Results 21 to 30 of about 7,623,875 (163)

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

Proteomic analysis of X-linked dystonia parkinsonism disease striatal neurons reveals altered RNA metabolism and splicing [PDF]

Neurobiology of Disease
Summary: X-linked dystonia-parkinsonism (XDP) is a rare neurodegenerative disease endemic to the Philippines. The genetic cause for XDP is an insertion of a SINE-VNTR-Alu (SVA)-type retrotransposon within intron 32 of TATA-binding protein associated ...
Kizito-Tshitoko Tshilenge, Joanna Bons, Carlos Galicia Aguirre, Cristian Geronimo-Olvera, Samah Shah, Jacob Rose, Akos A. Gerencser, Sally K. Mak, Michelle E. Ehrlich, D. Cristopher Bragg, Birgit Schilling, Lisa M. Ellerby   +11 more
doaj   +2 more sources

Validation of a Questionnaire for Distinguishing X-Linked Dystonia Parkinsonism From Its Mimics [PDF]

Frontiers in Neurology, 2018
Objectives: X-linked dystonia parkinsonism (XDP) is a neurodegenerative movement disorder endemic to the island of Panay in the Philippines. We undertook a population-based prevalence study to enumerate all cases of XDP in Panay.
Jose Danilo B. Diestro, Mark Angelo C. Ang, Mark Willy L. Mondia, Paul Matthew D. Pasco   +3 more
doaj   +2 more sources

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

Brain Commun, 2023
This scientific commentary refers to ‘Establishing a natural history of X-linked dystonia parkinsonism’, by Acuna et al.
Haq I, Brashear A.
europepmc   +2 more sources

Establishing a natural history of X-linked dystonia parkinsonism. [PDF]

Brain Commun, 2023
Abstract X-linked dystonia parkinsonism is a neurodegenerative movement disorder that affects men whose mothers originate from the island of Panay, Philippines. Current evidence indicates that the most likely cause is an expansion in the TAF1 gene that may be amenable to treatment. To prepare for clinical trials of therapeutic candidates
Acuna P, Supnet-Wells ML, Spencer NA, de Guzman JK, Russo M, Hunt A, Stephen C, Go C, Carr S, Ganza NG, Lagarde JB, Begalan S, Multhaupt-Buell T, Aldykiewicz G, Paul L, Ozelius L, Bragg DC, Perry B, Green JR, Miller JW, Sharma N.   +20 more
europepmc   +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 ...
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   +2 more sources

X-linked dystonia-parkinsonism: over and above a repeat disorder. [PDF]

Med Genet, 2021
Abstract X-linked dystonia-parkinsonism (XDP) is an adult-onset neurodegenerative movement disorder, caused by a founder retrotransposon insertion in an intron of the TAF1 gene. This insertion contains a polymorphic hexanucleotide repeat (CCCTCT)n, the length of which inversely correlates with the age at disease onset (AAO) and other ...
Pozojevic J, Cruz JN, Westenberger A.
europepmc   +4 more sources

Correction to: Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat [PDF]

Acta Neuropathologica Communications, 2022
Lindsey N. Campion, Alan Mejia 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   +2 more sources

Progressive Decline in Voice and Voice-Related Quality of Life in X-Linked Dystonia Parkinsonism [PDF]

Journal of Voice, 2023
Sungjin A Song, Nutan Sharma, Phillip C Song   +2 more
exaly   +2 more sources

X-Linked Dystonia-Parkinsonism: recent advances. [PDF]

Curr Opin Neurol, 2019
Purpose of review Our understanding of X-Linked Dystonia-Parkinsonism (XDP) has advanced considerably in recent years because of a wealth of new data describing its genetic basis, cellular phenotypes, neuroimaging features, and response to deep brain stimulation (DBS). This review provides a concise summary of these studies.
Bragg DC, Sharma N, Ozelius LJ.
europepmc   +4 more sources