Literature DB >> 21047175

The unique phenomenology of sex-linked dystonia parkinsonism (XDP, DYT3, "Lubag").

Lillian V Lee1, Corazon Rivera, Rosalia A Teleg, Marita B Dantes, Paul Matthew D Pasco, Roland Dominic G Jamora, Jose Arancillo, Rodelyn F Villareal-Jordan, Raymond L Rosales, Cynthia Demaisip, Elma Maranon, Olivia Peralta, Ruth Borres, Cirnueb Tolentino, Mercy Joyce Monding, Sonia Sarcia.   

Abstract

Sex-linked dystonia parkinsonism (XDP, DYT3, "Lubag") is an adult-onset, progressive, debilitating movement disorder first described in Filipino males from Panay Islands in 1975. XDP manifests predominantly as torsion dystonia, later combined with or sometimes replaced with parkinsonism. Within the Island of Panay, the prevalence rate is highest in the province of Capiz, where 1:4000 men suffer from the disorder. There is a high degree of penetrance and generalization. While women often serve as carriers, XDP is not limited to men. An updated XDP Philippine registry (as of January 2010) has identified 505 cases, with 500 males and 5 females. While some report that females may carry a milder form of the disorder, in our experience, both sexes generally follow a similar progressive clinical course.

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Year:  2010        PMID: 21047175     DOI: 10.3109/00207454.2010.526728

Source DB:  PubMed          Journal:  Int J Neurosci        ISSN: 0020-7454            Impact factor:   2.292


  33 in total

1.  Association of Pallidal Neurostimulation and Outcome Predictors With X-linked Dystonia Parkinsonism.

Authors:  Norbert Brüggemann; Aloysius Domingo; Dirk Rasche; Christian K E Moll; Raymond L Rosales; Roland Dominic G Jamora; Henrike Hanssen; Alexander Münchau; Julia Graf; Anne Weissbach; Vera Tadic; Cid C Diesta; Jens Volkmann; Andrea Kühn; Thomas F Münte; Volker Tronnier; Christine Klein
Journal:  JAMA Neurol       Date:  2019-02-01       Impact factor: 18.302

2.  X-linked Dystonia-Parkinsonism patient cells exhibit altered signaling via nuclear factor-kappa B.

Authors:  Christine A Vaine; David Shin; Christina Liu; William T Hendriks; Jyotsna Dhakal; Kyle Shin; Nutan Sharma; D Cristopher Bragg
Journal:  Neurobiol Dis       Date:  2016-12-22       Impact factor: 5.996

3.  Neurocognitive profile of patients with X-linked dystonia-parkinsonism.

Authors:  Roland Dominic G Jamora; Cezar Thomas R Suratos; Jesi Ellen C Bautista; Gail Melissa I Ramiro; Ana Westenberger; Christine Klein; Lourdes K Ledesma
Journal:  J Neural Transm (Vienna)       Date:  2021-02-27       Impact factor: 3.575

4.  First Report of a Filipino with Mohr-Tranebjaerg Syndrome.

Authors:  Johanna Melissa Penamora-Destriza; Aloysius Domingo; Thomas G P M Schmidt; Ana Westenberger; Christine Klein; Raymond Rosales
Journal:  Mov Disord Clin Pract       Date:  2015-08-26

5.  Application of long-range polymerase chain reaction in the diagnosis of X-linked dystonia-parkinsonism.

Authors:  Toshitaka Kawarai; Paul Matthew D Pasco; Rosalia A Teleg; Masaki Kamada; Waka Sakai; Komei Shimozono; Makoto Mizuguchi; Daisy Tabuena; Antonio Orlacchio; Yuishin Izumi; Satoshi Goto; Lillian V Lee; Ryuji Kaji
Journal:  Neurogenetics       Date:  2013-02-23       Impact factor: 2.660

Review 6.  X-Linked Dystonia-Parkinsonism: recent advances.

Authors:  D Cristopher Bragg; Nutan Sharma; Laurie J Ozelius
Journal:  Curr Opin Neurol       Date:  2019-08       Impact factor: 5.710

7.  Evidence of TAF1 dysfunction in peripheral models of X-linked dystonia-parkinsonism.

Authors:  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 Westenberger
Journal:  Cell Mol Life Sci       Date:  2016-02-15       Impact factor: 9.261

8.  New insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3).

Authors:  Aloysius Domingo; Ana Westenberger; Lillian V Lee; Ingrid Brænne; Tian Liu; Inga Vater; Raymond Rosales; Roland Dominic Jamora; Paul Matthew Pasco; Eva Maria Cutiongco-Dela Paz; Karen Freimann; Thomas Gpm Schmidt; Dirk Dressler; Frank J Kaiser; Lars Bertram; Jeanette Erdmann; Katja Lohmann; Christine Klein
Journal:  Eur J Hum Genet       Date:  2015-01-21       Impact factor: 4.246

9.  Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity.

Authors:  Hanyin Cheng; Simona Capponi; Emma Wakeling; Elaine Marchi; Quan Li; Mengge Zhao; Chunhua Weng; Piatek G Stefan; Helena Ahlfors; Robert Kleyner; Alan Rope; Aimé Lumaka; Prosper Lukusa; Koenraad Devriendt; Joris Vermeesch; Jennifer E Posey; Elizabeth E Palmer; Lucinda Murray; Eyby Leon; Jullianne Diaz; Lisa Worgan; Amalia Mallawaarachchi; Julie Vogt; Sonja A de Munnik; Lauren Dreyer; Gareth Baynam; Lisa Ewans; Zornitza Stark; Sebastian Lunke; Ana R Gonçalves; Gabriela Soares; Jorge Oliveira; Emily Fassi; Marcia Willing; Jeff L Waugh; Laurence Faivre; Jean-Baptiste Riviere; Sebastien Moutton; Shehla Mohammed; Katelyn Payne; Laurence Walsh; Amber Begtrup; Maria J Guillen Sacoto; Ganka Douglas; Nora Alexander; Michael F Buckley; Paul R Mark; Lesley C Adès; Sarah A Sandaradura; James R Lupski; Tony Roscioli; Pankaj B Agrawal; Antonie D Kline; Kai Wang; H T Marc Timmers; Gholson J Lyon
Journal:  Hum Mutat       Date:  2019-10-23       Impact factor: 4.878

10.  Phasic Knee Bending Dystonic and Parkinsonian Gait: A Characteristic Finding in X-Linked Dystonia Parkinsonism.

Authors:  Christopher D Stephen; Criscely L Go; Patrick Acuna; Nutan Sharma
Journal:  Mov Disord Clin Pract       Date:  2020-03-26
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