Results 61 to 70 of about 59,798 (297)

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

Central neuraxial anaesthesia presenting with spinal myoclonus in the perioperative period: a case series

Journal of Medical Case Reports, 2009
Introduction Perioperative spinal myoclonus is extremely rare. Many anaesthetists and perioperative practitioners may not diagnose or manage this complication appropriately when it occurs.
Bamgbade Olumuyiwa A, Alfa John A, Khalaf Wael M, Zuokumor Andrew P   +3 more
doaj   +1 more source

Comparative study of midazolam and fentanyl for the prevention of etomidate-induced myoclonus

Asian Journal of Medical Sciences, 2023
Background: Etomidate is one of the popular rapidly acting inducing agents with cardio-stable profile but associated with side effects such as myoclonus. Myoclonus can lead to regurgitation, prolapse of vitreous in open globe or many other complications.
Sophiya Rasool , Radha Gupta , Sukriti Prakash   +2 more
doaj   +1 more source

Variably Protease‐Sensitive Prionopathy: Two New Cases With Motor Neuron‐Dementia Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We describe two patients with variably protease‐sensitive prionopathy (VPSPr) who developed progressive upper motor neuron symptoms, insomnia, behavioral and cognitive decline, compatible with primary lateral sclerosis associated with frontotemporal dementia (FTD).
María Elena Erro, María Victoria Zelaya, Hasier Eraña, Javier Sánchez Ruiz de Gordoa, Fermín García‐Amigot, Anika Simonovska‐Serra, María Cristina Caballero, Isidre Ferrer, Ellen Gelpi, Ivonne Jericó, Joaquín Castilla   +10 more
wiley   +1 more source

Adult‐Onset Subacute Sclerosing Panencephalitis Presenting With Subacute Cognitive Deficits

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We describe the case of a 41‐year‐old man diagnosed with adult‐onset subacute sclerosing panencephalitis (SSPE). The patient presented with subacute progressive cognitive deficits and a neuropsychological profile indicating predominant frontoparietal dysfunction. MRI showed only mild parietal‐predominant cerebral atrophy.
Dennis Yeow, Nicola McKern, Vincent Oxenham, Kate Ahmad, Omar Ahmad   +4 more
wiley   +1 more source

Nomenclature of Genetically Determined Myoclonus Syndromes: Recommendations of the International Parkinson and Movement Disorder Society Task Force

Movement Disorders, 2019
Genetically determined myoclonus disorders are a result of a large number of genes. They have wide clinical variation and no systematic nomenclature. With next‐generation sequencing, genetic diagnostics require stringent criteria to associate genes and ...
S. van der Veen, R. Zutt, C. Klein, C. Marras, S. Berkovic, J. Caviness, H. Shibasaki, T. D. de Koning, M. Tijssen   +8 more
semanticscholar   +1 more source

Corticobasal syndrome: neuroimaging and neurophysiological advances [PDF]

, 2019
Corticobasal degeneration (CBD) is a neurodegenerative condition characterized by 4R-tau protein deposition in several brain regions that clinically manifests itself as a heterogeneous atypical parkinsonism typically expressing in the adulthood.
Asci, Francesco, Berardelli, Alfredo, Bologna, Matteo, Colosimo, Carlo, Di Stasio, Flavio, Fabbrini, Giovanni, Marsili, Luca, Pantano, Patrizia, Suppa, Antonio, Upadhyay, Neeraj   +9 more
core   +1 more source

Discovery of a Novel and Potent Kir4.1 Inhibitor as a Safe and Rapid‐Onset Antidepressant Agent in Mice

Advanced Science, EarlyView.
The preferred derivative JX3212 demonstrates strong inhibitory activity against Kir4.1 with favorable druggability and shows significant antidepressant efficacy in vivo. Abstract Major depressive disorder is a serious psychiatric disorder for which novel and fast‐acting antidepressants are required.
Sisi Wang, Xiaoyu Zhou, Mengdan Li, Chao Zhang, Haiyan Xu, Jingyi He, Li Zhan, Yueling Gu, Hao Gu, Tianyu Tu, Hanfang Liu, Taotao Lu, Yueming Zheng, Jian Li, Zhaobing Gao, Yixiang Xu   +15 more
wiley   +1 more source

To study the effect of three different doses of dexmedetomidine as premedication on the incidence and severity of etomidate-induced myoclonus

The Indian Anaesthetists' Forum, 2023
Background and Aims: Etomidate, a carboxylated imidazole is a rapid-acting nonbarbiturate, nonopioid hypnotic agent that has unique hemodynamic stability, favorable toxic profile, and rapid recovery after a single dose.
Ketki Kaushal, Anita Kumari, Pooja Abbi, Ruchi Gupta   +3 more
doaj   +1 more source

Lafora disease offers a unique window into neuronal glycogen metabolism [PDF]

, 2018
Lafora disease (LD) is a fatal, autosomal recessive, glycogen-storage disorder that manifests as severe epilepsy. LD results from mutations in the gene encoding either the glycogen phosphatase laforin or the E3 ubiquitin ligase malin. Individuals with LD
Gentry, Matthew S., Guinovart, Joan J., Minassian, Berge A., Roach, Peter J., Serratosa, Jose M.   +4 more
core   +2 more sources