Results 141 to 150 of about 123,648 (399)

REEP4 variant analysis in blepharospasm and other neurological disorders

Dystonia
Introduction: In preceding work, a deleterious REEP4 variant [GRCh38/hg38, NC_000008.11:g.22140245G>A, NM_025232.4:c.109C>T, p.Arg37Trp] was found to co-segregate with blepharospasm (BSP) in a large African-American pedigree.
Samira Saeirad, Mark S. LeDoux, Mark S. LeDoux   +2 more
doaj   +1 more source

A case of novel DYT6 dystonia variant with serious complications after deep brain stimulation therapy: a case report [PDF]

, 2022
Milan Grofik, Michal Cibulka, Jana Oleksakova, Monika Turčanová Koprušáková, Tomáš Galanda, Ján Necpál, Petra Jungová, Egon Kurča, Juliane Winkelmann, Michael Zech, Robert Jech   +10 more
openalex   +1 more source

Distinction and mutual Influences between Parkinson's Disease‐related and unrelated Chronic Pain

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Chronic pain (i.e. > 3 months) is a common nonmotor symptom in patients with Parkinson's disease (PD), but the attribution to PD is critical for further treatment. Objectives We explored the PD Pain Classification System (PD‐PCS) criteria for the diagnosis of PD‐related pain and mutual influences between PD‐related and PD‐unrelated ...
Jonathan Hunger, Florian Brugger, Georg Kägi, Jens Carsten Möller, Nathalie Hollenstein, David H. Benninger, Michele Tinazzi, Julien F. Bally, Roman Gonzenbach, Daniel Ciampi de Andrade, Santiago Perez Lloret, Veit Mylius   +11 more
wiley   +1 more source

A role for cerebellum in the hereditary dystonia DYT1

eLife, 2017
DYT1 is a debilitating movement disorder caused by loss-of-function mutations in torsinA. How these mutations cause dystonia remains unknown. Mouse models which have embryonically targeted torsinA have failed to recapitulate the dystonia seen in patients,
Rachel Fremont, Ambika Tewari, Chantal Angueyra, K. Khodakhah   +3 more
semanticscholar   +1 more source

Pallidal Deep Brain Stimulation in DYT6 Dystonia: Clinical Outcome and Predictive Factors for Motor Improvement [PDF]

, 2019
Annika Danielsson, Miryam Carecchio, Laura Cif, Anne Koy, Jean‐Pierre Lin, Göran Solders, Luigi Romito, Katja Lohmann, Barbara Garavaglia, Chiara Reale, Giovanna Zorzi, Nardo Nardocci, Philippe Coubes, Victoria González, Agathe Roubertie, Gwenaëlle Collod‐Béroud, Göran Lind, Kristina Tedroff   +17 more
openalex   +1 more source

Combined Effects of Depression, Fatigue and Cardiovascular Dysfunction on Functional Dependence Over Seven Years in Early Parkinson's Disease

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Parkinson's disease (PD) is associated with both motor and non‐motor symptoms, which collectively impact activities of daily living (ADLs) and contribute to the loss of functional independence. There is a lack of understanding of how non‐motor symptoms drive this loss in independence.
Charlotte B. Stewart, Sahana Sathyanarayana, Victoria K. Foster, Robyn Iredale, Debra Galley, Jacopo Pasquini, Kirstie N. Anderson, Nicola Pavese, David Ledingham   +8 more
wiley   +1 more source

Unraveling dystonia circuitry in rodent models using novel neuromodulation techniques

Dystonia
Dystonia is a network disorder presumed to result from abnormalities in multiple brain regions and in multiple cell populations. The specific pathomechanisms affecting the motor circuits in dystonia are, however, still largely unclear.
Lisa Rauschenberger, Chi Wang Ip
doaj   +1 more source

Psychiatric associations of adult-onset focal dystonia phenotypes

Journal of Neurology Neurosurgery & Psychiatry, 2017
Background Depression and anxiety frequently accompany the motor manifestations of isolated adult-onset focal dystonias. Whether the body region affected when this type of dystonia first presents is associated with the severity of these neuropsychiatric ...
B. Berman, Johanna Junker, E. Shelton, Stefan H. Sillau, H. Jinnah, J. Perlmutter, A. Espay, J. Jankovic, M. Vidailhet, C. Bonnet, W. Ondo, I. Malaty, R. Rodriguez, W. McDonald, L. Marsh, M. Zurowski, T. Bäumer, N. Brüggemann   +17 more
semanticscholar   +1 more source

Localization of Dystonic Muscles with 18F-FDG PET/CT in Idiopathic Cervical Dystonia [PDF]

, 2007
Duk Hyun Sung, Ja Young Choi, D.-H. Kim, E.-S. Kim, Young‐Ik Son, Y.-S. Cho, Su Jin Lee, K.-H. Lee, B.-T. Kim   +8 more
openalex   +1 more source

Botulinum Toxin Efficacy in Upper Limb Tremor: A Systematic Review and Meta‐Analysis

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Essential tremor (ET) and dystonic tremor syndrome (DTS) can be treated using botulinum toxin (BoNT) injections. Previous reviews lacked an assessment of the certainty of evidence and focused solely on clinician‐reported outcomes. Additionally, studies have demonstrated interindividual variability in BoNT efficacy. Objective The aim
Iris M. Visser, Yuvadee Pitakpatapee, Bart van de Warrenburg, Rick C. Helmich, Anke H. Snijders, Frouke A.P. Nijhuis   +5 more
wiley   +1 more source