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
Dysphagia is a risk factor of malnutrition in X-linked Dystonia-Parkinsonism [PDF]
Clinical Parkinsonism & Related DisordersIntroduction: Malnutrition is a leading cause of death for persons living with X-linked dystonia-parkinsonism (XDP), a degenerative disease endemic to the Philippines.
Tabitha H. Kao +8 more
doaj +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 +2 more
exaly +4 more sources
Establishing a natural history of X-linked dystonia parkinsonism [PDF]
Brain Communications, 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
Patrick Acuna +2 more
exaly +4 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]
Clinical Parkinsonism & Related Disorders, 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.
Richelle Ann S. Santiano +1 more
doaj +2 more sources
Impact of X-linked dystonia-parkinsonism on caregiver strain, anxiety and depression [PDF]
BMJ Neurology OpenBackground X-linked dystonia-parkinsonism (XDP) is a progressive movement disorder that predominantly affects men from the Panay Islands in the Philippines.
Paulo Cataniag +2 more
doaj +2 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 +25 more
europepmc +2 more sources
Striatal hyperechogenicity as an ultrasound imaging marker for prodromal X-linked dystonia-parkinsonism [PDF]
npj Parkinson's DiseaseX-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 ...
Martje G. Pauly +11 more
doaj +2 more sources
Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat [PDF]
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 +24 more
doaj +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. +13 more
core +4 more sources