear regressions to assess maternal plasma 25-hydroxyvitamin D (25(OH)D) by quartile and birth weight for gestational age z-score, 1-year weight-for-length z-score and 3-year body mass index (BMI) z-score among 476 mother/infant dyads from a prospective cohort...
April 2018: International Journal of Obesity: Journal of the International Association for the Study of Obesity
Masahiro Kaneda, Masashi Takahashi, Ken-Ichi Yamanaka, Koji Saito, Masanori Taniguchi, Satoshi Akagi, Shinya Watanabe, Takashi Nagai
Although more than 100 imprinted genes have already been identified in the mouse and human genomes, little is known about genomic imprinting in cattle. For a better understanding of these genes in cattle, parthenogenetically activated bovine blastocysts were transferred to recipient cows to obtain parthenotes, and fibroblasts derived from a Day 40 (Day 0 being the day of parthenogenetic activation) parthenogenetic embryo (BpEFs) were successfully obtained. Bovine embryonic fibroblasts (BEFs) were also isolated from a normal fertilized embryo obtained from an artificially inseminated cow...
August 19, 2017: Journal of Reproduction and Development
Katja Lohmann, Christine Klein
Mainly due to the advent of next-generation sequencing (NGS), the field of genetics of dystonia has rapidly grown in recent years, which led to the discovery of a number of novel dystonia genes and the development of a new classification and nomenclature for inherited dystonias. In addition, new findings from both in vivo and in vitro studies have been published on the role of previously known dystonia genes, extending our understanding of the pathophysiology of dystonia. We here review the current knowledge and recent findings in the known genes for isolated dystonia TOR1A, THAP1, and GNAL as well as for the combined dystonias due to mutations in GCH1, ATP1A3, and SGCE...
March 2017: Current Neurology and Neuroscience Reports
Karen Grütz, Philip Seibler, Anne Weissbach, Katja Lohmann, Francesca A Carlisle, Derek J Blake, Ana Westenberger, Christine Klein, Anne Grünewald
In neuropathology research, induced pluripotent stem cell (iPSC)-derived neurons are considered a tool closely resembling the patient brain. Albeit in respect to epigenetics, this concept has been challenged. We generated iPSC-derived cortical neurons from myoclonus-dystonia patients with mutations (W100G and R102X) in the maternally imprinted ε-sarcoglycan (SGCE) gene and analysed properties such as imprinting, mRNA and protein expression. Comparison of the promoter during reprogramming and differentiation showed tissue-independent differential methylation...
February 3, 2017: Scientific Reports
Jianfeng Xiao, Satya R Vemula, Yi Xue, Mohammad M Khan, Francesca A Carlisle, Adrian J Waite, Derek J Blake, Ioannis Dragatsis, Yu Zhao, Mark S LeDoux
Loss-of-function mutations in SGCE, which encodes ε-sarcoglycan (ε-SG), cause myoclonus-dystonia syndrome (OMIM159900, DYT11). A "major" ε-SG protein derived from CCDS5637.1 (NM_003919.2) and a "brain-specific" protein, that includes sequence derived from alternative exon 11b (CCDS47642.1, NM_001099400.1), are reportedly localized in post- and pre-synaptic membrane fractions, respectively. Moreover, deficiency of the "brain-specific" isoform and other isoforms derived from exon 11b may be central to the pathogenesis of DYT11...
February 2017: Neurobiology of Disease
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"