Results 11 to 20 of about 7,564,623 (164)

Increased insula-putamen connectivity in X-linked dystonia-parkinsonism [PDF]

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   +7 more sources

X-Linked Dystonia Parkinsonism: Clinical Phenotype, Genetics and Therapeutics [PDF]

Journal of Movement Disorders, 2010
The clinical phenotype of X-Linked Dystonia Parkinsonism (XDP) is typically one that involves a Filipino adult male whose ancestry is mostly traced in the Philippine island of Panay.
Raymond L. Rosales
doaj   +4 more sources

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   +5 more sources

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

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   +3 more sources

Transcriptional Alterations in X-Linked Dystonia-Parkinsonism Caused by the SVA Retrotransposon. [PDF]

Int J Mol Sci, 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 alters splicing in XDP patient-derived cells.
Pozojevic J, Algodon SM, Cruz JN, Trinh J, Brüggemann N, Laß J, Grütz K, Schaake S, Tse R, Yumiceba V, Kruse N, Schulz K, Sreenivasan VKA, Rosales RL, Jamora RDG, Diesta CCE, Matschke J, Glatzel M, Seibler P, Händler K, Rakovic A, Kirchner H, Spielmann M, Kaiser FJ, Klein C, Westenberger A.   +25 more
europepmc   +5 more sources

Bilateral Pallidal Stimulation for X-Linked Dystonia Parkinsonism [PDF]

Archives of Neurology, 2010
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).Case report.Tertiary referral center. Patient A 40-year-old Filipino man with genetically confirmed XDP and severely disabling generalized dystonia.
Pettarusp M, Wadia, Shen-Yang, Lim, Andres M, Lozano, John R, Adams, Yu-Yan, Poon, Cristina V, Torres Diaz, Cristina Torres, Diaz, Elena, Moro   +7 more
openaire   +4 more sources

Motor assessment of X-linked dystonia parkinsonism via machine-learning-based analysis of wearable sensor data [PDF]

Scientific Reports
X-linked dystonia parkinsonism (XDP) is a neurogenetic combined movement disorder involving both parkinsonism and dystonia. Complex, overlapping phenotypes result in difficulties in clinical rating scale assessment.
Federico Parisi, Giulia Corniani, Paolo Bonato, David Balkwill, Patrick Acuna, Criscely Go, Nutan Sharma, Christopher D. Stephen   +7 more
doaj   +2 more sources

Molecular dissection and anatomical basis of dystonia: X-linked recessive dystonia-parkinsonism (DYT3) [PDF]

The Journal of Medical Investigation, 2005
Pathological findings in dystonia have been unclear. X-linked recessive dystonia-parkinsonism (XDP, DYT3), endemic in the Panay island, the Philippines, is characterized by the clinical onset with dystonia followed by parkinsonism. It provides a unique opportunity to explore the anatomical basis of dystonia, because it has discernible pathological ...
Kaji, Ryuji, Goto, Satoshi, Tamiya, Gen, Ando, Satoshi, Makino, Satoshi, Lee, LV   +5 more
openaire   +5 more sources

Alterations in energy production in a Drosophila model for the X-linked dystonia-parkinsonism-related Taf1 deficiency [PDF]

Frontiers in Aging Neuroscience
BackgroundX-linked dystonia-parkinsonism (XDP), an adult-onset neurodegenerative disorder, is caused by an SVA insertion in the TAF1 gene, containing a hexanucleotide, the length of which is correlated to the severity of the disease.
Frida Mandik, Shela Marie Algodon, Philip Seibler, Christine Klein, Melissa Vos   +4 more
doaj   +2 more sources

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

Parkinsonism & Related Disorders, 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
Ryoma, Morigaki, Masahito, Nakataki, Toshitaka, Kawarai, Lillian V, Lee, Rosalia A, Teleg, Ma Daisy P, Tabuena, Hideo, Mure, Wataru, Sako, Paul Matthew D, Pasco, Shinji, Nagahiro, Junichi, Iga, Tetsuro, Ohmori, Satoshi, Goto, Ryuji, Kaji   +13 more
openaire   +3 more sources