Results 21 to 30 of about 7,620,483 (116)

Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat

Acta Neuropathologica Communications, 2022
X-linked dystonia-parkinsonism (XDP) is a progressive adult-onset neurodegenerative disorder caused by insertion of a SINE-VNTR-Alu (SVA) retrotransposon in the TAF1 gene.
Lindsey N. Campion, Alan Meijia Maza, Rachita Yadav, Ellen B. Penney, Micaela G. Murcar, Kevin Correia, Tammy Gillis, Cara Fernandez-Cerado, M. Salvie Velasco-Andrada, G. Paul Legarda, Niecy G. Ganza-Bautista, J. Benedict B. Lagarde, Patrick J. Acuña, Trisha Multhaupt-Buell, Gabrielle Aldykiewicz, Melanie L. Supnet, Jan K. De Guzman, Criscely Go, Nutan Sharma, Edwin L. Munoz, Mark C. Ang, Cid Czarina E. Diesta, D. Cristopher Bragg, Laurie J. Ozelius, Vanessa C. Wheeler   +24 more
doaj   +1 more source

Development of parkinsonism after long-standing cervical dystonia – A cohort [PDF]

, 2021
INTRODUCTION: Dystonia occurring in the context of parkinsonism is well-known, e.g. as foot dystonia in young-onset Parkinson's disease (PD), anterocollis in multisystem atrophy (MSA) or blepharospasm (levator inhibition) in progressive supranuclear ...
Di Lazarro, G, Gövert, F, Bhatia, KP, Erro, R, Mulroy, E, Holton, JL, Batla, A, Balint, B, Miki, Y, Warner, TT, Latorre, A   +10 more
core   +3 more sources

Transcriptional Alterations in X-Linked Dystonia–Parkinsonism Caused by the SVA Retrotransposon

, 2022
X-linked dystonia–parkinsonism (XDP) is a severe neurodegenerative disorder that manifests as adult-onset dystonia combined with parkinsonism. A SINE-VNTR-Alu (SVA) retrotransposon inserted in an intron of the TAF1 gene reduces its expression and ...
Norbert Brüggemann, Roland Dominic G. Jamora, Cid Czarina E. Diesta, Susen Schaake, Malte Spielmann, Karen Grütz, Frank J. Kaiser, Ana Westenberger, Ronnie Tse, Joseph Neos Cruz, Jelena Pozojevic, Raymond L. Rosales, Markus Glatzel, Veronica Yumiceba, Henriette Kirchner, Jakob Matschke, Joanne Trinh, Shela Marie Algodon, Varun K. A. Sreenivasan, Kristin Schulz, Joshua Laß, Aleksandar Rakovic, Christine Klein, Nathalie Kruse, Philip Seibler, Kristian Händler   +25 more
core   +1 more source

Cost-Analysis of the Different Treatment Modalities in X-Linked Dystonia–Parkinsonism

Frontiers in Neurology, 2019
Background: X-linked dystonia-parkinsonism (XDP) is a debilitating disease endemic in the Philippines. Several oral medications as well as botulinum toxin A (BoNT-A) injection and deep brain stimulation (DBS) surgery appear to be the cornerstone of ...
Ranhel C. De Roxas, Roland Dominic G. Jamora, Roland Dominic G. Jamora   +2 more
doaj   +1 more source

Phenomenology of "Lubag" or X-linked dystonia-parkinsonism

, 2002
X-linked dystonia-parkinsonism (XDP), or Lubag syndrome, is known to cause progressive dystonia, with or without parkinsonism, among Filipino male adults with maternal roots from the Philippine island of Panay.
Esteban, Raymund, Cuanang, Joven, Pasco, Paul, Hernandez, Dena, Singleton, Andrew, San Luis, Amado, Gwinn-Hardy, Katrina, Alfon, Jhoe Anthony, Advincula, Joel, Natividad, Filipinas F., Evidente, Virgilio Gerald, Hardy, John   +11 more
core   +1 more source

Depression in X-linked dystonia-parkinsonism: A case-control study [PDF]

, 2013
X-linked dystonia-parkinsonism (XDP), also known as lubag, was originally described as endemic to Panay, Philippines [ [1] ]. XDP demonstrates a primary and progressive neuronal degeneration of the striatum and is characterized by an adult-onset movement
Nakataki, Masahito, Morigaki, Ryoma, Mure, Hideo, Ohmori, Tetsuro, Teleg, Rosalia A., Kawarai, Toshitaka, Tabuena, Ma. Daisy P., Kaji, Ryuji, Nagahiro, Shinji, Pasco, Paul Matthew D., Goto, Satoshi, Lee, Lillian V., Iga, Junichi, Sako, Wataru   +13 more
core   +1 more source

Psychomotor impairments and therapeutic implications revealed by a mutation associated with infantile Parkinsonism-Dystonia

eLife, 2021
Parkinson disease (PD) is a progressive, neurodegenerative disorder affecting over 6.1 million people worldwide. Although the cause of PD remains unclear, studies of highly penetrant mutations identified in early-onset familial parkinsonism have ...
Jenny I Aguilar, Mary Hongying Cheng, Josep Font, Alexandra C Schwartz, Kaitlyn Ledwitch, Amanda Duran, Samuel J Mabry, Andrea N Belovich, Yanqi Zhu, Angela M Carter, Lei Shi, Manju A Kurian, Cristina Fenollar-Ferrer, Jens Meiler, Renae Monique Ryan, Hassane S Mchaourab, Ivet Bahar, Heinrich JG Matthies, Aurelio Galli   +18 more
doaj   +1 more source

Differential Response of Dystonia and Parkinsonism following Globus Pallidus Internus Deep Brain Stimulation in X-Linked Dystonia-Parkinsonism (Lubag)

, 2010
<i>Background:</i> X-linked dystonia-parkinsonism (XDP; DYT3; Lubag) is an adult-onset hereditary progressive dystonia/parkinsonism which is typically minimally responsive to pharmacological treatment.
Pam Zeilman, Charles E. Jacobson, IV, Genko Oyama, Ramon L. Rodriguez, Irene A. Malaty, Hubert H. Fernandez, Kelly D. Foote, Nelson Hwynn, Michael S. Okun   +8 more
core   +1 more source

Non-invasive detection of allele-specific CRISPR-SaCas9-KKH disruption of TOR1A DYT1 allele in a xenograft mouse model

Molecular Therapy: Nucleic Acids
DYT1 dystonia is a neurological movement disorder characterized by a dominant 3-base pair deletion (ΔGAG) in the TOR1A gene. This study demonstrates a gene-editing approach that selectively targets the ΔGAG mutation in the TOR1A DYT1 allele while ...
Katia E. Maalouf, Dawn Madison Frederick, Nutan Sharma, Edwina Abou Haidar, Tianhe Xiao, Justin Seungkyu Han, Mohammed S. Mahamdeh, Roy J. Soberman, David Rufino-Ramos, Benjamin P. Kleinstiver, Hyder A. Jinnah, Christine A. Vaine, D. Cristopher Bragg, Koen Breyne   +13 more
doaj   +1 more source

The Genetic Landscape of Parkinsonism-Related Dystonias and Atypical Parkinsonism-Related Syndromes

, 2021
In recent decades, genetic research has nominated promising pathways and biological insights contributing to the etiological landscape of parkinsonism-related dystonias and atypical parkinsonism-related syndromes.
Joos Berghausen, Pilar Alvarez Jerez, Sara Bandres-Ciga, Monica Diez-Fairen   +3 more
core   +1 more source