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Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly
, 2017 X-linked Dystonia-Parkinsonism (XDP) is a Mendelian neurodegenerative disease endemic to the Philippines. We integrated genome and transcriptome assembly with induced pluripotent stem cell-based modeling to identify the XDP causal locus and potential ...Yechiam Sapir, Caroline Antolik, Michael E. Talkowski, Naoto Ito, Ryan L. Collins, D. Cristopher Bragg, David Shin, Criscely Go, William Hendriks, Alexei Stortchevoi, Rachita Yadav, Christine A. Vaine, Benjamin Currall, Xandra O. Breakefield, Jyotsna Dhakal, David Jaffe, Brian J. Wainger, Daniel Henderson, Neil Weisenfeld, Nutan Sharma, Carrie Hanscom, Harrison Brand, Ashok Ragavendran, Marisela Dy, Laurie J. Ozelius, Tatsiana Aneichyk, Patrick Acuna, Dadi Gao +27 morecore +1 more sourceFibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort
Annals of Neurology, Volume 99, Issue 6, Page 1363-1378, June 2026.Objective
Genomic sequencing leaves >50% of dystonia‐affected individuals without a diagnosis. Where DNA‐oriented approaches remain insufficient, integrating multiomics is essential to advance genome interpretation. Herein, we incorporated RNA sequencing (RNA‐seq) data from 167 patients with dystonia across a range of ages and presentations. Methods
We Alice Saparov, Ivana Dzinovic, Theresa Brunet, Vicente A. Yépez, Florian Hölzlwimmer, Elisabetta Indelicato, Birgit Assmann, Susann Badmann, Diana Ballhausen, Steffen Berweck, Felix Brechtmann, Melanie Brugger, Kevork Derderian, Felix Distelmaier, Philip Harrer, Denisa Harvanova, Petra Havrankova, Ann‐Kathrin Jaroszynski, Miriam Kolnikova, Robert Kopajtich, Anne Koy, Magdalena Krygier, Lukas Kunc, Katarina Kusikova, Oliver Maier, Maria Mazurkiewicz‐Bełdzińska, Christian Mertes, Ava Oberlack, Timo Roser, Alexandra Sitzberger, Ugo Sorrentino, Antonia M. Stehr, Katharina Vill, Matias Wagner, Holger Prokisch, Sylvia Boesch, Jan Necpal, Robert Jech, Juliane Winkelmann, Elisabeth Graf, Julien Gagneur, Matej Skorvanek, Michael Zech +42 morewiley +1 more sourceA novel family with an unusual early-onset generalized dystonia.
, 2005 We report on an Italian family in which three brothers and their maternal grandfather had a generalized early-onset dystonia with mild parkinsonian signs.Giovanni Fabbrini, Laura Vacca, VALENTE, ENZA MARIA, Angela Meesaq, Sykes, N, Nemeth, A, Francesco Brancati, Bruno Dallapiccola, Dallapiccola, B, Nuala Sykes, Alfredo Berardelli, Fabbrini, G, Vacca, L, Enza Maria Valente, Nemeth, Andrea, Andrea Nemeth, Valente, EM, Berardelli, A., Brancati, F, Meesaq, A, Berardelli, A +20 morecore +3 more sourcesDXS106 and DXS559 flank the X-linked dystonia-parkinsonism syndrome locus (DYT3).
, 1994 The locus (DYT3) underlying the X-linked dystonia-parkinsonism syndrome (XDP) was delineated within proximal Xq12-Xq13.1 by analysis of linkage, allelic association, and haplotypes. Short tandem repeat polymorphisms at loci DXS227, DXS559, DXS453, DXS106,Fairweather, ND, Müller, U, FAIRWEATHER, N, Wagner, T, Haberhausen, G, Chelly, J, Monaco, Anthony, Fairweather, Nicholas, MONACO, A, Chelly, Jamel, Haberhausen, Gerd, Müller, Ulrich, Wagner, Torsten +12 morecore +1 more sourceLong-Term Outcomes of Bilateral Pallidal Deep Brain Stimulation for X-Linked Dystonia and Parkinsonism.
, 2018 BACKGROUND: X-linked dystonia parkinsonism (XDP) causes adult-onset progressive dystonia and parkinsonism, which may not respond to pharmacotherapy.
OBJECTIVE: Previous case reports have reported beneficial effects from bilateral pallidal (GPi) deep ...Witt, Jennifer, Glass, Graham A, Heath, Susan, Galifianakis, Nicholas B, Starr, Philip A, Volz, Monica, Ostrem, Jill Louise, Kilbane, Camilla +7 morecore Reduced Neuron-Specific Expression of the TAF1 Gene Is Associated with X-Linked Dystonia-Parkinsonism
, 2007 X-linked dystonia-parkinsonism (XDP) is a movement disorder endemic to the Philippines. The disease locus, DYT3, has been mapped to Xq13.1. In a search for the causative gene, we performed genomic sequencing analysis, followed by expression analysis of ...Tabuena, Ma. Daisy, Tomizawa, Maiko, Matsumoto, Shinnichi, Tooyama, Ikuo, Kaji, Ryuji, Ando, Satoshi, Maranon, Elma, Makino, Satoshi, Dantes, Marita, Ogasawara, Kazumasa, Goto, Satoshi, Lee, Lillian V., Nishimura, Masataka, Tamiya, Gen, Yasuno, Katsuhito, Akatsu, Hiroyasu +15 morecore +1 more sourceAssociation of Pallidal Neurostimulation and Outcome Predictors With X-linked Dystonia Parkinsonism. [PDF]
JAMA Neurol, 2019 ImportanceAnecdotal evidence suggests that deep brain stimulation (DBS) of the internal globus pallidus (GPi) is effective in ameliorating dystonia in X-linked dystonia parkinsonism (XDP), a disease that is usually refractive to medical therapy.ObjectiveTo determine the efficacy of GPi-DBS in a cohort of patients with XDP in a prospective study and ...Brüggemann N, Domingo A, Rasche D, Moll CKE, Rosales RL, Jamora RDG, Hanssen H, Münchau A, Graf J, Weissbach A, Tadic V, Diesta CC, Volkmann J, Kühn A, Münte TF, Tronnier V, Klein C. +16 moreeuropepmc +3 more sourcesThe roles of TAF1 in neuroscience and beyond
Royal Society Open ScienceThe transcriptional machinery is essential for gene expression and regulation; dysregulation of transcription can result in a range of pathologies, including neurodegeneration, cancer, developmental disorders and cardiovascular disease.Elisa M. Crombie, Karen Cleverley, H. T. Marc Timmers, Elizabeth M. C. Fisher +3 moredoaj +1 more sourceDifferential Effect of Helicobacter pylori Eradication on Time-Trends in Brady/Hypokinesia and Rigidity in Idiopathic Parkinsonism
, 2010 Background: We examine the effect of eradicating Helicobacter in idiopathic parkinsonism (IP). Marked deterioration, where eradication-therapy failed, prompted an interim report in the first 20 probands to reach de-blinding.Bjarnason, IT, Lawson, Andrew J., Dobbs, RJ, Dobbs, R. John, Lucy Harbin, Ibrahim, Mohammad A. A.; id_orcid, Peterson, Dale W., Ibrahim, MA, J. Malcolm Plant, Smee, Cori, Daniel Leckstroem, Plant, JM, Charlett, A, Harbin, Lucy, Lawson, AJ, Bowthorpe, James, Ingvar T. Bjarnason, Mohammad A. A. Ibrahim, Price, AB, André Charlett, Clive Weller, Smee, C, Dobbs, Sylvia M., James Bowthorpe, Dale W. Peterson, Letley, Darren, Leckstroem, Daniel, Charlett, Andre, Weller, C, Andrew J. Lawson, Dobbs, SM, R. John Dobbs, Harbin, L, Letley, D, Price, Ashley B., Bjarnason, Ingvar T., Peterson, DW, Norman L. Oxlade, Weller, Clive, Bowthorpe, J, Ashley B. Price, Oxlade, NL, Oxlade, Norman L., Sylvia M. Dobbs, Plant, J. Malcolm, Darren Letley, Leckstroem, D, Cori Smee +47 morecore +1 more source
