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Basal ganglia and cerebellar pathology in X-linked dystonia-parkinsonism [PDF]

Brain, 2018
X-linked dystonia-parkinsonism is a neurodegenerative movement disorder characterized by adult-onset dystonia combined with parkinsonism over the disease course. Previous imaging and pathological findings indicate exclusive striatal atrophy with predominant pathology of the striosomal compartment in the dystonic phase of X-linked dystonia-parkinsonism.
Marcus Heldmann, Jannik Prasuhn, Volker Tronnier   +2 more
exaly   +3 more sources

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A Network Imaging Biomarker of X‐Linked Dystonia‐Parkinsonism

Annals of Neurology, 2023
ObjectiveThe purpose of this study was to characterize a metabolic brain network associated with X‐linked dystonia‐parkinsonism (XDP).MethodsThirty right‐handed Filipino men with XDP (age = 44.4 ± 8.5 years) and 30 XDP‐causing mutation negative healthy men from the same population (age = 37.4 ± 10.5 years) underwent [18F]‐fluorodeoxyglucose positron ...
Martin Niethammer, Chris C. Tang, Roland Dominic G. Jamora, An Vo, Nha Nguyen, Yilong Ma, Shichun Peng, Jeff L. Waugh, Ana Westenberger, David Eidelberg   +9 more
openaire   +2 more sources

X-linked dystonia Parkinsonism: crossing a new threshold

Journal of Neural Transmission, 2021
X-linked dystonia parkinsonism (XDP) is a neurodegenerative disorder that has received significant interest on several fronts. Although much still remains to be elucidated regarding the disease cause, a robust amount of data has been produced in recent years compared to when it was first described in 1976.
Arlene R. Ng, Roland Dominic G. Jamora, Raymond L. Rosales   +2 more
openaire   +2 more sources

Neurocognitive profile of patients with X-linked dystonia-parkinsonism

Journal of Neural Transmission, 2021
X-linked dystonia-parkinsonism (XDP) is a debilitating movement disorder endemic to the Panay Island, Philippines. Most studies focus on motor symptoms, hence we reviewed the neurocognitive profile of XDP patients. Neurocognitive testing of XDP patients focused on five domains: general intellectual functioning, episodic memory, language, attention and ...
Roland Dominic G. Jamora, Cezar Thomas R. Suratos, Jesi Ellen C. Bautista, Gail Melissa I. Ramiro, Ana Westenberger, Christine Klein, Lourdes K. Ledesma   +6 more
openaire   +2 more sources

Speech and swallowing deficits in X-Linked Dystonia-Parkinsonism

Parkinsonism & Related Disorders, 2021
X-linked Dystonia-Parkinsonism (XDP) is a progressive, disabling disease characterized by the devastating impairment of bulbar function, including speech and swallowing. Despite these detrimental impacts, bulbar impairments in this population are not well characterized.To identify impairments in the bulbar system measured by oromotor performance in ...
Ana Luiza Zaninotto, Jan K. de Guzman, Kaila L. Stipancic, Bridget J. Perry, Melanie L. Supnet, Criscely Go, Nutan Sharma, Jordan R. Green   +7 more
openaire   +2 more sources

The Promise of Deep Brain Stimulation in X-Linked Dystonia Parkinsonism

International Journal of Neuroscience, 2011
X-Linked dystonia parkinsonism (XDP) is a rapidly progressive and disabling neurodegenerative disease affecting mainly male Filipinos with origins from Panay Island. We reviewed all the past neurosurgical ablative procedures done for XDP patients listed in the Philippine XDP registry.
Theodor S Vesagas, Roland Dominic G Jamora, Raymond L Rosales   +2 more
exaly   +3 more sources

Voice and swallowing dysfunction in X‐linked dystonia parkinsonism

The Laryngoscope, 2019
Objectives To systematically characterize and describe voice and swallowing manifestations in patients with X‐linked dystonia parkinsonism (XDP) and correlate with quality‐of‐life (QOL) measures. Methods Thirty‐four patients with XDP ...
Phillip C. Song, Hoai Le, Patrick Acuna, Jan Kristopher Palentinos De Guzman, Nutan Sharma, Taylor N. Francouer, Marisela E. Dy, Criscely L. Go   +7 more
openaire   +2 more sources

Adductor laryngeal breathing dystonia in a patient with lubag (X-linked dystonia-parkinsonism syndrome)

Movement Disorders, 1994
AbstractWe report a patient with Lubag (X‐linked dystonia‐parkinsonism) who presented with severe respiratory stridor form adductor laryngeal breathing dystonia. Emergency tracheostomy was necessary, and subsequent laryngeal injection with botulinum toxin led to worsening aspiration. Botulinum toxin injection for severe lingual dystonia was successful.
Kirk C Wilhelmsen
exaly   +3 more sources

A hexanucleotide repeat modifies expressivity of X‐linked dystonia parkinsonism

Annals of Neurology, 2019
ObjectiveX‐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 within the SVA insertion has been reported as an age‐at‐onset (AAO) modifier in XDP.
Ana Westenberger, Charles Jourdan Reyes, Gerard Saranza, Valerija Dobricic, Henrike Hanssen, Aloysius Domingo, Björn‐Hergen Laabs, Susen Schaake, Jelena Pozojevic, Aleksandar Rakovic, Karen Grütz, Kimberly Begemann, Uwe Walter, Dirk Dressler, Peter Bauer, Arndt Rolfs, Alexander Münchau, Frank J. Kaiser, Laurie J. Ozelius, Roland Dominic Jamora, Raymond L. Rosales, Cid Czarina E. Diesta, Katja Lohmann, Inke R. König, Norbert Brüggemann, Christine Klein   +25 more
openaire   +2 more sources