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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.
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  • 321 Download
  • 27 Citations
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 to this article as recorded by  
  • Progressive Decline in Voice and Voice-Related Quality of Life in X-Linked Dystonia Parkinsonism
    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
  • X-linked dystonia parkinsonism: epidemiology, genetics, clinical features, diagnosis, and treatment
    Hok Leong Chin, Chia-Yi Lin, Oscar Hou-In Chou
    Acta Neurologica Belgica.2023; 123(1): 45.     CrossRef
  • Basal Ganglia Atrophy as a Marker for Prodromal X‐Linked Dystonia‐Parkinsonism
    Henrike Hanssen, Cid C. E. Diesta, Marcus Heldmann, Jackson Dy, Jeffrey Tantianpact, Julia Steinhardt, Rosanna Sauza, Hans T. S. Manalo, Andreas Sprenger, Charles Jourdan Reyes, Raphael Tuazon, Björn‐Hergen Laabs, Aloysius Domingo, Raymond L. Rosales, Chr
    Annals of Neurology.2023; 93(5): 999.     CrossRef
  • Oculomotor abnormalities indicate early executive dysfunction in prodromal X-linked dystonia-parkinsonism (XDP)
    Renana Mertin, Cid Diesta, Norbert Brüggemann, Raymond L. Rosales, Henrike Hanssen, Ana Westenberger, Julia Steinhardt, Marcus Heldmann, Hans T. S. Manalo, Jean Q. Oropilla, Christine Klein, Christoph Helmchen, Andreas Sprenger
    Journal of Neurology.2023; 270(9): 4262.     CrossRef
  • Endemic parkinsonism: clusters, biology and clinical features
    Katerina Menšíková, John C. Steele, Raymond Rosales, Carlo Colosimo, Peter Spencer, Annie Lannuzel, Yoshikazu Ugawa, Ryogen Sasaki, Santiago Giménez-Roldán, Radoslav Matej, Lucie Tuckova, Dominik Hrabos, Kristyna Kolarikova, Radek Vodicka, Radek Vrtel, Mi
    Nature Reviews Neurology.2023; 19(10): 599.     CrossRef
  • A scoping review on the diagnosis and treatment of X-linked dystonia-parkinsonism
    Anisah Hayaminnah D. Alonto, Roland Dominic G. Jamora
    Parkinsonism & Related Disorders.2023; : 105949.     CrossRef
  • Elucidating Hexanucleotide Repeat Number and Methylation within the X-Linked Dystonia-Parkinsonism (XDP)-Related SVA Retrotransposon in TAF1 with Nanopore Sequencing
    Theresa Lüth, Joshua Laβ, Susen Schaake, Inken Wohlers, Jelena Pozojevic, Roland Dominic G. Jamora, Raymond L. Rosales, Norbert Brüggemann, Gerard Saranza, Cid Czarina E. Diesta, Kathleen Schlüter, Ronnie Tse, Charles Jourdan Reyes, Max Brand, Hauke Busch
    Genes.2022; 13(1): 126.     CrossRef
  • Prodromal X‐Linked Dystonia‐Parkinsonism is Characterized by a Subclinical Motor Phenotype
    Julia Steinhardt, Henrike Hanssen, Marcus Heldmann, Andreas Sprenger, Björn‐Hergen Laabs, Aloysius Domingo, Charles Jourdan Reyes, Jannik Prasuhn, Max Brand, Raymond Rosales, Thomas F. Münte, Christine Klein, Ana Westenberger, Jean Q. Oropilla, Cid Diesta
    Movement Disorders.2022; 37(7): 1474.     CrossRef
  • A Community-based study on the prevalence and predisposing factors of Parkinson’s disease in Barangay Mangilag Sur, Quezon Province, Philippines
    Raymond L. Rosales, Mary Camille E. Rosales, Danica Jane S.J. Robles, Ron Christian Neil T. Rodriguez, Nadia Beatrice S. Romana, Joseph Mariuz B. Rosales, Gerardo B. Salazar, Richelle Ann S. Santiano
    Clinical Parkinsonism & Related Disorders.2022; 7: 100169.     CrossRef
  • Retroelement-derived RNA and its role in the brain
    Taylor A. Evans, Jennifer Ann Erwin
    Seminars in Cell & Developmental Biology.2021; 114: 68.     CrossRef
  • Behandlungsstrategien bei oromandibulärer Dystonie
    Kazuya Yoshida
    Fortschritte der Neurologie · Psychiatrie.2021; 89(11): 562.     CrossRef
  • X-linked dystonia Parkinsonism: crossing a new threshold
    Arlene R. Ng, Roland Dominic G. Jamora, Raymond L. Rosales
    Journal of Neural Transmission.2021; 128(4): 567.     CrossRef
  • A Cross-Cultural Validation of the Filipino and Hiligaynon Versions of the Parts IIIB (Non-Motor Features) and IV (Activities of Daily Living) of the X-Linked Dystonia-Parkinsonism– MDSP Rating Scale
    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
    Parkinsonism & Related Disorders.2021; 89: 105.     CrossRef
  • 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
    Frontiers in Neurology.2021;[Epub]     CrossRef
  • Voice and swallowing dysfunction in X‐linked dystonia parkinsonism
    Phillip C. Song, Hoai Le, Patrick Acuna, Jan Kristopher Palentinos De Guzman, Nutan Sharma, Taylor N. Francouer, Marisela E. Dy, Criscely L. Go
    The Laryngoscope.2020; 130(1): 171.     CrossRef
  • 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
    NeuroImage: Clinical.2018; 17: 835.     CrossRef
  • Altered glutamate response and calcium dynamics in iPSC-derived striatal neurons from XDP patients
    P. Capetian, N. Stanslowsky, E. Bernhardi, K. Grütz, A. Domingo, N. Brüggemann, M. Naujock, P. Seibler, C. Klein, F. Wegner
    Experimental Neurology.2018; 308: 47.     CrossRef
  • Eye movement deficits in X-linked dystonia-parkinsonism are related to striatal degeneration
    Andreas Sprenger, Henrike Hanssen, Imke Hagedorn, Jannik Prasuhn, Raymond L. Rosales, Roland Dominic G. Jamora, Cid C. Diesta, Aloysius Domingo, Christine Klein, Norbert Brüggemann, Christoph Helmchen
    Parkinsonism & Related Disorders.2018;[Epub]     CrossRef
  • 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
    Jose Danilo B Diestro, Paul Matthew D Pasco, Lillian V Lee
    Neurology and Clinical Neuroscience.2017; 5(3): 79.     CrossRef
  • Validation of the XDP–MDSP rating scale for the evaluation of patients with X-linked dystonia-parkinsonism
    Paul Matthew D. Pasco, Roland Dominic G. Jamora, Raymond L. Rosales, Cid Czarina E. Diesta, Arlene R. Ng, Rosalia A. Teleg, Criscely L. Go, Lillian Lee, Hubert H. Fernandez
    npj Parkinson's Disease.2017;[Epub]     CrossRef
  • Clinicopathological Phenotype and Genetics of X-Linked Dystonia–Parkinsonism (XDP; DYT3; Lubag)
    Toshitaka Kawarai, Ryoma Morigaki, Ryuji Kaji, Satoshi Goto
    Brain Sciences.2017; 7(12): 72.     CrossRef
  • 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
    Aloysius Domingo, David Amar, Karen Grütz, Lillian V. Lee, Raymond Rosales, Norbert Brüggemann, Roland Dominic Jamora, Eva Cutiongco-dela Paz, Arndt Rolfs, Dirk Dressler, Uwe Walter, Dimitri Krainc, Katja Lohmann, Ron Shamir, Christine Klein, Ana Westenbe
    Cellular and Molecular Life Sciences.2016; 73(16): 3205.     CrossRef
  • 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
    Antonio Daniele, Francesco Panza, Antonio Greco, Giancarlo Logroscino, Davide Seripa
    Parkinson's Disease.2016; 2016: 1.     CrossRef
  • Introduction
    Erle C.H. Lim, Roongroj Bhidayasiri, Raymond L. Rosales, Ryuji Kaji
    Parkinsonism & Related Disorders.2011; 17: S1.     CrossRef

JMD : Journal of Movement Disorders