Results 1 to 10 of about 7,620,483 (116)

X-Linked Dystonia Parkinsonism: Clinical Phenotype, Genetics and Therapeutics [PDF]

Journal of Movement Disorders, 2010
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.
Raymond L. Rosales
doaj   +2 more sources

Neuroimaging and neuropathology studies of X-linked dystonia parkinsonism

Neurobiology of Disease, 2021
X-linked Dystonia Parkinsonism (XDP) is a recessive, genetically inherited neurodegenerative disorder endemic to Panay Island in the Philippines. Clinical symptoms include the initial appearance of dystonia, followed by parkinsonian traits after 10–15 ...
Christine J. Arasaratnam, Malvindar K. Singh-Bains, Henry J. Waldvogel, Richard L.M. Faull   +3 more
doaj   +2 more sources

Transcranial magnetic resonance-guided focused ultrasound pallidothalamic tractotomy for patients with X-linked dystonia-parkinsonism: a study protocol

BMC Neurology, 2023
Transcranial magnetic resonance-guided focused ultrasound (MRgFUS) is a noninvasive method for controlling tremor and has recently been used in patients with X-linked dystonia-parkinsonism (XDP).
Roland Dominic G. Jamora, Kathleen Joy O. Khu, Marie Charmaine C. Sy, Juan Silvestre G. Pascual, Gerardo D. Legaspi, Jose A. Aguilar   +5 more
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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

Clinical Parkinsonism & Related Disorders, 2021
Introduction: X-linked dystonia-parkinsonism (XDP) is a progressive movement disorder which also encompasses non-motor features and alterations in activities of daily living.
Richelle Ann S. Santiano, Raymond L. Rosales   +1 more
doaj   +1 more source

Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism

Nature Communications, 2021
Age at onset of X-linked dystonia-parkinsonism is 50% explained by the length of a repeat in an SVA insert. The authors perform a GWAS for genetic modifiers and discover three more loci, accounting for another 13% of variability in age at onset with the ...
Björn-Hergen Laabs, Christine Klein, Jelena Pozojevic, Aloysius Domingo, Norbert Brüggemann, Karen Grütz, Raymond L. Rosales, Roland Dominic Jamora, Gerard Saranza, Cid Czarina E. Diesta, Michael Wittig, Susen Schaake, Marija Dulovic-Mahlow, Jana Quismundo, Pia Otto, Patrick Acuna, Criscely Go, Nutan Sharma, Trisha Multhaupt-Buell, Ulrich Müller, Henrike Hanssen, Fabian Kilpert, Andre Franke, Arndt Rolfs, Peter Bauer, Valerija Dobričić, Katja Lohmann, Laurie J. Ozelius, Frank J. Kaiser, Inke R. König, Ana Westenberger   +30 more
doaj   +1 more source

Neuroinflammation and histone H3 citrullination are increased in X-linked Dystonia Parkinsonism post-mortem prefrontal cortex

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, Alexandra N. Mills, Christine A. Vaine, Ellen B. Penney, Cara Fernandez-Cerado, Gierold Paul A. Legarda, M. Salvie Velasco-Andrada, Patrick J. Acuña, Mark A. Ang, Edwin L. Muñoz, Cid Czarina E. Diesta, Regina Macalintal-Canlas, Geraldine Acuña-Sunshine, Laurie J. Ozelius, Nutan Sharma, D. Cristopher Bragg, Ghazaleh Sadri-Vakili   +16 more
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Transcranial Magnetic Resonance-Guided Focused Ultrasound in X-Linked Dystonia-Parkinsonism

Life, 2021
X-linked dystonia-parkinsonism (XDP) is a neurodegenerative condition found among males with maternal ancestry from Panay Island, Philippines. The treatment options are limited. We report on our experience of three XDP patients who underwent transcranial
Roland Dominic G. Jamora, Wei-Chieh Chang, Takaomi Taira   +2 more
doaj   +1 more source

Decreased N-TAF1 expression in X-linked dystonia-parkinsonism patient-specific neural stem cells

Disease Models & Mechanisms, 2016
X-linked dystonia-parkinsonism (XDP) is a hereditary neurodegenerative disorder involving a progressive loss of striatal medium spiny neurons. The mechanisms underlying neurodegeneration are not known, in part because there have been few cellular models ...
Naoto Ito, William T. Hendriks, Jyotsna Dhakal, Christine A. Vaine, Christina Liu, David Shin, Kyle Shin, Noriko Wakabayashi-Ito, Marisela Dy, Trisha Multhaupt-Buell, Nutan Sharma, Xandra O. Breakefield, D. Cristopher Bragg   +12 more
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Applicability of clinical genetic testing for deep brain stimulation treatment in monogenic Parkinson’s disease and monogenic dystonia: a multidisciplinary team perspective

Frontiers in Neuroscience, 2023
In this perspective article, we highlight the possible applicability of genetic testing in Parkinson’s disease and dystonia patients treated with deep brain stimulation (DBS).
Valentino Rački, Valentino Rački, Mario Hero, Mario Hero, Eliša Papić, Eliša Papić, Gloria Rožmarić, Nada Starčević Čizmarević, Darko Chudy, Borut Peterlin, Vladimira Vuletić, Vladimira Vuletić   +11 more
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X-linked Dystonia-Parkinsonism patient cells exhibit altered signaling via nuclear factor-kappa B

Neurobiology of Disease, 2017
X-linked Dystonia-Parkinsonism (XDP) is a progressive neurodegenerative disease involving the loss of medium spiny neurons within the striatum. An XDP-specific haplotype has been identified, consisting of seven sequence variants which cluster around the ...
Christine A. Vaine, David Shin, Christina Liu, William T. Hendriks, Jyotsna Dhakal, Kyle Shin, Nutan Sharma, D. Cristopher Bragg   +7 more
doaj   +1 more source