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   Articles with "dystonia parkinsonism" as a keyword



Basal Ganglia Atrophy as a Marker for Prodromal X‐Linked Dystonia‐Parkinsonism

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recommendations! 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

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recommendations! 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

Loss‐of‐Function Mutations in NR4A2 Cause Dopa‐Responsive Dystonia Parkinsonism

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recommendations! Published in 2020 at "Movement Disorders"

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

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recommendations! 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

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recommendations! 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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recommendations! Published in 2017 at "Neurological Sciences"

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
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PLA2G6 mutations cause motor dysfunction phenotypes of young-onset dystonia–parkinsonism type 14 and can be relieved by DHA treatment in animal models

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recommendations! 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

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recommendations! 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

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recommendations! 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

Rapid-Onset Dystonia-Parkinsonism Phenotype Consistency for a Novel Variant of ATP1A3 in Patients Across 3 Global Populations

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recommendations! 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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recommendations! Published in 2023 at "Neurology: Genetics"

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