Results 41 to 50 of about 7,564,623 (164)

levels in X‐linked dystonia‐parkinsonism [PDF]

, 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
Sally A. Cowley, Norbert Brüggemann, Philipp Capetian, Insa Lenz, Karen Grütz, Ana Westenberger, Inke König, Arndt Rolfs, Dominic Jamora, Aleksandar Rakovic, Raymond Rosales, Christine Klein, Philip Seibler, Aloysius Domingo, Leonora Kulikovskaja   +14 more
core   +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

Development of parkinsonism after long-standing cervical dystonia – A cohort [PDF]

, 2021
INTRODUCTION: Dystonia occurring in the context of parkinsonism is well-known, e.g. as foot dystonia in young-onset Parkinson's disease (PD), anterocollis in multisystem atrophy (MSA) or blepharospasm (levator inhibition) in progressive supranuclear ...
Di Lazarro, G, Gövert, F, Bhatia, KP, Erro, R, Mulroy, E, Holton, JL, Batla, A, Balint, B, Miki, Y, Warner, TT, Latorre, A   +10 more
core   +3 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

The Genetic Landscape of Parkinsonism-Related Dystonias and Atypical Parkinsonism-Related Syndromes

, 2021
In recent decades, genetic research has nominated promising pathways and biological insights contributing to the etiological landscape of parkinsonism-related dystonias and atypical parkinsonism-related syndromes.
Joos Berghausen, Pilar Alvarez Jerez, Sara Bandres-Ciga, Monica Diez-Fairen   +3 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

Pathogenic SREK1 decrease in Huntington's disease lowers TAF1 mimicking X-linked dystonia parkinsonism. [PDF]

Brain, 2020
The Author(s) (2020).Huntington’s disease and X-linked dystonia parkinsonism are two monogenic basal ganglia model diseases. Huntington’s disease is caused by a polyglutamine-encoding CAG repeat expansion in the Huntingtin (HTT) gene leading to several ...
Hernández IH, Cabrera JR, Santos-Galindo M, Sánchez-Martín M, Domínguez V, García-Escudero R, Pérez-Álvarez MJ, Pintado B, Lucas JJ.   +8 more
europepmc   +2 more sources

Deep Learning Pose Estimation for Phenotyping of Co‐Occurring Hyperkinetic Movement Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To explore whether routine outpatient video combined with deep learning‐based pose estimation and clinically interpretable kinematic features can support multi‐label phenotyping of co‐occurring hyperkinetic movement disorders (HMDs).
Laura Cif, Diane Demailly, Gabriella A. Horvàth, Juan Dario Ortigoza Escobar, Nathalie Dorison, Mayté Castro Jiménez, Cécile A. Hubsch, Thomas Wirth, Gun‐Marie Hariz, Sophie Huby, Morgan Dornadic, Zohra Souei, Muhammad Mushhood Ur Rehman, Simone Hemm, Mehdi Boulaymen, Eduardo M. Moraud, Jocelyne Bloch, Xavier Vasques   +17 more
wiley   +1 more source