Results 11 to 20 of about 3,520 (162)

Dysphagia is a risk factor of malnutrition in X-linked Dystonia-Parkinsonism. [PDF]

Clin Park Relat Disord
Introduction: Malnutrition is a leading cause of death for persons living with X-linked dystonia-parkinsonism (XDP), a degenerative disease endemic to the Philippines.
Kao TH, Gochyyev P, Sharma N, de Guzman JK, Supnet Wells M, Acuna P, Li S, Rowe HP, Perry BJ.   +8 more
europepmc   +4 more sources

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

Movement Disorders, 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.
Virgilio Gerald H Evidente, John Hardy, Andrew Singleton   +2 more
exaly   +4 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   +5 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   +4 more sources

Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism. [PDF]

Nat Commun, 2021
Age at onset of X-linked dystonia-parkinsonism is 50% explained by the length of a repeat in an SVA insert. The authors perform a GWAS for genetic modifiers and discover three more loci, accounting for another 13% of variability in age at onset with the ...
Laabs BH, Klein C, Pozojevic J, Domingo A, Brüggemann N, Grütz K, Rosales RL, Jamora RD, Saranza G, Diesta CCE, Wittig M, Schaake S, Dulovic-Mahlow M, Quismundo J, Otto P, Acuna P, Go C, Sharma N, Multhaupt-Buell T, Müller U, Hanssen H, Kilpert F, Franke A, Rolfs A, Bauer P, Dobričić V, Lohmann K, Ozelius LJ, Kaiser FJ, König IR, Westenberger A.   +30 more
europepmc   +2 more sources

A Cross-Cultural Validation of the Filipino and Hiligaynon Versions of the Parts IIIB (Non-Motor Features) and IV (Activities of Daily Living) of the X-Linked Dystonia-Parkinsonism- MDSP Rating Scale. [PDF]

Clin Park Relat Disord, 2021
Introduction: X-linked dystonia-parkinsonism (XDP) is a progressive movement disorder which also encompasses non-motor features and alterations in activities of daily living.
Santiano RAS, Rosales RL.
europepmc   +2 more sources

Impact of X-linked dystonia-parkinsonism on caregiver strain, anxiety and depression. [PDF]

BMJ Neurol Open
Background X-linked dystonia-parkinsonism (XDP) is a progressive movement disorder that predominantly affects men from the Panay Islands in the Philippines.
Cataniag P, Ong JN, Diesta CC.
europepmc   +2 more sources

Bilateral pallidal stimulation for X-linked dystonia parkinsonism [PDF]

Archives of Neurology, 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, Cristina Torres Diaz, Poon, Yu-Yan, Shen-Yang Lim, Lozano, Andres M., Pettarusp M. Wadia, Elena Moro, Yu-Yan Poon, Wadia, Pettarusp M., Andres M. Lozano, Moro, Elena, Diaz, Cristina Torres, John R. Adams   +13 more
core   +4 more sources

Striatal hyperechogenicity as an ultrasound imaging marker for prodromal X-linked dystonia-parkinsonism. [PDF]

NPJ Parkinsons Dis
X-linked dystonia-parkinsonism (XDP) is a neurodegenerative genetic disorder with striatal pathology. We investigated 138 participants (61 patients with XDP, 19 non-manifesting carriers (NMC), and 58 healthy controls (HC)) with transcranial sonography ...
Pauly MG, Diesta CCE, Cataniag P, Borsche M, Hanssen H, Oropilla JQL, Walter U, Dressler D, Algodon SM, Westenberger A, Klein C, Brüggemann N.   +11 more
europepmc   +2 more sources

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

Front Aging Neurosci
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.
Mandik F, Algodon SM, Seibler P, Klein C, Vos M.   +4 more
europepmc   +2 more sources