Results 21 to 30 of about 13,168 (270)

Anaesthetic Implications of Hyperekplexia—'Startle Disease’ [PDF]

Anaesthesia and Intensive Care, 2008
This report describes anaesthesia for consanguineous siblings with the rare genetic condition hyperekplexia. This condition is also known as ‘stiff baby syndrome’ or ‘startle disease’. Hyperekplexia can present in major and minor forms and is caused by a mutation in chromosome 5 which results in a defect in the α-1 subunit of the inhibitory glycine ...
R, Garg, R, Ramachandran, P, Sharma
openaire   +2 more sources

Moyamoya disease with exaggerated startle response: A rare co-occurrence

Annals of Indian Academy of Neurology, 2013
Rajendra Singh Jain, Rahul Jain, Tarun Mathur, B S Raghavendra   +3 more
doaj   +3 more sources

Impaired Glycine Receptor Trafficking in Neurological Diseases

Frontiers in Molecular Neuroscience, 2018
Ionotropic glycine receptors (GlyRs) enable fast synaptic neurotransmission in the adult spinal cord and brainstem. The inhibitory GlyR is a transmembrane glycine-gated chloride channel. The immature GlyR protein undergoes various processing steps, e.g.,
Natascha Schaefer, Vera Roemer, Dieter Janzen, Carmen Villmann   +3 more
doaj   +1 more source

Evidence of Slow Neural Processing, Developmental Differences and Sensitivity to Cannabis Effects in a Sample at Clinical High Risk for Psychosis From the NAPLS Consortium Assessed With the Human Startle Paradigm

Frontiers in Psychiatry, 2020
Biomarkers are important in the study of the prodromal period of psychosis because they can help to identify individuals at greatest risk for future psychotic illness and provide insights into disease mechanism underlying neurodevelopmental abnormalities.
Kristin S. Cadenhead, Erica Duncan, Erica Duncan, Jean Addington, Carrie Bearden, Tyrone D. Cannon, Barbara A. Cornblatt, Barbara A. Cornblatt, Barbara A. Cornblatt, Dan Mathalon, Dan Mathalon, Thomas H. McGlashan, Diana O. Perkins, Diana O. Perkins, Larry J. Seidman, Ming Tsuang, Elaine F. Walker, Scott W. Woods, Peter Bauchman, Ayse Belger, Ricardo E. Carrión, Ricardo E. Carrión, Ricardo E. Carrión, Franc Donkers, Jason Johannesen, Gregory Light, Margaret Niznikiewicz, Jason Nunag, Brian Roach, Brian Roach   +29 more
doaj   +1 more source

Reduced Prepulse Inhibition as a Biomarker of Schizophrenia

Frontiers in Behavioral Neuroscience, 2016
The startle response is composed by a set of reflex behaviors intended to prepare the organism to face a potentially relevant stimulus. This response can be modulated by several factors as, for example, repeated presentations of the stimulus (startle ...
Luis Gonzalo De La Casa, Auxiliadora Mena, Juan Carlos Ruiz-Salas, Andrea Puentes, Inmaculada Dorado, Miguel Ruiz-Veguilla   +5 more
doaj   +1 more source

Familiar Hyperekplexia, a Potential Cause of Cautious Gait: A New Korean Case and a Systematic Review of Phenotypes [PDF]

Journal of Movement Disorders, 2017
Familial hyperekplexia, also called startle disease, is a rare neurological disorder characterized by excessive startle responses to noise or touch. It can be associated with serious injury from frequent falls, apnea spells, and aspiration pneumonia ...
Yoonju Lee, Nan Young Kim, Sangkyoon Hong, Su Jin Chung, Seong Ho Jeong, Phil Hyu Lee, Young H. Sohn   +6 more
doaj   +1 more source

A Presentation of Rare Heidenhain-Variant Creutzfeldt-Jakob Disease

Annals of Internal Medicine: Clinical Cases, 2023
Heidenhain-variant Creutzfeldt-Jakob disease (HV-CJD) is a rare pathologic prion disease characterized by visual symptoms preceding progressive neurodegeneration and death. In HV-CJD, pathologic prions display demyelinating neurotropism for the occipital
Brandon J. Calley, Jesse Fletcher, Alexander Kurdi, Aditya Vuppala, Pinky Jha   +4 more
doaj   +1 more source

Structure/Function Studies of the α4 Subunit Reveal Evolutionary Loss of a GlyR Subtype Involved in Startle and Escape Responses

Frontiers in Molecular Neuroscience, 2018
Inhibitory glycine receptors (GlyRs) are pentameric ligand-gated anion channels with major roles in startle disease/hyperekplexia (GlyR α1), cortical neuronal migration/autism spectrum disorder (GlyR α2), and inflammatory pain sensitization/rhythmic ...
Sophie Leacock, Parnayan Syed, Victoria M. James, Anna Bode, Koichi Kawakami, Angelo Keramidas, Maximiliano Suster, Joseph W. Lynch, Joseph W. Lynch, Robert J. Harvey, Robert J. Harvey   +10 more
doaj   +1 more source

Microarray gene expression profiling of neural tissues in bovine spastic paresis [PDF]

, 2013
Bovine Spastic Paresis (BSP) is a neuromuscular disorder which affects both male and female cattle. BSP is characterized by spastic contraction and overextension of the gastrocnemious muscle of one or both limbs and is associated with a scarce increase ...
Pariset, Lorraine, Cesare EM Gruber, Bicorgna, Silvia, Valentini, Alessio, Alessio Valentini, Prosperini, Gianluca, Chillemi, Giovanni, Susana Bueno, Bongiorni, Silvia, Giovanni Chillemi, Gruber, Cesare E M, Lorraine Pariset, Silvia Bicorgna, Gentile, Arcangelo, Gianluca Prosperini, Bueno, Susana, Silvia Bongiorni, Arcangelo Gentile   +17 more
core   +1 more source

Fingolimod mitigates synaptic deficits and psychosis‐like behavior in APP/PSEN1 mice

Alzheimer’s & Dementia: Translational Research & Clinical Interventions, 2022
Introduction Current treatments for psychosis in Alzheimer's disease (AD), a syndrome characterized by more rapid deterioration and reduced synaptic protein abundance relative to non‐psychotic AD, are inadequate.
Josh M. Krivinko, Susan L. Erickson, Matthew L. MacDonald, Megan E. Garver, Robert A. Sweet   +4 more
doaj   +1 more source