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Review Article
X-Linked Dystonia Parkinsonism: Clinical Phenotype, Genetics and Therapeutics
Raymond L. Rosales
J Mov Disord. 2010;3(2):32-38.
DOI: https://doi.org/10.14802/jmd.10009
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  • 27 Crossref
AbstractAbstract PDF

The clinical phenotype of X-Linked Dystonia Parkinsonism (XDP) is typically one that involves a Filipino adult male whose ancestry is mostly traced in the Philippine island of Panay. Dystonia usually starts focally in the lower limbs or oromandibular regions, then spreads to become generalized eventually. Parkinsonism sets in later into the disease and usually in combination with dystonia. /DYT3/ and /TAF1/ are the two genes associated with XDP. An SVA retrotransposon insertion in an intron of /TAF1/ may reduce neuron-specific expression of the /TAF1/ isoform in the caudate nucleus, and subsequently interfere with the transcription of many neuronal genes. Polypharmacy with oral benzodiazepines, anticholinergic agents and muscle relaxants leaves much to be desired in terms of efficacy. The medications to date that may appear beneficial, especially in disabling dystonias, are zolpidem, muscle afferent block with lidocaine-ethanol and botulinum toxin type A. Despite the few cases undergoing deep brain stimulation, this functional surgery has shown the greatest promise in XDP. An illustrative case of XDP in a family depicts the variable course of illness, including a bout of “status dystonicus,” challenges in therapy, reckoning with the social impact of the disease, and eventual patient demise. Indeed, there remains some gaps in understanding some phenomenological, genetic and treatment aspects of XDP, the areas upon which future research directions may be worthwhile.

Citations

Citations to this article as recorded by  
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    Sungjin A. Song, Criscely L. Go, Patrick B. Acuna, Jan Kristopher Palentinos De Guzman, Nutan Sharma, Phillip C. Song
    Journal of Voice.2023; 37(1): 134.     CrossRef
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  • Elucidating Hexanucleotide Repeat Number and Methylation within the X-Linked Dystonia-Parkinsonism (XDP)-Related SVA Retrotransposon in TAF1 with Nanopore Sequencing
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  • A Community-based study on the prevalence and predisposing factors of Parkinson’s disease in Barangay Mangilag Sur, Quezon Province, Philippines
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    Richelle Ann S. Santiano, Raymond L. Rosales
    Clinical Parkinsonism & Related Disorders.2021; 5: 100100.     CrossRef
  • Speech and swallowing deficits in X-Linked Dystonia-Parkinsonism
    Ana Luiza Zaninotto, Jan K. de Guzman, Kaila L. Stipancic, Bridget J. Perry, Melanie L. Supnet, Criscely Go, Nutan Sharma, Jordan R. Green
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  • Tremor in Primary Monogenic Dystonia
    Sanjay Pandey, Sonali Bhattad, Shreya Dinesh
    Current Neurology and Neuroscience Reports.2021;[Epub]     CrossRef
  • Oromandibular Dystonia: A Clinical Examination of 2,020 Cases
    Laura M. Scorr, Stewart A. Factor, Sahyli Perez Parra, Rachel Kaye, Randal C. Paniello, Scott A. Norris, Joel S. Perlmutter, Tobias Bäumer, Tatiana Usnich, Brian D. Berman, Marie Mailly, Emmanuel Roze, Marie Vidailhet, Joseph Jankovic, Mark S. LeDoux, Ric
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  • Increased insula-putamen connectivity in X-linked dystonia-parkinsonism
    Anne J. Blood, Jeff L. Waugh, Thomas F. Münte, Marcus Heldmann, Aloysius Domingo, Christine Klein, Hans C. Breiter, Lillian V. Lee, Raymond L. Rosales, Norbert Brüggemann
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  • Altered glutamate response and calcium dynamics in iPSC-derived striatal neurons from XDP patients
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  • Eye movement deficits in X-linked dystonia-parkinsonism are related to striatal degeneration
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  • Validation of a screening questionnaire for X‐linked dystonia parkinsonism: The first phase of the population‐based prevalence study of X‐linked dystonia parkinsonism in Panay
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  • Validation of the XDP–MDSP rating scale for the evaluation of patients with X-linked dystonia-parkinsonism
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  • Clinicopathological Phenotype and Genetics of X-Linked Dystonia–Parkinsonism (XDP; DYT3; Lubag)
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  • Prevalence and Predisposing Factors of Parkinson Disease: A Community-Based Study In Barangay Mangilag Sur, Candelaria, Quezon: A Research Protocol
    Danica Jane S.J Robles, Ron Christian Neil T Rodriguez, Nadia Beatrice S Romana, Joseph Mariuz B Rosales, Mary Camille E Rosales, Gerardo B Salazar, Raymond L Rosales
    Journal of Medicine, University of Santo Tomas.2017; 1(1): 109.     CrossRef
  • Evidence of TAF1 dysfunction in peripheral models of X-linked dystonia-parkinsonism
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  • Can a Positive Allosteric Modulation of GABAergic Receptors Improve Motor Symptoms in Patients with Parkinson’s Disease? The Potential Role of Zolpidem in the Treatment of Parkinson’s Disease
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  • Introduction
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JMD : Journal of Movement Disorders