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
Loss‐of‐Function Mutations in NR4A2 Cause Dopa‐Responsive Dystonia Parkinsonism
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DOI: 10.1002/mds.27982
Abstract: The group of dystonia genes is expanding, and mutations of these genes have been associated with various combined dystonia syndromes. Among the latter, the cause of some dystonia parkinsonism cases remains unknown. read more here.
Keywords: loss function; cause; function mutations; 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
A Portuguese rapid-onset dystonia-parkinsonism case with atypical features
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DOI: 10.1007/s10072-017-2996-4
Abstract: Dear Editor, Rapid-onset dystonia-parkinsonism (DYT/PARK-ATP1A3, formerly known as DYT12) is a combined dystonia syndrome rarely encountered in clinical practice [1]. Recent reports have expanded the clinical presentation beyond the classical phenotype and there is increasing… read more here.
Keywords: onset dystonia; dystonia parkinsonism; rapid onset; dystonia ... See more keywords
PLA2G6 mutations cause motor dysfunction phenotypes of young-onset dystonia–parkinsonism type 14 and can be relieved by DHA treatment in animal models
Sign Up to like & getrecommendations! Published in 2021 at "Experimental Neurology"
DOI: 10.1016/j.expneurol.2021.113863
Abstract: Parkinson's disease (PD), the most common neurodegenerative motor disorder, is currently incurable. Although many studies have provided insights on the substantial influence of genetic factors on the occurrence and development of PD, the molecular mechanism… read more here.
Keywords: onset dystonia; parkinsonism type; dystonia parkinsonism; pla2g6 mutations ... 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
Rapid-Onset Dystonia-Parkinsonism Phenotype Consistency for a Novel Variant of ATP1A3 in Patients Across 3 Global Populations
Sign Up to like & getrecommendations! Published in 2021 at "Neurology: Genetics"
DOI: 10.1212/nxg.0000000000000562
Abstract: Mutations in ATP1A3, which encodes the α3 subunit of Na, K-ATPase, produce various neurologic and psychological disorders that are increasingly believed to be on a continuum, from severe infantile presentations to adult-onset movement disorders. We… read more here.
Keywords: onset dystonia; rapid onset; dystonia parkinsonism; atp1a3 ... See more keywords
Novel SERAC1 Variant Presenting With Adult-Onset Extrapyramidal Dystonia-Parkinsonism Phenotype
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DOI: 10.1212/nxg.0000000000200067
Abstract: Objectives To report a novel likely pathogenic variant in the SERAC1 gene associated with early adult-onset parkinsonism and progressive dystonia. Methods Clinical, biochemical, and imaging assessments were performed on 2 affected adult brothers with a… read more here.
Keywords: variant; adult onset; dystonia parkinsonism; parkinsonism ... 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
ATP1A3 mutation in rapid-onset dystonia parkinsonism: New data and genotype-phenotype correlation analysis
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Aging Neuroscience"
DOI: 10.3389/fnagi.2022.933893
Abstract: Background Rapid-onset dystonia parkinsonism (RDP) is a rare disease caused by ATP1A3 mutation with considerable clinical heterogeneity. Increased knowledge of RDP could be beneficial in its early diagnosis and treatment. Objective This study aimed to… read more here.
Keywords: dystonia parkinsonism; rapid onset; onset dystonia; mutation ... See more keywords