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.
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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
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Progressive Decline in Voice and Voice-Related Quality of Life in X-Linked Dystonia Parkinsonism [PDF]
Journal of Voice, 2023 Sungjin A Song, Phillip C Song
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X-Linked Dystonia-Parkinsonism: recent advances. [PDF]
Curr Opin Neurol, 2019 Purpose of review Our understanding of X-Linked Dystonia-Parkinsonism (XDP) has advanced considerably in recent years because of a wealth of new data describing its genetic basis, cellular phenotypes, neuroimaging features, and response to deep brain stimulation (DBS). This review provides a concise summary of these studies.
Bragg DC, Sharma N, Ozelius LJ.
europepmc +4 more sources
The Effect of Glucocorticoids on TAF1 Gene Transcription in X-linked Dystonia Parkinsonism. [PDF]
J ASEAN Fed Endocr Soc, 2023 X-linked Dystonia Parkinsonism (XDP) is associated with a SINE-VNTR- Alu (SVA) retrotransposon insertion in an intron of the TAF1 gene that alters gene transcription and splicing. In this study, we determined if the SVA insertion introduces glucocorticoid (GC)-responsive cis-regulatory elements that may contribute to dysregulated TAF1 transcription and
Cruz SED, Bagamasbad P.
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Targeting Myeloperoxidase to Reduce Neuroinflammation in X-Linked Dystonia Parkinsonism. [PDF]
CNS Neurosci TherABSTRACT Aims Although the genetic locus of X‐linked dystonia parkinsonism (XDP), a neurodegenerative disease endemic in the Philippines, is well‐characterized, the exact mechanisms leading to neuronal loss are not yet fully understood.
Petrozziello T +17 more
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X-Linked Parkinsonism: Phenotypic and Genetic Heterogeneity [PDF]
, 2021 X-linked parkinsonism encompasses rare heterogeneous disorders mainly inherited as a recessive trait, therefore being more prevalent in males. Recent developments have revealed a complex underlying panorama, including a spectrum of disorders in which ...
Estevez-Fraga C. +5 more
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Corrigendum: Translation, Cultural Adaptation, and Validation of the Hiligaynon Montreal Cognitive Assessment Tool (MoCA-Hil) Among Patients With X-Linked Dystonia Parkinsonism (XDP) [PDF]
Frontiers in Neurology, 2020 Nicole B. Aliling +3 more
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Neurobiology of Disease, 2020 Neuroinflammation plays a pathogenic role in neurodegenerative diseases and recent findings suggest that it may also be involved in X-linked Dystonia-Parkinsonism (XDP) pathogenesis.
Tiziana Petrozziello +16 more
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Oral diadochokinetic markers of X-linked dystonia-parkinsonism. [PDF]
Parkinsonism Relat DisordX-linked dystonia-parkinsonism (XDP) is a neurodegenerative disorder that may result in severe speech impairment. The literature suggests that there are differences in the speech of individuals with XDP and healthy controls. This study aims to examine the motor speech characteristics of the mixed dystonia-parkinsonism phase of XDP.We extracted acoustic
Kao TH +8 more
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