Results 41 to 50 of about 59,501 (281)

Neurochemical Endpoints to Inform Early‐Stage Trials of Spinocerebellar Ataxia 2 and 3 in a Multisite Setting

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neurochemical levels measured by brain MR spectroscopy (MRS) have been proposed as endpoints for clinical trials in early‐stage spinocerebellar ataxia (SCA) trials. We tested their trial‐readiness by quantifying neurochemicals in three affected brain regions in early‐stage cohorts of SCA2 and SCA3, examining their reproducibility in ...
James M. Joers, Yaqiao Wei, Dinesh K. Deelchand, Adam Berrington, Young Woo Park, Guita Banan, Michal Povazan, Jens T. Rosenberg, André J. W. van der Kouwe, Tetsuo Ashizawa, Khalaf O. Bushara, Chiadi U. Onyike, Sub H. Subramony, Jeremy D. Schmahmann, Brian J. Soher, Peter B. Barker, Thomas H. Mareci, Eva‐Maria Ratai, Lynn E. Eberly, Gülin Öz   +19 more
wiley   +1 more source

Pain localization and response to botulinum toxin in cervical dystonia

Dystonia
IntroductionPain is a common symptom of cervical dystonia (CD). The mainstay of treatment of CD is botulinum toxin, which is known to have benefits in relieving pain.
Alexander S. Wang, Alexander S. Wang, Hanieh Agharazi, Hanieh Agharazi, Aetan Parmar, Camilla W. Kilbane, Camilla W. Kilbane, Lauren Cameron, Lauren Cameron, Aasef G. Shaikh, Aasef G. Shaikh, Aasef G. Shaikh, Steven A. Gunzler, Steven A. Gunzler   +13 more
doaj   +1 more source

Dopa-responsive dystonia and hyperprolactinaemia : a novel association in two sisters [PDF]

, 2007
Dopa-Responsive Dystonia (DRD) is a rare hereditary condition of childhood-onset dystonia which responds dramatically to treatment with levodopa. It was first described in 1971 as a "hereditary progressive basal ganglia disease with marked diurnal ...
Cachia, Mario J., Galea, Janabel
core  

Digital Cognitive Testing in Mitochondrial Disease: Validity and Challenges for Clinical Trial Use

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Primary mitochondrial disease is a group of genetic disorders caused by pathogenic variants in nuclear or mitochondrial DNA, often resulting in progressive neurodegeneration and cognitive decline. Current management is primarily supportive, though recent research offers hope for disease‐modifying treatments in the future.
Oksana Pogoryelova, Jan Smeitink, Herma Renkema, Rosabeth White, Frankie Barton, Rachel Lyon, Jane Newman, Aye Moe, Yi Shiau Ng, Grainne Siobhan Gorman   +9 more
wiley   +1 more source

Tremor in cervical dystonia

Dystonia
Background: Cervical dystonia (CD) is the most common form of focal dystonia encountered in the clinic. Approximately one-third of CD patients have co-existing tremor in the head and hands.
Sinem Balta Beylergil, Krishna Nikhil Mukunda, Mohamed Elkasaby, Joel S. Perlmutter, Stewart Factor, Tobias Bäumer, Jeanne Feurestein, Erika Shelton, Steven Bellows, Joseph Jankovic, Abhimanyu Mahajan, Tila Wamer-Rosen, Stephen G. Reich, Aparna Wagle Shukla, Irene Malaty, Alberto Espay, Kevin Duque, Mark S. LeDoux, Rachel Saunders-Pullman, Katherine Leaver, Samuel Frank, Alexander Pantelyat, Victor Fung, Sarah Pirio Richardson, Brian Berman, Natividad Stover, Andres Deik, William Ondo, Christopher Groth, Hyder A. Jinnah, Aasef G. Shaikh   +30 more
doaj   +1 more source

Dystonia [PDF]

BMJ, 2022
Sadnicka, A, Meppelink, A-M, Kalinowski, A, Oakeshott, P, van den Dool, J   +4 more
openaire   +2 more sources

Dysfunctional Networks in Functional Dystonia

, 2023
Functional dystonia, the second most common functional movement disorder, is characterized by acute or subacute onset of fixed limb, truncal, or facial posturing, incongruent with the action-induced, position-sensitive, and task-specific manifestations ...
Luca Marsili, Alberto J. Espay, Matteo Bologna, Lucia Ricciardi   +3 more
core  

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

A digital patient-centered outcome tool for cervical dystonia

Dystonia
IntroductionTo establish clinical trial readiness for dystonia, a crucial step is to develop a Patient-Centered Outcome (PCO) measure to capture therapeutic response in focal dystonia such as in cervical dystonia (CD).
Sarah Pirio Richardson, Brian D. Berman, Janet Hieshetter, Cynthia Comella, David A. Peterson, Gamze Kilic-Berkmen, Laura Wright, Samantha Pentecost, Paul Reyes, Joseph Jankovic, Charles H. Adler, Marina A. J. Tijssen, Teresa J. Kimberley, Monika Benson, Joel S. Perlmutter, Fares Qeadan, H. A. Jinnah   +16 more
doaj   +1 more source

Adult-Onset Dystonia Related to PRKRA (DYT16): A Predictor of Favorable Deep Brain Stimulation Outcome. [PDF]

Mov Disord Clin Pract
Movement Disorders Clinical Practice, EarlyView.
Gomes ILDS, Amorim ED, León JSS, Schlickmann TH, Borges YFF, Schuh AFS, Teixeira-Dos-Santos D, Trentin S, Monte TL, de Oliveira BSF.   +9 more
europepmc   +2 more sources