Cardiff University | Prifysgol Caerdydd ORCA
Online Research @ Cardiff 
WelshClear Cookie - decide language by browser settings

Hyperekplexia: abnormal startle response due to glycine receptor mutations

Andrew, M. and Owen, Michael John 1997. Hyperekplexia: abnormal startle response due to glycine receptor mutations. British Journal of Psychiatry 170 , pp. 106-108. 10.1192/bjp.170.2.106

Full text not available from this repository.
Official URL: http://bjp.rcpsych.org/

Abstract

BACKGROUND: Hyperekplexia is a rare but well-delineated clinical syndrome of pathological startle response and neonatal hypertonia. Many cases result from mutations in the alpha 1 subunit of the glycine receptor (GLRA 1). METHOD: The clinical features, management and recent genetic studies of hyperekplexia are reviewed. RESULTS: Diagnosis of the disorder should not be difficult, if one is aware of the syndrome. The treatment of first choice is with the benzodiazepine drug clonazepam, which often causes a dramatic although incomplete diminution of startle. Both recessive and dominant mutations in GLRA 1 have been found in affected individuals. The study of mouse mutants with startle phenotypes suggests that the remainder of cases may well be due to mutations in the beta subunit of the glycine receptor. CONCLUSIONS: Hyperekplexia is the first human disease shown to result from mutations within a neurotransmitter gene. The demonstration of both dominant and recessive inheritance resulting from different mutations in the same gene is of considerable interest, as other neuropsychiatric disorders may result from mutations in ligand-gated ion channels. Mutation analysis of GLRA 1 is also likely to be useful as an aid to genetic counselling and in diagnostic evaluation of neonatal hypertonia.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Neuroscience and Mental Health Research Institute (NMHRI)
Subjects: R Medicine > R Medicine (General)
Publisher: Royal College of Psychiatrists
ISSN: 0007-1250
Last Modified: 04 Jun 2017 08:38
URI: http://orca-mwe.cf.ac.uk/id/eprint/81914

Actions (repository staff only)

Edit Item Edit Item