OBJECTIVES To confirm linkage of the locus of the major form of hyperekplexia to markers on chromosome 5q, to screen for a point mutation in the gene encoding the alpha 1 subunit of the glycine receptor, and to investigate whether the putative "minor" form of hyperkeplexia consisting of an excessive startle response without stiffness, is based on the same genetic defect as the major form. DES...

The startle response, consisting of behavioral and cardiovascular components, was used to study the reaction of the cardiovascular system to a mild environmental stressor. We used tactile air puff startle to study responses in adult Wistar-Kyoto and spontaneously hypertensive rats. In both strains, air puff elicits a transient motor response with rapid habituation over the test session of 30 tr...

we present an infant girl with hyperekplexia, hypertonia, hyperreflexia and a characteristic exaggerated response to nose tap. this disorder is important to recognize because of the increased risk of apnea and sudden infant death, this infant responded to clonazepam.

hyperekplexia is a rare non-epileptic disorder characterized by an exaggerated and persistent startle reaction to the unexpected tactile and acoustic stimuli. the disorder is occasionally associated with generalized muscular rigidity and has the clinical hallmark of positive nose tapping test. the disease is inherited in an autosomal dominant fashion.  recessively inherited and sporadic forms o...

BACKGROUND People with autism spectrum disorders (ASD) are known to have enhanced auditory perception, however, acoustic startle response to weak stimuli has not been well documented in this population. The objectives of this study are to evaluate the basic profile of acoustic startle response, including peak startle latency and startle magnitude to weaker stimuli, in children with ASD and typi...

Startle habituation is present in all startle studies, whether as a dependent variable, discarded habituation block, or ignored nuisance. However, there is still much that remains unknown about startle habituation, including the following: (1) what is the nature of the startle habituation curve?; (2) at what point does startle habituation approach an asymptote?; and (3) are there gender differe...

The acoustic startle reflex is a sensitive index of "anxiety" and "fear." Potentiation of startle by conditioned and unconditioned fear stimuli appears to be mediated by the amygdala. CholecystokininB (CCKB) agonists increase "anxiety" in laboratory animals and induce "panic" in humans. Here, we investigate the role CCKB receptor-mediated mechanisms in the amygdala in the potentiation of startl...

Hyperekplexia is a rare non-epileptic disorder characterized by an exaggerated and persistent startle reaction to the unexpected tactile and acoustic stimuli. The disorder is occasionally associated with generalized muscular rigidity and has the clinical hallmark of positive nose tapping test.The disease is inherited in an autosomal dominant fashion.  Recessively inherited and sporadic forms of...

Hyperekplexia (startle disease) is a rare non-epileptic neurological entity resulting from gene mutation. The onset of this disorder is usually in infancy, but can be delayed until early adulthood. Patients with this disorder usually have normal mental development. Patients with hyperekplexia may present with symptoms ranging from sub-syndromal anxiety, to symptoms of syndromal anxiety disorder...

The startle reflex is attenuated and potentiated when participants are viewing pleasant and unpleasant images, respectively. Research demonstrates that threatening contexts also potentiate startle, but it remains unclear how a threatening context might impact startle modulation to emotional images, especially as a function of trait anxiety. The present study measured startle reactivity while 43...