Results 41 to 50 of about 5,489 (166)

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

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

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

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

Neuroenergetic Changes in Patients with X-Linked Dystonia-Parkinsonism and Female Carriers. [PDF]

Mov Disord Clin Pract
ABSTRACTBackgroundX‐linked dystonia‐parkinsonism (XDP) is a rare movement disorder characterized by profound neurodegeneration in the basal ganglia. The molecular consequences and the bioenergetic state of affected individuals remain largely unexplored.ObjectivesTo investigate the bioenergetic state in male patients with XDP and female carriers using ...
Prasuhn J, Henkel J, Algodon SM, Uter J, Rosales RL, Klein C, Steinhardt J, Diesta CC, Brüggemann N.   +8 more
europepmc   +3 more sources

levels in X‐linked dystonia‐parkinsonism

, 2018
Background: The most likely genetic cause of X‐linked dystonia‐parkinsonism, a neurodegenerative movement disorder endemic to the Philippines, is a 2672‐bp‐long retrotransposon insertion in intron 32 of the TAF1 gene. The objectives of this study were to
Rolfs, A, Sally A. Cowley, Norbert Brüggemann, Rakovic, A, Philipp Capetian, Rosales, R, Insa Lenz, Karen Grütz, Brüggemann, N, Ana Westenberger, Cowley, Sally, Jamora, D, Capetian, P, Inke König, Westenberger, A, Cowley, SA, Arndt Rolfs, Lenz, I, Klein, C, Domingo, A, Kulikovskaja, L, Dominic Jamora, Seibler, P, Aleksandar Rakovic, König, I, Raymond Rosales, Grütz, K, Christine Klein, Philip Seibler, Aloysius Domingo, Leonora Kulikovskaja   +30 more
core   +1 more source

Non-invasive detection of allele-specific CRISPR-SaCas9-KKH disruption of TOR1A DYT1 allele in a xenograft mouse model

Molecular Therapy: Nucleic Acids
DYT1 dystonia is a neurological movement disorder characterized by a dominant 3-base pair deletion (ΔGAG) in the TOR1A gene. This study demonstrates a gene-editing approach that selectively targets the ΔGAG mutation in the TOR1A DYT1 allele while ...
Katia E. Maalouf, Dawn Madison Frederick, Nutan Sharma, Edwina Abou Haidar, Tianhe Xiao, Justin Seungkyu Han, Mohammed S. Mahamdeh, Roy J. Soberman, David Rufino-Ramos, Benjamin P. Kleinstiver, Hyder A. Jinnah, Christine A. Vaine, D. Cristopher Bragg, Koen Breyne   +13 more
doaj   +1 more source