Startle Syndromes

Termsarasab, Pichet; Thammongkolchai, Thananan; Katirji, Bashar

doi:10.1007/978-3-030-43059-7_15

Cited by 1 publication

(3 citation statements)

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“…Mutations in the gene encoding the alpha 1 subunit of the glycine receptor ( GLRA1 ) are responsible for the major form [5,6], while a minor form, with only exaggerated startle, could be associated within a single family, without mutation [9]. Sporadic cases do not seem to have a genetic basis and most are symptomatic as a consequence of acute brainstem pathology [10,11,12].…”

Section: Discussionmentioning

confidence: 99%

“…Hyperekplexia can be an hereditary neurological disorder characterised by continuous generalised stiffness in the first year of life and exaggerated startle reflex, accompanied by temporary generalised stiffness and falls [5,6].…”

Section: Discussionmentioning

confidence: 99%

“…It can occur as a rare hereditary disorder, typically caused by a dominant mutation in the alpha 1 sub‐unit of the glycine receptor gene [4]. Besides familial congenital cases, nonhereditary sporadic cases of hyperekplexia have been described, most often associated with brainstem lesions [5]. We report a patient who developed hyperekplexia at the age of 86, with no obvious cause.…”

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Late onset hyperekplexia

Hamelin,

Rohr,

Kahane

et al. 2004

Epileptic Disorders

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We report on the case of an 86‐year‐old woman who rapidly became unable to stand and walk because of jerky movements, suggesting a clinical diagnosis of myoclonus. It was observed that both unexpected and expected stimuli (audiogenic, tactile, or visual) triggered the myoclonic jerks. Electrophysiological exploration, including a coupled EEG‐EMG study, showed the occurrence of a patterned motor response to each stimulation (whatever the modality), consisting of eye blinking, head flexion, abduction of the upper arms, movement of the trunk, and bending of the knees. Given the absence of any relevant past history and lack of biological or neurological abnormalities including on CT scan brain imaging, the diagnosis of late‐onset hyperekplexia was suggested. Substantial abatement of the clinical symptomatology was obtained after introduction of low‐dose clonazepam. [published with videosequences]

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confidence: 99%

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