Results 31 to 40 of about 7,564,623 (164)

X-Linked Dystonia-Parkinsonism: recent advances. [PDF]

Curr Opin Neurol, 2019
Purpose of review Our understanding of X-Linked Dystonia-Parkinsonism (XDP) has advanced considerably in recent years because of a wealth of new data describing its genetic basis, cellular phenotypes, neuroimaging features, and response to deep brain stimulation (DBS). This review provides a concise summary of these studies.
Bragg DC, Sharma N, Ozelius LJ.
europepmc   +4 more sources

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 ...
Pisani, A, Valente, Enza M, Di Lazzaro, G, Di Lazzaro, Giulia, Magrinelli, F, Estevez-Fraga, C, Bhatia, KP, Pisani, Antonio, Valente, EM, Bhatia, Kailash P, Estevez-Fraga, Carlos, Magrinelli, Francesca, Pisani A., Magrinelli F., Estevez-Fraga C., Valente E. M., Bhatia K. P., Di Lazzaro G.   +17 more
core   +3 more sources

Targeting Myeloperoxidase to Reduce Neuroinflammation in X-Linked Dystonia Parkinsonism. [PDF]

CNS Neurosci Ther
ABSTRACT Aims Although the genetic locus of X‐linked dystonia parkinsonism (XDP), a neurodegenerative disease endemic in the Philippines, is well‐characterized, the exact mechanisms leading to neuronal loss are not yet fully understood.
Petrozziello T, Motlagh NJ, Monsanto RZB, Lei D, Murcar MG, Penney EB, Bragg DC, Fernandez-Cerado C, Legarda GP, Sy M, Muñoz E, Ang MC, Diesta CCE, Zhang C, Tanzi RE, Qureshi IA, Chen JW, Sadri-Vakili G.   +17 more
europepmc   +4 more sources

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

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

Elucidating Hexanucleotide Repeat Number and Methylation within the X-Linked Dystonia-Parkinsonism (XDP)-Related SVA Retrotransposon in TAF1 with Nanopore Sequencing. [PDF]

Genes (Basel), 2022
Background: X-linked dystonia-parkinsonism (XDP) is an adult-onset neurodegenerative disorder characterized by progressive dystonia and parkinsonism.
Lüth T, Laβ J, Schaake S, Wohlers I, Pozojevic J, Jamora RDG, Rosales RL, Brüggemann N, Saranza G, Diesta CCE, Schlüter K, Tse R, Reyes CJ, Brand M, Busch H, Klein C, Westenberger A, Trinh J.   +17 more
europepmc   +2 more sources

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

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