Results 61 to 70 of about 5,458 (159)

NKX2‐1 Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea

Movement Disorders, EarlyView.
Abstract Background NKX2‐1–related disorders (NKX2‐1‐RDs) classically present with a triad of neurological, endocrine, and pulmonary manifestations, including benign hereditary chorea. However, in a fraction of patients, NKX2‐1 coding variants are not detected, and variants outside the NKX2‐1 locus have been reported.
Robin Wijngaard, Lucy Dougherty‐de Miguel, German Demidov, Galuh Astuti, Amaia Lasa‐Aranzasti, Ana Cueto‐González, Marta Correa‐Vela, Carlos Lázaro‐Hernández, Charlotte A. Haaxma, Clara D.M. van Karnebeek, David Gómez‐Andrés, Ignacio Iglesias‐Serrano, Jiddeke M. van de Kamp, Jolanda Schieving, Laura Trujillano, Marc Engelen, Beatriz Muñoz‐Cabello, Roderick P.P.W.M. Maas, Thatjana Gardeitchik, Victoria Gonzalez, Annemarie de Vreugd, Cristina Pérez‐Sanchez, Elisabet Lloveras, Erik‐Jan Kamsteeg, Maartje Pennings, Natalia Rey‐Viñets, Javier Sánchez, Ronald van Beek, Antonio Moreno‐Galdó, Lisenka E.L.M. Vissers, Kornelia Neveling, Anna Marcé‐Grau, Machteld M. Oud, Belén Pérez‐Dueñas   +33 more
wiley   +1 more source

“Spooning”: A Subtle Sign of Limb Dystonia

Tremor and Other Hyperkinetic Movements, 2018
Background: The diagnosis of dystonia can be clinically challenging due to its heterogeneous presentation; essential tremor (ET) is a more common neurological disorder, but may be mimicked by other movement disorders, including dystonia, leading to ...
Christine Y. Kim, Elan D. Louis
doaj   +1 more source

Intervention outcomes of children with non‐degenerative dystonia and associated hyperkinetic movement disorders: A scoping review

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To identify the outcomes reported in published studies of intervention approaches used with non‐degenerative childhood hyperkinetic movement disorders, including dystonia, dyskinesia, hypertonia, athetosis, chorea, cerebral palsy, involuntary movement, and kernicterus, and map them to the International Classification of Functioning ...
Hortensia Gimeno, Hannah Scott, Rocio Muñoz Sanchez, Alice Doohan, Deepti Chugh, Adrienne Harvey, Kirsty Stewart, Peter Rosenbaum, Grace Stynes, Khamani Edwards, Katherine Knighting   +10 more
wiley   +1 more source

Early Cervical and Orofacial Variable Dystonia in Levodopa‐Naïve PRKN Parkinson's Disease

Movement Disorders Clinical Practice, EarlyView.
Amy Gallagher, Aine Redmond, John McKinley, John Inocentes, Diana A Olszewska, Conor Fearon, Tim Lynch   +6 more
wiley   +1 more source

Phenotypic characteristics of paroxysmal dyskinesia in 25 cats

Journal of Small Animal Practice, Volume 67, Issue 8, Page 734-738, August 2026.
Objectives Paroxysmal dyskinesia has, to date, been reported only systematically in Sphynx cats. This study aims to describe paroxysmal dyskinesia in additional breeds. Materials and Methods The medical records of cats from multiple hospitals presenting with episodes consistent with paroxysmal dyskinesia between 2020 and 2025 were retrospectively ...
T. Liatis, C. Maeso, A. De Stefani, A. Pergande, T. Elvira, A. Suñol   +5 more
wiley   +1 more source

Rest tremor revisited: Parkinson’s disease and other disorders

Translational Neurodegeneration, 2017
Tremor is the most common movement disorder characterized by a rhythmical, involuntary oscillatory movement of a body part. Since distinct diseases can cause similar tremor manifestations and vice-versa, it is challenging to make an accurate diagnosis ...
Wei Chen, Franziska Hopfner, Jos Steffen Becktepe, Günther Deuschl   +3 more
doaj   +1 more source

Autoimmune Encephalitis in Acute Care—Pathology, Diagnosis, and Management

Advanced Science, Volume 13, Issue 37, 3 July 2026.
ABSTRACT Autoimmune encephalitis (AE) is characterized by immune‐mediated inflammation of the brain parenchyma, presenting with various neurological syndromes, including but not limited to seizures, altered consciousness, neuropsychiatric symptoms, and movement disorders.
Suneesh Thilak, David Okoh, William Scotton, Shanika Samarasekera, Vikram Patil, Suresh Renukappa, Andrew Macduff, Subashini Suresh, Rajeev Krishnadas, Tonny Veenith   +9 more
wiley   +1 more source

Dystonia and Tremor: The Clinical Syndromes with Isolated Tremor

Tremor and Other Hyperkinetic Movements, 2016
Background: Dystonia and tremor share many commonalities. Isolated tremor is part of the phenomenological spectrum of isolated dystonia and of essential tremor.
Alberto Albanese, Francesca Del Sorbo
doaj   +1 more source

Sensory Tricks in Dystonia: A Systematic Review and Nested Quantitative Synthesis

Brain and Behavior, Volume 16, Issue 7, July 2026.
Sensory tricks transiently suppress dystonic movements in up to 90% of patients when systematically elicited, yet remain underyrecognized clinically. Their neurophysiological basis and deviceybased analogues offer a promising, underutilized therapeutic avenue warranting standardized assessment and controlled trials.
Anish Mehta, Thyagarajan Shivashanmugam, Michiko K. Bruno, Roongroj Bhidayasiri, Sanjay Pandey, Kailash P. Bhatia, Louis C. S. Tan, Pramod Kumar Pal   +7 more
wiley   +1 more source

Bilateral Ballismus: An Unusual Clinical Sign With an Unexpected Origin

Clinical Case Reports, Volume 14, Issue 7, July 2026.
ABSTRACT The spectrum of neurologic symptoms caused by hypoglycaemia can be remarkably broad. Thus, hypoglycemia should be considered early in the diagnostic workup of neurologic symptoms, including those that may appear atypical. Prompt glucose administration can result in rapid symptom resolution, potentially preventing costly or unnecessary invasive
S. Reichert, A. Knoflach, I. Wiedl, K. Hoskin, C. Ganser, M. Wertli, T. Cosma   +6 more
wiley   +1 more source