Results 91 to 100 of about 2,535,115 (155)

Phenotypic comparison between combined dystonia-parkinsonism and idiopathic adult-onset dystonia

The clinical characteristics of dystonia occurring in association with sporadic neurodegenerative parkinsonism have not been systematically explored or compared with those of idiopathic adult-onset dystonia.
Velucci, Vittorio, Altavista, Maria Concetta, Esposito, Marcello, Zibetti, Maurizio, Squintani, Giovanna, Erro, Roberto, Fabbrini, Giovanni, Cotelli, Maria Sofia, Belvisi, Daniele, Pellicciari, Roberta, Idrissi, Sarah, Cassano, Daniela, Schirinzi, Tommaso, Castagna, Anna, Barbero, Pierangelo, Ceravolo, Roberto, Magistrelli, Luca, Muroni, Antonella, Berardelli, Alfredo, Trinchillo, Assunta, Mascia, Marcello Mario, Ferrazzano, Gina, Pisani, Antonio, Defazio, Giovanni, Terranova, Carmen, Marinelli, Lucio   +25 more
core   +1 more source

Atypical presentation of rapid-onset dystonia-parkinsonism in a toddler with a novel mutation in the ATP1A3 gene. [PDF]

BMJ Case Rep, 2021
Ganesh A, Sivakumar S, Manokaran R, Narasimhan U.   +3 more
europepmc   +1 more source

Deprescription of Psychotropics in Children and Adolescents: Systematic Review of Guidelines and Development of a Deprescribing Algorithm

Basic &Clinical Pharmacology &Toxicology, Volume 139, Issue 3, September 2026.
ABSTRACT Background Psychotropics are increasingly prescribed in paediatrics despite limited evidence regarding their benefits and effectiveness. Although deprescribing approaches are established in adults, structured paediatric strategies remain poorly defined.
Paul‐Benoît Fargier, Mark Horowitz, Rodolphe Charles, Valérie Rousselon, Erik Fakra, Marie‐Noëlle Beyens, Marie‐Laure Laroche   +6 more
wiley   +1 more source

Rapid-Onset Dystonia-Parkinsonism Phenotype Consistency for a Novel Variant of ATP1A3 in Patients Across 3 Global Populations. [PDF]

Neurol Genet, 2021
Hoshino K, Sweadner KJ, Kawarai T, Saute JA, Saute JA, Freitas J, Damásio J, Donis KC, Kimura K, Fukuda H, Hayashi M, Higuchi T, Ikeda Y, Ozelius LJ, Kaji R.   +14 more
europepmc   +1 more source

Expanding Spectrum of FIG4‐Related Neurological Disorders of Lysosomal Homeostasis: Case Report and Overview of the Potential Genotype–Phenotype Correlations

Clinical Genetics, Volume 110, Issue 3, Page 363-368, September 2026.
FIG4 is essential for lysosomal homeostasis. FIG4‐related disorders present as a continuous spectrum from the juvenile lethality in Yunis‐Varon syndrome to an increased risk of amyotrophic lateral sclerosis (ALS) in adult life. FIG4‐related disorders comprise a novel group of disorders of lysosomal homeostasis and can be classified into severe ...
Pankaj Prasun, Matthew Rasberry
wiley   +1 more source

Unraveling the neural substrates of Rapid Onset Dystonia Parkinsonism

, 2009
Rapid Onset Dystonia Parkinsonism (RDP) is an inherited autosomal dominant movement disorder characterized by the rapid onset of combined dystonia and parkinsonism.
Calderon Martinez, Diany Paola
core  

Long‐Term Trajectories of Multidimensional Outcomes in Psychosis Following Early Intervention During the Critical Period: The PEPP‐Montreal 10+ Study Protocol

Early Intervention in Psychiatry, Volume 20, Issue 9, September 2026.
ABSTRACT Introduction While early intervention services (EIS) have demonstrated short‐term benefits, the long‐term maintenance of these gains remains uncertain. Individuals with first‐episode psychosis exhibit significant variability in their course of recovery.
Olivier Percie du Sert, Joseph Ghanem, Vanessa McGrory, Karyne Anselmo, Kelly K. Anderson, Srividya Iyer, Ridha Joober, Jai Shah, Ashok Malla, Martin Lepage   +9 more
wiley   +1 more source

Differential Response of Dystonia and Parkinsonism following Globus Pallidus Internus Deep Brain Stimulation in X-Linked Dystonia-Parkinsonism (Lubag)

, 2010
<i>Background:</i> X-linked dystonia-parkinsonism (XDP; DYT3; Lubag) is an adult-onset hereditary progressive dystonia/parkinsonism which is typically minimally responsive to pharmacological treatment.
Pam Zeilman, Charles E. Jacobson, IV, Genko Oyama, Ramon L. Rodriguez, Irene A. Malaty, Hubert H. Fernandez, Kelly D. Foote, Nelson Hwynn, Michael S. Okun   +8 more
core   +1 more source

Mutations in the Na+/K+-ATPase alpha 3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism

, 2004
Rapid-onset dystonia-parkinsonism (RDP, DYT12) is a distinctive autosomal-dominant movement disorder with variable expressivity and reduced penetrance characterized by abrupt onset of dystonia, usually accompanied by signs of parkinsonism.
Penniston, JT, Caton, M, Zaremba, J, Sweadner, KJ, Borg, M, Liu, L, Tijssen, MAJ, Brashear, A, Aguiar, PD, Dobyns, WB, Ozelius, LJ, Linazasoro, G, Bressman, SB   +12 more
core  

Paroxysmal features responding to flunarizine in a child with rapid-onset dystonia-parkinsonism

, 2014
Genetic research has shown that mutations that modify the protein-coding sequence of ATP1A3, the gene encoding the α3 subunit of Na(+)/K(+)-ATPase, cause both rapid-onset dystonia parkinsonism and alternating hemiplegia of childhood.
Tiziano, Francesco Danilo
core   +1 more source