Results 11 to 20 of about 7,620,483 (116)

Clinicopathological Phenotype and Genetics of X-Linked Dystonia–Parkinsonism (XDP; DYT3; Lubag) [PDF]

Brain Sciences, 2017
X-linked dystonia–parkinsonism (XDP; OMIM314250), also referred to as DYT3 dystonia or “Lubag” disease, was first described as an endemic disease in the Philippine island of Panay.
Toshitaka Kawarai, Ryoma Morigaki, Ryuji Kaji, Satoshi Goto   +3 more
doaj   +3 more sources

Validation of the XDP–MDSP rating scale for the evaluation of patients with X-linked dystonia-parkinsonism

npj Parkinson's Disease, 2017
Disease rating scale: Adressing a Philippine problem Researchers validate a tool to assess patients with X-linked dystonia parkinsonism (XDP), a movement disorder that affects men of Filipino descent.
Paul Matthew D. Pasco, Roland Dominic G. Jamora, Raymond L. Rosales, Cid Czarina E. Diesta, Arlene R. Ng, Rosalia A. Teleg, Criscely L. Go, Lillian Lee, Hubert H. Fernandez   +8 more
doaj   +2 more sources

Increased insula-putamen connectivity in X-linked dystonia-parkinsonism

NeuroImage: Clinical, 2018
Preliminary evidence from postmortem studies of X-linked dystonia-parkinsonism (XDP) suggests tissue loss may occur first and/or most severely in the striatal striosome compartment, followed later by cell loss in the matrix compartment.
Anne J. Blood, Jeff L. Waugh, Thomas F. Münte, Marcus Heldmann, Aloysius Domingo, Christine Klein, Hans C. Breiter, Lillian V. Lee, Raymond L. Rosales, Norbert Brüggemann   +9 more
doaj   +2 more sources

SVA insertion in X-linked Dystonia Parkinsonism alters histone H3 acetylation associated with TAF1 gene.

PLoS ONE, 2020
X-linked Dystonia-Parkinsonism (XDP) is a neurodegenerative disease linked to an insertion of a SINE-VNTR-Alu (SVA)-type retrotransposon within an intron of TAF1.
Tiziana Petrozziello, Amanda M Dios, Kaly A Mueller, Christine A Vaine, William T Hendriks, Kelly E Glajch, Alexandra N Mills, Kotchaphorn Mangkalaphiban, Ellen B Penney, Naoto Ito, Cara Fernandez-Cerado, Gierold Paul A Legarda, M Salvie Velasco-Andrada, Patrick J Acuña, Mark A Ang, Edwin L Muñoz, Cid Czarina E Diesta, Regina Macalintal-Canlas, Geraldine Acuña, Nutan Sharma, Laurie J Ozelius, D Cristopher Bragg, Ghazaleh Sadri-Vakili   +22 more
doaj   +2 more sources

X-Linked Parkinsonism: Phenotypic and Genetic Heterogeneity. [PDF]

, 2021
X-linked parkinsonism encompasses rare heterogeneous disorders mainly inherited as a recessive trait, therefore being more prevalent in males. Recent developments have revealed a complex underlying panorama, including a spectrum of disorders in which ...
Pisani, A, Valente, Enza M, Di Lazzaro, G, Di Lazzaro, Giulia, Magrinelli, F, Estevez-Fraga, C, Bhatia, KP, Pisani, Antonio, Valente, EM, Bhatia, Kailash P, Estevez-Fraga, Carlos, Magrinelli, Francesca, Pisani A., Magrinelli F., Estevez-Fraga C., Valente E. M., Bhatia K. P., Di Lazzaro G.   +17 more
core   +3 more sources

The vital role of natural history studies in rare disease: insights from X-linked dystonia parkinsonism

, 2023
This scientific commentary refers to ‘Establishing a natural history of X-linked dystonia parkinsonism’, by Acuna et al.
Brashear, Allison, Haq, Ihtsham
core   +1 more source

levels in X‐linked dystonia‐parkinsonism [PDF]

, 2018
Background: The most likely genetic cause of X‐linked dystonia‐parkinsonism, a neurodegenerative movement disorder endemic to the Philippines, is a 2672‐bp‐long retrotransposon insertion in intron 32 of the TAF1 gene. The objectives of this study were to
Sally A. Cowley, Norbert Brüggemann, Philipp Capetian, Insa Lenz, Karen Grütz, Ana Westenberger, Inke König, Arndt Rolfs, Dominic Jamora, Aleksandar Rakovic, Raymond Rosales, Christine Klein, Philip Seibler, Aloysius Domingo, Leonora Kulikovskaja   +14 more
core   +1 more source

Pallidal Deep Brain Stimulation for Monogenic Dystonia: The Effect of Gene on Outcome

Frontiers in Neurology, 2021
Globus pallidus internus deep brain stimulation (GPi DBS) is the most effective intervention for medically refractory segmental and generalized dystonia in both children and adults.
Stephen Tisch, Kishore Raj Kumar, Kishore Raj Kumar   +2 more
doaj   +1 more source

Bilateral pallidal stimulation for X-linked dystonia parkinsonism

, 2010
Objective: To report the clinical benefits of bilateral deep brain stimulation (DBS) of the globus pallidus internus (GPi) in a patient with X-linked dystonia parkinsonism (XDP). Design: Case report. Setting: Tertiary referral center.
Adams, John R., Lim, Shen-Yang, Wadia, Pettarusp M., Moro, Elena, Poon, Yu-Yan, Diaz, Cristina Torres, Lozano, Andres M.   +6 more
core   +3 more sources

Association Study of TAF1 Variants in Parkinson’s Disease

Frontiers in Neuroscience, 2022
Increasing evidence reveals sex as an important factor in the development of Parkinson’s disease (PD), but associations between genes on the sex chromosomes and PD remain unknown.
Qian Zeng, Hongxu Pan, Yuwen Zhao, Yige Wang, Qian Xu, Jieqiong Tan, Xinxiang Yan, Jinchen Li, Jinchen Li, Jinchen Li, Beisha Tang, Beisha Tang, Beisha Tang, Beisha Tang, Jifeng Guo, Jifeng Guo, Jifeng Guo, Jifeng Guo, Jifeng Guo   +18 more
doaj   +1 more source