Results 11 to 20 of about 81,579 (355)

Optimal deep brain stimulation sites and networks for cervical vs. generalized dystonia

Proceedings of the National Academy of Sciences of the United States of America, 2022
Significance We studied deep brain stimulation effects in two types of dystonia and conclude that different specific connections between the pallidum and thalamus are responsible for optimal treatment effects.
A. Horn, M. Reich, S. Ewert, Ningfei Li, B. Al-Fatly, F. Lange, J. Roothans, Simón Oxenford, I. Horn, S. Paschen, J. Runge, F. Wodarg, K. Witt, R. Nickl, M. Wittstock, G. Schneider, P. Mahlknecht, W. Poewe, W. Eisner, A. Helmers, Cordula Matthies, J. Krauss, G. Deuschl, J. Volkmann, A. Kühn   +24 more
semanticscholar   +1 more source

Approach to the Treatment of Pediatric Dystonia

Dystonia, 2022
Dystonia is the most common movement disorder in the pediatric population. It can affect normal motor development and cause significant motor disability.
C. Gorodetsky, A. Fasano
semanticscholar   +1 more source

Genotype–Phenotype Relations for Isolated Dystonia Genes: MDSGene Systematic Review

Movement Disorders, 2021
This comprehensive MDSGene review is devoted to 7 genes — TOR1A, THAP1, GNAL, ANO3, PRKRA, KMT2B, and HPCA — mutations in which may cause isolated dystonia.
Lara M. Lange, Johanna Junker, Sebastian Loens, Hauke Baumann, L. Olschewski, Susen Schaake, H. Madoev, S. Petkovic, Neele Kuhnke, M. Kasten, A. Westenberger, A. Domingo, C. Marras, I. König, S. Camargos, L. Ozelius, C. Klein, K. Lohmann   +17 more
semanticscholar   +1 more source

Pallidal Deep Brain Stimulation for Monogenic Dystonia: The Effect of Gene on Outcome

Frontiers in Neurology, 2021
Globus pallidus internus deep brain stimulation (GPi DBS) is the most effective intervention for medically refractory segmental and generalized dystonia in both children and adults.
S. Tisch, K. Kumar
semanticscholar   +1 more source

Dystonia updates: definition, nomenclature, clinical classification, and etiology

Journal of neural transmission, 2021
A plethora of heterogeneous movement disorders is grouped under the umbrella term dystonia. The clinical presentation ranges from isolated dystonia to multi-systemic disorders where dystonia is only a co-occurring sign.
Karen Grütz, C. Klein
semanticscholar   +1 more source

Dopa-responsive dystonia

Definitions, 2020
A genetic disorder in females that presents in early childhood and is responsive to dopamine. It is characterized by clubfeet and Parkinsonian symptoms that may progress from lower to upper extremities witha diurnal pattern, and involuntary muscle ...
Masaya Segawa, Y. Nomura, Nobuyoshi Nishiyama   +2 more
semanticscholar   +1 more source

Rapid-onset dystonia-parkinsonism

Definitions, 2020
Rapid-onset dystonia parkinsonism is a rare movement disorder. "Rapid-onset" refers to the abrupt appearance of signs and symptoms over a period of hours to days.

semanticscholar   +1 more source

Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities

Annals of Neurology, 2020
The majority of people with suspected genetic dystonia remain undiagnosed after maximal investigation, implying that a number of causative genes have not yet been recognized. We aimed to investigate this paucity of diagnoses.
D. Steel, M. Zech, Chen Zhao, Katy Barwick, D. Burke, Diane Demailly, K. Kumar, G. Zorzi, N. Nardocci, R. Kaiyrzhanov, M. Wagner, A. Iuso, Riccardo Berutti, M. Škorvánek, J. Necpál, R. Davis, S. Wiethoff, K. Mankad, S. Sudhakar, Arianna Ferrini, Suvasini Sharma, E. Kamsteeg, M. Tijssen, Corien Verschuuren, M. V. van Egmond, J. M. Flowers, M. McEntagart, A. Tucci, P. Coubes, B. Bustos, P. Gonzalez-Latapi, S. Tisch, P. Darveniza, K. Gorman, Kathryn J. Peall, K. Bötzel, J. Koch, T. Kmieć, B. Plecko, S. Boesch, B. Haslinger, R. Jech, B. Garavaglia, N. Wood, H. Houlden, P. Gissen, S. Lubbe, C. Sue, L. Cif, N. Mencacci, G. Anderson, M. Kurian, J. Winkelmann   +52 more
semanticscholar   +1 more source

Dystonia genes functionally converge in specific neurons and share neurobiology with psychiatric disorders

Brain : a journal of neurology, 2020
Dystonia is a neurological disorder characterized by sustained or intermittent muscle contractions causing abnormal movements and postures, often occurring in absence of any structural brain abnormality.
N. Mencacci, R. Reynolds, Sonia Garcia Ruiz, J. Vandrovcova, P. Forabosco, Á. Sánchez-Ferrer, Viola Volpato, J. Botía, Karishma D’Sa, P. Forabosco, S. Guelfi, J. Hardy, J. Vandrovcova, Chris-Ann Mackenzie, A. Ramasamy, M. Ryten, Colin Smith, D. Trabzuni, M. Weale, A. Noyce, R. Kaiyrzhanov, B. Middlehurst, D. Kia, M. Tan, H. Houlden, H. Morris, H. Plun-Favreau, P. Holmans, J. Bras, J. Quinn, K. Mok, K. J. Kinghorn, Kimberley J. Billingsley, N. Wood, P. Lewis, R. Guerreiro, R. Lovering, L. R'bibo, C. Manzoni, M. Rizig, V. Escott-Price, V. Chelban, T. Foltynie, N. Williams, Chingiz Shashakin, N. Zharkinbekova, E. Zholdybayeva, A. Aitkulova, K. Harvey, M. Weale, K. Bhatia, C. Webber, J. Hardy, J. Botía, M. Ryten   +54 more
semanticscholar   +1 more source

Development of a highly sensitive immunohistochemical method to detect neurochemical molecules in formalin-fixed and paraffin-embedded tissues from autopsied human brains

Frontiers in Neuroanatomy, 2015
Immunohistochemistry (IHC) is a valuable method for identifying discrete neurochemical molecules by the interaction of target antigens with validated antibodies tagged with a visible label (e.g., peroxidase).
Satoshi eGoto, Satoshi eGoto, Satoshi eGoto, Ryoma eMorigaki, Shinya eOkita, Shinji eNagahiro, Ryuji eKaji   +6 more
doaj   +1 more source