Results 11 to 20 of about 2,327 (119)

X-Linked Parkinsonism: Phenotypic and Genetic Heterogeneity [PDF]

, 2021
X-linked parkinsonism encompasses rare heterogeneous disorders mainly inherited as a recessive trait, therefore being more prevalent in males. Recent developments have revealed a complex underlying panorama, including a spectrum of disorders in which ...
Estevez-Fraga C., Pisani A., Magrinelli F., Valente E. M., Bhatia K. P., Di Lazzaro G.   +5 more
core   +2 more sources

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
doaj   +1 more source

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
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
doaj   +1 more source

The vital role of natural history studies in rare disease: insights from X-linked dystonia parkinsonism

, 2023
This scientific commentary refers to ‘Establishing a natural history of X-linked dystonia parkinsonism’, by Acuna et al.
Brashear, Allison, Haq, Ihtsham
core   +1 more source

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

Pallidal Deep Brain Stimulation for Monogenic Dystonia: The Effect of Gene on Outcome

Frontiers in Neurology, 2021
Globus pallidus internus deep brain stimulation (GPi DBS) is the most effective intervention for medically refractory segmental and generalized dystonia in both children and adults.
Stephen Tisch, Kishore Raj Kumar, Kishore Raj Kumar   +2 more
doaj   +1 more source

Association Study of TAF1 Variants in Parkinson’s Disease

Frontiers in Neuroscience, 2022
Increasing evidence reveals sex as an important factor in the development of Parkinson’s disease (PD), but associations between genes on the sex chromosomes and PD remain unknown.
Qian Zeng, Hongxu Pan, Yuwen Zhao, Yige Wang, Qian Xu, Jieqiong Tan, Xinxiang Yan, Jinchen Li, Jinchen Li, Jinchen Li, Beisha Tang, Beisha Tang, Beisha Tang, Beisha Tang, Jifeng Guo, Jifeng Guo, Jifeng Guo, Jifeng Guo, Jifeng Guo   +18 more
doaj   +1 more source