Results 41 to 50 of about 3,520 (162)

The Effect of Glucocorticoids on TAF1 Gene Transcription in X-linked Dystonia Parkinsonism. [PDF]

J ASEAN Fed Endocr Soc, 2023
X-linked Dystonia Parkinsonism (XDP) is associated with a SINE-VNTR- Alu (SVA) retrotransposon insertion in an intron of the TAF1 gene that alters gene transcription and splicing. In this study, we determined if the SVA insertion introduces glucocorticoid (GC)-responsive cis-regulatory elements that may contribute to dysregulated TAF1 transcription and
Cruz SED, Bagamasbad P.
europepmc   +3 more sources

Corrigendum: Translation, Cultural Adaptation, and Validation of the Hiligaynon Montreal Cognitive Assessment Tool (MoCA-Hil) Among Patients With X-Linked Dystonia Parkinsonism (XDP). [PDF]

Front Neurol, 2020
Aliling NB, Rivera AS, Jamora RDG.
europepmc   +2 more sources

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

Oral diadochokinetic markers of X-linked dystonia-parkinsonism. [PDF]

Parkinsonism Relat Disord
X-linked dystonia-parkinsonism (XDP) is a neurodegenerative disorder that may result in severe speech impairment. The literature suggests that there are differences in the speech of individuals with XDP and healthy controls. This study aims to examine the motor speech characteristics of the mixed dystonia-parkinsonism phase of XDP.We extracted acoustic
Kao TH, Rowe HP, Green JR, Stipancic KL, Sharma N, de Guzman JK, Supnet-Wells ML, Acuna P, Perry BJ.   +8 more
europepmc   +3 more sources

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

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

Woman With X-Linked Recessive Dystonia-Parkinsonism [PDF]

JAMA Neurology, 2014
Despite recessive inheritance, X-linked dystonia-parkinsonism (Lubag disease) has also been described in women presenting with a late-onset isolated parkinsonian syndrome. Interestingly, unlike in other populations, there is a slight female predominance in the prevalence of parkinsonism in the Philippines.In a Filipino woman with suspected Parkinson ...
Aloysius, Domingo, Lillian V, Lee, Norbert, Brüggemann, Karen, Freimann, Frank J, Kaiser, Roland D G, Jamora, Raymond L, Rosales, Christine, Klein, Ana, Westenberger   +8 more
openaire   +2 more sources

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

Psychomotor impairments and therapeutic implications revealed by a mutation associated with infantile Parkinsonism-Dystonia

eLife, 2021
Parkinson disease (PD) is a progressive, neurodegenerative disorder affecting over 6.1 million people worldwide. Although the cause of PD remains unclear, studies of highly penetrant mutations identified in early-onset familial parkinsonism have ...
Jenny I Aguilar, Mary Hongying Cheng, Josep Font, Alexandra C Schwartz, Kaitlyn Ledwitch, Amanda Duran, Samuel J Mabry, Andrea N Belovich, Yanqi Zhu, Angela M Carter, Lei Shi, Manju A Kurian, Cristina Fenollar-Ferrer, Jens Meiler, Renae Monique Ryan, Hassane S Mchaourab, Ivet Bahar, Heinrich JG Matthies, Aurelio Galli   +18 more
doaj   +1 more source