Results 1 to 10 of about 2,535,115 (155)

ATP1A3 mutation in rapid-onset dystonia parkinsonism: New data and genotype-phenotype correlation analysis [PDF]

Frontiers in Aging Neuroscience, 2022
BackgroundRapid-onset dystonia parkinsonism (RDP) is a rare disease caused by ATP1A3 mutation with considerable clinical heterogeneity. Increased knowledge of RDP could be beneficial in its early diagnosis and treatment.ObjectiveThis study aimed to ...
Lihua Yu, Guoping Peng, Yuan Yuan, Min Tang, Ping Liu, Xiaoyan Liu, Jie Ni, Yi Li, Caihong Ji, Ziqi Fan, Wenli Zhu, Benyan Luo, Qing Ke   +12 more
doaj   +4 more sources

In vitro study of ATP1A3 p.Ala275Pro mutant causing alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism [PDF]

Frontiers in Neuroscience
IntroductionWe previously reported that ATP1A3 c.823G>C (p.Ala275Pro) mutant causes varying phenotypes of alternative hemiplegia of childhood and rapid-onset dystonia-parkinsonism in the same family.
Dan-dan Ruan, Jing Zou, Li-sheng Liao, Li-sheng Liao, Ming-dong Ji, Ruo-li Wang, Ruo-li Wang, Jian-hui Zhang, Li Zhang, Li Zhang, Mei-zhu Gao, Mei-zhu Gao, Qian Chen, Hong-ping Yu, Wen Wei, Yun-fei Li, Yun-fei Li, Hong Li, Fan Lin, Fan Lin, Jie-wei Luo, Xin-fu Lin, Xin-fu Lin   +22 more
doaj   +4 more sources

Rapid-onset dystonia-parkinsonism is associated with reduced cerebral blood flow without gray matter changes [PDF]

Frontiers in Neurology, 2023
PurposePrevious research showed discrete neuropathological changes associated with rapid-onset dystonia-parkinsonism (RDP) in brains from patients with an ATP1A3 variant, specifically in areas that mediate motor function. The purpose of this study was to
Christopher T. Whitlow, Christopher T. Whitlow, Christopher T. Whitlow, Christopher T. Whitlow, Kyle M. Atcheson, Beverly M. Snively, Beverly M. Snively, Jared F. Cook, Jeongchul Kim, Ihtsham U. Haq, Kathleen J. Sweadner, Laurie J. Ozelius, Allison Brashear   +12 more
doaj   +2 more sources

Neurological and psychiatric characterization of rapid-onset dystonia-parkinsonism over time. [PDF]

Parkinsonism Relat Disord
The onset of symptoms in Rapid-onset dystonia-parkinsonism (RDP) is typically over days to weeks and is often triggered by stressors like fever or childbirth.
Haq IU, Napoli E, Snively BM, Sarno ML, Sweadner KJ, Ozelius LJ, Brashear A.   +6 more
europepmc   +3 more sources

Functional impact of the ATP1A3-p.A813V variant: insights into a calcium-driven hyperexcitability cascade in rapid-onset dystonia-Parkinsonism [PDF]

Journal of Translational Medicine
Background Mutations in the neuronal Na+/K+-ATPase subunit ATP1A3 are linked to a spectrum of neurological disorders, including rapid-onset dystonia-parkinsonism (RDP), yet their pathogenic mechanisms remain incompletely understood.
Su Min Lim, Suhyun Kim, Jinseok Park, Young-Eun Kim, Ok Cho Na, Minyeop Nahm, Min-Young Noh, Ki-Wook Oh, Chang-Seok Ki, Woong-Hee Shin, Hae-Chul Park, Seung Hyun Kim   +11 more
doaj   +2 more sources

Acute Post-Partum Psychosis and Dystonia Reveals Late-Onset MPAN. [PDF]

Mov Disord Clin Pract
Movement Disorders Clinical Practice, EarlyView.
Lachaume M, Schalk A, Calmels N, Tranchant C, de Andrade O, Berna F, Anheim M, Wirth T.   +7 more
europepmc   +2 more sources

Aberrant Purkinje cell activity is the cause of dystonia in a shRNA-based mouse model of Rapid Onset Dystonia–Parkinsonism

Neurobiology of Disease, 2015
Loss-of-function mutations in the α3 isoform of the sodium pump are responsible for Rapid Onset Dystonia–Parkinsonism (RDP). A pharmacologic model of RDP replicates the most salient features of RDP, and implicates both the cerebellum and basal ganglia in
Rachel Fremont, Ambika Tewari, Kamran Khodakhah   +2 more
doaj   +3 more sources

Early Cervical and Orofacial Variable Dystonia in Levodopa-Naïve PRKN Parkinson's Disease. [PDF]

Mov Disord Clin Pract
Movement Disorders Clinical Practice, Volume 13, Issue 9, Page 2293-2296, September 2026.
Gallagher A, Redmond A, McKinley J, Inocentes J, Olszewska DA, Fearon C, Lynch T.   +6 more
europepmc   +2 more sources

Failure of Sequential Pallidal and Motor Thalamus DBS for Rapid-Onset Dystonia-Parkinsonism (DYT12). [PDF]

Mov Disord Clin Pract, 2018
Fearon C, McKinley J, McCarthy A, Rebelo P, Goggin C, Magennis B, Aziz T, Green AL, Lynch T.   +8 more
europepmc   +2 more sources

Atypical Presentation of Rapid-onset Dystonia-parkinsonism (DYT12) Unresponsive to Deep Brain Stimulation of the Subthalamic Nucleus. [PDF]

Mov Disord Clin Pract, 2018
Weber J, Piroth T, Rijntjes M, Jung B, Reinacher PC, Weiller C, Coenen VA, Klebe S.   +7 more
europepmc   +2 more sources