Correction of the molecular phenotype of X-linked Dystonia-Parkinsonism reveals a non-canonical function of BRD4 [PDF]
Nature CommunicationsTranscription and mRNA processing are tightly coupled regulatory layers on gene expression, and their perturbations underly human disorders. X-linked Dystonia-Parkinsonism (XDP) is a unique example of a human disease connecting aberrant mRNA processing ...
Simona Capponi +9 more
doaj +2 more sources
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 +8 more
doaj +2 more sources
Cost-Analysis of the Different Treatment Modalities in X-Linked Dystonia–Parkinsonism [PDF]
Frontiers in Neurology, 2019 Background: X-linked dystonia-parkinsonism (XDP) is a debilitating disease endemic in the Philippines. Several oral medications as well as botulinum toxin A (BoNT-A) injection and deep brain stimulation (DBS) surgery appear to be the cornerstone of ...
Ranhel C. De Roxas +2 more
doaj +2 more sources
Proteomic analysis of X-linked dystonia parkinsonism disease striatal neurons reveals altered RNA metabolism and splicing [PDF]
Neurobiology of DiseaseSummary: 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 +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 +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 +20 more
europepmc +3 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 +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 +2 more
exaly +2 more sources