Results 41 to 50 of about 52,972 (303)

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 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

Dystonia [PDF]

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

Posterior Cortical Atrophy in the Asia‐Pacific: A Report From the PCA Asian Workgroup

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Posterior Cortical Atrophy (PCA) is a distinct dementia syndrome primarily affecting spatial abilities and visual processing. It is associated with degeneration in the posterior part of the brain. PCA is subclassified into PCA‐pure and PCA‐plus syndromes based on consensus criteria.
Yuttachai Likitjaroen, Ya‐Ting Chang, Levinia Lim, Pai‐Yi Chiu, Jung‐Lung Hsu, SangYun Kim, Wataru Narita, Na Young Ryoo, Kyoko Suzuki, Nagaendran Kandiah, Sebastian Crutch, Ming‐Chyi Pai   +11 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

Spinal dystonia and other spinal movement disorders

Dystonia, 2023
While traditionally considered a disorder of the basal ganglia, brainstem, and cerebellum, multiple reports have shown that spinal cord pathologies may lead to dystonia.
Shlok Sarin, Shlok Sarin, Temitope Lawal, Hesham Abboud, Hesham Abboud   +4 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  

Age-related sexual dimorphism in temporal discrimination and in adult-onset dystonia suggests GABAergic mechanisms.

, 2015
Background: Adult onset isolated focal dystonia presenting in early adult life is more frequent in men whereas in middle age it is female predominant.
Daniel G. Healy (12583432), Richard Walsh (12583435), Richard eWalsh, Laura eWilliams, Tim Lynch, Seán O’Riordan, McGovern, Eavan, Cathal Walsh, Richard B Reilly, Michael eHutchinson, Fiona Molloy, Dan G. Healy, Helena eMoore, Cathal eWalsh, Butler, John S, Richard B. Reilly, Sean eO'Riordan, Walsh, Richard, Hutchinson, Michael, Seán O'Riordan (12583438), John S. Butler (10692657), Ines M. Beiser (12583483), Ines M. Beiser, O\u27Riordan, Sean, Beiser, Ines M., Michael Hutchinson, Reilly, Richard B, Healy, Dan G, Moore, Helena, Williams, Laura, Reilly, Richard B., Helena Moore (12583429), Daniel G Healy, Butler, John S., Eavan McGovern (6677801), Helena Moore, Lynch, Timothy, Walsh, Cathal Dominic, Molloy, Fiona, Eavan eMcGovern, Tim Lynch (244259), Cathal Dominic Walsh (12583351), Laura Williams (552566), Laura Williams, Eavan McGovern, Walsh, Cathal, Fiona eMolloy, John S. Butler, Lynch, Tim, Richard Walsh, Ines M Beiser, Butler, John, Michael Hutchinson (133566), Healy, Daniel G., Beiser, Ines M, Richard B. Reilly (7935629), Tim eLynch, Fiona Molloy (12583426)   +57 more
core   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 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