Results 31 to 40 of about 19,586 (243)

A mini-review of the pathophysiology of task-specific tremor: insights from electrophysiological and neuroimaging findings

Dystonia, 2023
Task-specific tremor (TST) is a specific type of tremor that occurs when performing or attempting to perform a specific task, such as writing or playing a musical instrument. The clinical entity of TST remains heterogeneous. Some TSTs can only be induced
Yih-Chih Jacinta Kuo, Kai-Hsiang Stanley Chen   +1 more
doaj   +1 more source

Interdisciplinary recognizing and managing of drug‐induced tardive oromandibular dystonia: two case reports

Clinical Case Reports, 2018
Key Clinical Message Tardive dystonia is a risk factor in medical antipsychotic treatment. It often begins with repetitive involuntary jaw and tongue movements resulting in impaired chewing and detrimental effect on the dentition.
Merete Bakke, Tove Henriksen, Heidi Bryde Biernat, Torben Dalager, Eigild Møller   +4 more
doaj   +1 more source

Transcriptional regulatory network for neuron-glia interactions and its implication for DYT6 dystonia

Dystonia, 2023
Advances in sequencing technologies have identified novel genes associated with inherited forms of dystonia, providing valuable insights into its genetic basis and revealing diverse genetic pathways and mechanisms involved in its pathophysiology.
Dhananjay Yellajoshyula
doaj   +1 more source

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

, 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

Focal Dystonia: The Root Causes Underpinning the Yips [PDF]

, 2021
Cases of the yips have popped up from time to time in all different sports from MLB pitchers suddenly not being able to find the strike zone to professional golfers missing very short putts. A theory proposed by researchers to explain the yips is a motor
Rhoads, Brigham, Nghe, Amy, Martin, Georgia, Gibson, Eve, Loeb, Rachael, Sprague, Samuel   +5 more
core   +1 more source

THE GENETIC BASIS OF PRIMARY ADULT-ONSET DYSTONIA [PDF]

, 2011
Objectives. To identify novel genetic loci associated with primary adult-onset dystonia (AOD) and assess candidate genes from the literature. Secondary aimes.
Esposito, Marcello
core   +1 more source

Case Series: Dystonia with multiple sclerosis and neuromyelitis optica

Dystonia, 2023
Dystonia is an uncommon complication of relapsing-remitting multiple sclerosis (MS) and related disorders. The types of dystonia described associated with MS are heterogenous, and the relationship between dystonia and MS remains unclear.
Helen Hwang, Victoria A. Levasseur, Joel S. Perlmutter   +2 more
doaj   +1 more source

Idiopathic Non-Task-Specific Upper Limb Dystonia, a Neglected Form of Dystonia

, 2020
Objective: The objective of this study was to describe the clinical and demographic features of idiopathic non-task-specific upper limb dystonia compared with the task-specific form.
Albanese A., Scaglione C., Bertolasi L., Ceravolo R., Defazio G., Lalli S., Pisani A., Marchese R., Esposito M., Ercoli T., Eleopra R., Barone P., Fabbrini G., Mascia M. M., Italian Dystonia Registry, Liguori R., Altavista M. C., Bentivoglio A. R., Ferrazzano G., Pellicciari R., Bono F., Girlanda P., Erro R., Berardelli A.   +23 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

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source