Results 71 to 80 of about 123,648 (399)

The differential diagnosis of chorea [PDF]

, 2007
Chorea is a hyperkinetic movement disorder characterised by excessive spontaneous movements that are irregularly timed, randomly distributed and abrupt. In this article, the authors discuss the causes of chorea, particularly Huntington's disease and the ...
Tabrizi, SJ, Wild, EJ
core   +1 more source

Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single‐center cohort study

Movement Disorders, 2019
Childhood‐onset dystonia is often genetically determined. Recently, KMT2B variants have been recognized as an important cause of childhood‐onset dystonia.
M. Carecchio, F. Invernizzi, P. Gonzalez-Latapi, C. Panteghini, G. Zorzi, L. Romito, V. Leuzzi, S. Galosi, Chiara Reale, F. Zibordi, A. Joseph, M. Topf, C. Piano, A. Bentivoglio, F. Girotti, P. Morana, Benedetto Morana, M. Kurian, B. Garavaglia, N. Mencacci, S. Lubbe, N. Nardocci   +21 more
semanticscholar   +1 more source

Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz, Josefine Eck, Joel S. Winston, Kate Baker   +3 more
wiley   +1 more source

DNM1 encephalopathy: A new disease of vesicle fission. [PDF]

, 2017
ObjectiveTo evaluate the phenotypic spectrum caused by mutations in dynamin 1 (DNM1), encoding the presynaptic protein DNM1, and to investigate possible genotype-phenotype correlations and predicted functional consequences based on structural modeling ...
Campbell, Colleen A, Cervenka, Mackenzie C, Cilio, Maria R, Cohen, Julie S, Dlugos, Dennis J, Epi4K Consortium, EuroEPINOMICS-RES NLES Working Group, Fatemi, Ali, Helbig, Ingo, Helbig, Katherine L, Hernandez-Hernandez, Laura, Hollingsworth, Georgie, Huether, Robert, Joshi, Charuta N, Kaplan, Richard A, Kirsch, Heidi, Kolbe, Diana L, Lawson, John A, Littlejohn, Rebecca, Lourenço, Charles, Maher, Bridget, McClellan, Rebecca, McLean, Scott D, Muhle, Hiltrud, Møller, Rikke S, Neubauer, Bernd A, Nunes, Mark E, Palmer, Elizabeth, Pena, Sérgio DJ, Pendziwiat, Manuela, Sagawa, Yoshimi, Sarco, Dean P, Scheffer, Ingrid E, Shinde, Deepali N, Sisodiya, Sanjay M, Slavotinek, Anne, Stephani, Ulrich, von Spiczak, Sarah, Yuen, Amy   +38 more
core   +2 more sources

Efficacy of pallidal stimulation in isolated dystonia: a systematic review and meta‐analysis

European Journal of Neurology, 2017
The aim of this review was to provide strong clinical evidence of the efficacy of deep brain stimulation (DBS) of the globus pallidus internus (GPi) in isolated inherited or idiopathic dystonia.
E. Moro, C. Lereun, J. Krauss, A. Albanese, Jean-Pierre Lin, S. W. Autiero, Thomas C. Brionne, M. Vidailhet   +7 more
semanticscholar   +1 more source

X-linked dystonia-parkinsonism

Definitions, 2020
Later in life, many affected individuals also develop a pattern of involuntary, sustained muscle contractions known as dystonia. The dystonia associated with X-linked dystonia-parkinsonism typically starts in one area, most often the eyes, jaw, or neck ...
X-linked dystonia-parkinsonism
semanticscholar   +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

Life‐Threatening Bradycardia in Anti‐NMDA‐Receptor Encephalitis and a Novel Use for Permanent Pacing

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Pediatric anti‐NMDA receptor encephalitis (pNMDARE) is an autoantibody‐mediated disorder that can cause severe autonomic dysfunction, including symptomatic bradycardia and asystole. Dysautonomia can last for years, making it very challenging to manage.
Sarah Tucker, Abhijit Das, Andres Jimenez, Areeba Basit, Yike Jiang, Emily A. Smitherman, Heather Van Mater, Taylor Howard, Alexander J. Sandweiss, Kristen S. Fisher   +9 more
wiley   +1 more source

Function and dysfunction of the dystonia network: an exploration of neural circuits that underlie the acquired and isolated dystonias

Dystonia, 2023
Dystonia is a highly prevalent movement disorder that can manifest at any time across the lifespan. An increasing number of investigations have tied this disorder to dysfunction of a broad “dystonia network” encompassing the cerebellum, thalamus, basal ...
Jason S. Gill, Jason S. Gill, Megan X. Nguyen, Megan X. Nguyen, Mariam Hull, Meike E. van der Heijden, Meike E. van der Heijden, Ken Nguyen, Ken Nguyen, Sruthi P. Thomas, Sruthi P. Thomas, Roy V. Sillitoe, Roy V. Sillitoe, Roy V. Sillitoe, Roy V. Sillitoe   +14 more
doaj   +1 more source

Risk of spread in adult-onset isolated focal dystonia: a prospective international cohort study

Journal of Neurology Neurosurgery & Psychiatry, 2019
Objective Isolated focal dystonia can spread to muscles beyond the initially affected body region, but risk of spread has not been evaluated in a prospective manner.
B. Berman, C. Groth, Stefan H. Sillau, Sarah Pirio Richardson, S. Norris, Johanna Junker, N. Brüggemann, P. Agarwal, R. Barbano, A. Espay, Joaquin A. Vizcarra, C. Klein, T. Bäumer, Sebastian Loens, S. Reich, M. Vidailhet, C. Bonnet, E. Roze, H. Jinnah, J. Perlmutter   +19 more
semanticscholar   +1 more source