X-linked dystonia parkinsonism as a cause of isolated lingual dystonia (ILD)
Journal of Neural TransmissionDystonia is a movement disorder characterized by sustained or intermittent muscle contractions that cause abnormal postures or repetitive movements. Isolated lingual dystonia (ILD) is a rare form of oromandibular dystonia, which affects only the tongue and accounts for about 4% of all dystonia cases.
Lowrence Precious Dichoso +6 more
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A hexanucleotide repeat modifies expressivity of X‐linked dystonia parkinsonism
Annals of Neurology, 2019Objective X‐linked dystonia parkinsonism (XDP) is a neurodegenerative movement disorder caused by a single mutation: SINE‐VNTR‐Alu (SVA) retrotransposon insertion in TAF1 . Recently, a (CCCTCT) n repeat
Ana Westenberger +25 more
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A Scoping Review on the Diagnosis and Treatment of X-Linked Dystonia-Parkinsonism
Parkinsonism and Related DisordersX-linked dystonia-parkinsonism (XDP) is a progressive neurodegenerative disorder that has been studied well in recent years.This scoping review aimed to describe the current state of knowledge about the diagnosis and treatment of XDP, to provide clinicians with a concise and up-to-date overview.We conducted a scoping review of pertinent literature on ...
Roland Dominic Jamora +1 more
exaly +3 more sources
Evidence of TAF1 dysfunction in peripheral models of X-linked dystonia-parkinsonism
Cellular and Molecular Life Sciences, 2016The molecular dysfunction in X-linked dystonia-parkinsonism is not completely understood. Thus far, only noncoding alterations have been found in genetic analyses, located in or nearby the TATA-box binding protein-associated factor 1 (TAF1) gene. Given that this gene is ubiquitously expressed and is a critical component of the cellular transcription ...
Aloysius Domingo +15 more
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Phenotypic expression of X‐linked dystonia‐parkinsonism (lubag) in two women
Neurology, 1993Lubag (X-linked dystonia-parkinsonism) has been considered a sex-linked recessive trait and has been mapped to the pericentromeric region of the X chromosome. We studied a 54-year-old man with lubag and two of his female first cousins. Genetic typing was carried out using X chromosome markers.
C H, Waters +8 more
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Bilateral Pallidal Deep Brain Stimulation for X-Linked Dystonia-Parkinsonism
World Neurosurgery, 2014X-linked dystonia-parkinsonism (XDP) is a progressively debilitating movement disorder that begins with focal dystonia and eventually generalizes. It exclusively affects Filipino inhabitants of the island of Panay. We report a case of XDP successfully treated by deep brain stimulation (DBS) and review the literature.A 36-year-old man with XDP failed ...
Akash J, Patel +3 more
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[Molecular and anatomical bases of dystonia: X-linked recessive dystonia-parkinsonism (DYT3)].
Rinsho shinkeigaku = Clinical neurology, 2006Pathological findings in dystonia have been unclear. X-linked recessive dystonia-parkinsonism (XDP, DYT3), endemic in the Panay island, the Philippines, is characterized by the clinical onset with dystonia followed by parkinsonism. It provides a unique opportunity to explore the anatomical basis of dystonia, because it has discernible pathological ...
Ryuji, Kaji +3 more
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Isolated lingual dystonia as a presenting symptom of X-linked dystonia parkinsonism
Parkinsonism & Related Disorders, 2023D. Dakay +4 more
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Nigrostriatal dysfunction in X‐linked dystonia‐parkinsonism (DYT3)
Movement Disorders, 2007Björn, Tackenberg +11 more
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Pathological Gambling in X-Linked Dystonia Parkinsonism
Journal of Addiction Medicine, 2013openaire +2 more sources