Basal Ganglia Atrophy as a Marker for Prodromal X‐Linked Dystonia‐Parkinsonism
Sign Up to like & getrecommendations! Published in 2023 at "Annals of Neurology"
DOI: 10.1002/ana.26606
Abstract: In neurodegenerative diseases, the characterization of the prodromal phase is essential for the future application of disease‐modifying therapies. X‐linked dystonia‐parkinsonism is a hereditary neurodegenerative movement disorder characterized by severe adult‐onset dystonia accompanied by parkinsonism. Distinct… read more here.
Keywords: dystonia parkinsonism; non manifesting; linked dystonia; parkinsonism ... See more keywords
Clinicodemographic and Genetic Modifier Correlation in an X‐Linked Dystonia‐Parkinsonism Cohort from Mindanao
Sign Up to like & getrecommendations! Published in 2024 at "Movement Disorders Clinical Practice"
DOI: 10.1002/mdc3.14193
Abstract: X‐linked dystonia‐parkinsonism (XDP), a neurodegenerative movement disorder endemic to the Philippines, is primarily investigated in patients from Panay Island and the Greater Manila area. However, individuals residing in geographically distant regions may exhibit different clinical… read more here.
Keywords: modifier correlation; genetic modifier; linked dystonia; dystonia parkinsonism ... See more keywords
Prodromal X‐Linked Dystonia‐Parkinsonism is Characterized by a Subclinical Motor Phenotype
Sign Up to like & getrecommendations! Published in 2022 at "Movement Disorders"
DOI: 10.1002/mds.29033
Abstract: Early diagnosis in patients with neurodegenerative disorders is crucial to initiate disease‐modifying therapies at a time point where progressive neurodegeneration can still be modified. read more here.
Keywords: dystonia parkinsonism; linked dystonia; characterized subclinical; parkinsonism characterized ... See more keywords
X-linked dystonia Parkinsonism: crossing a new threshold
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Neural Transmission"
DOI: 10.1007/s00702-021-02324-0
Abstract: X-linked dystonia parkinsonism (XDP) is a neurodegenerative disorder that has received significant interest on several fronts. Although much still remains to be elucidated regarding the disease cause, a robust amount of data has been produced… read more here.
Keywords: linked dystonia; dystonia parkinsonism; disorder; new threshold ... See more keywords
X-linked Dystonia-Parkinsonism patient cells exhibit altered signaling via nuclear factor-kappa B
Sign Up to like & getrecommendations! Published in 2017 at "Neurobiology of Disease"
DOI: 10.1016/j.nbd.2016.12.016
Abstract: X-linked Dystonia-Parkinsonism (XDP) is a progressive neurodegenerative disease involving the loss of medium spiny neurons within the striatum. An XDP-specific haplotype has been identified, consisting of seven sequence variants which cluster around the human TAF1… read more here.
Keywords: linked dystonia; dystonia parkinsonism; control; factor ... See more keywords
Motor assessment of X-linked dystonia parkinsonism via machine-learning-based analysis of wearable sensor data
Sign Up to like & getrecommendations! Published in 2024 at "Scientific Reports"
DOI: 10.1038/s41598-024-63946-4
Abstract: 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. We performed wearable sensor-based analyses in XDP participants to… read more here.
Keywords: dystonia parkinsonism; wearable sensor; sensor data; linked dystonia ... See more keywords
Variation in TAF1 Expression in Female Carrier-Induced Pluripotent Stem Cells and Human Brain Ontogeny Has Implications for Adult Neostriatum Vulnerability in X-Linked Dystonia Parkinsonism
Sign Up to like & getrecommendations! Published in 2022 at "eNeuro"
DOI: 10.1523/eneuro.0129-22.2022
Abstract: Abstract X-linked dystonia-parkinsonism (XDP) is an inherited, X-linked, adult-onset movement disorder characterized by degeneration in the neostriatum. No therapeutics alter disease progression. The mechanisms underlying regional differences in degeneration and adult onset are unknown. Developing… read more here.
Keywords: dystonia parkinsonism; taf1; xdp; linked dystonia ... See more keywords
Corrigendum: Validation of a Questionnaire for Distinguishing X-Linked Dystonia Parkinsonism From Its Mimics
Sign Up to like & getrecommendations! Published in 2018 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2018.00991
Abstract: [This corrects the article DOI: 10.3389/fneur.2018.00830.]. read more here.
Keywords: distinguishing linked; linked dystonia; validation questionnaire; dystonia parkinsonism ... See more keywords
Cost-Analysis of the Different Treatment Modalities in X-Linked Dystonia–Parkinsonism
Sign Up to like & getrecommendations! Published in 2019 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2019.00500
Abstract: 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… read more here.
Keywords: linked dystonia; xdp; dystonia parkinsonism; analysis ... See more keywords
Transcriptional Alterations in X-Linked Dystonia–Parkinsonism Caused by the SVA Retrotransposon
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms23042231
Abstract: 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… read more here.
Keywords: dystonia parkinsonism; transcriptional alterations; linked dystonia; parkinsonism ... See more keywords