Not every excessive startle is hyperekplexia, the curious case of SOD1
نویسندگان
چکیده
منابع مشابه
HYPEREKPLEXIAAND EXCESSIVE STARTLE RESPONSE IN AN INFANT: A CASE REPORT
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.
متن کاملStartle responses in hereditary hyperekplexia.
BACKGROUND Patients with hereditary hyperekplexia have excessive startle responses that are accompanied by transient stiffness and also continuous stiffness in infancy. A point of mutation has been identified for the major form of hereditary hyperekplexia in the gene encoding the alpha 1 subunit of the glycine receptor. OBJECTIVE To measure startle reflexes and autonomic responses in the majo...
متن کاملStartle disorders of man: hyperekplexia, jumping and startle epilepsy.
Startle is a basic alerting reaction common to all mammals. A rapid reflex not amenable to voluntary control, it was studied extensively by Strauss in 1929 [1], and is the subject of a monograph by Landis and Hunt [2] and a more recent study by Gogan [3]. In the human adult, except for minor interpersonal variations, a stereotyped motor pattern is seen consisting of eye blinking facial grimacin...
متن کاملStartle disease—hyperekplexia (two sibling cases)
Two sisters aged 12 and 13 applied to our hospital with complaints of jerking tonic contraction triggered by sudden noise. Diffuse bilaterally polyspike-wave discharges appeared on waking electroencephalography and during that time a startle-induced tonic contraction was seen. Their neurological examinations and neuro-radiological imaging were normal except for hyperreflexia. We presented these...
متن کاملThe startle pattern in the minor form of hyperekplexia.
BACKGROUND The major and minor forms of hereditary hyperekplexia (HE) are characterized by excessive startle responses, which are accompanied by transient stiffness only in major HE; patients with major HE also have continuous stiffness during infancy. A point mutation has been identified for major HE in the gene encoding the alpha 1 subunit of the glycine receptor but not for minor HE. OBJEC...
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ژورنال
عنوان ژورنال: Brain
سال: 2020
ISSN: 0006-8950,1460-2156
DOI: 10.1093/brain/awz415