Get 20M+ Full-Text Papers For Less Than $1.50/day. Start a 14-Day Trial for You or Your Team.

Learn More →

Hyperekplexia and the α1 Subunit Glycine Receptor Gene (GLRA1)

Hyperekplexia and the α1 Subunit Glycine Receptor Gene (GLRA1) Abstract Hyperekplexia or startle disease (SD) is a rare neurological disorder characterized by an exaggerated and persistent startle response to unexpected visual, auditory, and proprioceptive stimuli. Hypertonia can also be present, particularly in the neonatal period.1 Two different forms of SD have been recognized. The major form is characterized by excessive startle reactions followed by a short period of generalized hypertonia and the minor form, where hypertonia is not observed. Although in most of the families who have been described, SD shows autosomal dominant inheritance with almost complete penetrance,2 evidence for recessive transmission has also been reported.3 Two different missense mutations (G1192A, G1192T) in the same base pair of exon 6 of GLRA1 have been found in 4 of 7 American families with SD.4 Independent investigators3,5 have also found these mutations segregating in Swiss (G1192T) and British (G1192A) families with SD. In addition, Rees et al References 1. Andermann F, Keene DL, Andermann E, et al. Startle disease or hyperekplexia: further delineation of the syndrome . Brain . 1980;103:985-997.Crossref 2. Tijssen MAJ, Shiang R, van Deutekom J, et al. Molecular genetic reevaluation of the Dutch hyperekplexia family . Arch Neurol . 1995;52:578-582.Crossref 3. Rees MI, Andrew M, Jawad S, Owen JM. Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the α1 subunit of the inhibitory glycine receptor . Hum Mol Gene . 1994;3:2175-2179.Crossref 4. Shiang R, Ryan SG, Zhu YZ, Hahn AF, O'Connell P, Wasmuth JJ. Mutations in the α1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia . Nat Genet . 1993;5:351-358.Crossref 5. Schorderet DF, Pescia G, Bernasconi A, Regli F. An additional family with startle disease and a G1192A mutation at the α1 subunit of the inhibitory glycine receptor gene . Hum Mol Gen . 1994;3:1201.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Neurology American Medical Association

Hyperekplexia and the α1 Subunit Glycine Receptor Gene (GLRA1)

Download PDF
2 pages

Loading next page...
 
/lp/american-medical-association/hyperekplexia-and-the-1-subunit-glycine-receptor-gene-glra1-WvnuAga4Ar

References (5)

Publisher
American Medical Association
Copyright
Copyright © 1996 American Medical Association. All Rights Reserved.
ISSN
0003-9942
eISSN
1538-3687
DOI
10.1001/archneur.1996.00550090018003
Publisher site
See Article on Publisher Site

Abstract

Abstract Hyperekplexia or startle disease (SD) is a rare neurological disorder characterized by an exaggerated and persistent startle response to unexpected visual, auditory, and proprioceptive stimuli. Hypertonia can also be present, particularly in the neonatal period.1 Two different forms of SD have been recognized. The major form is characterized by excessive startle reactions followed by a short period of generalized hypertonia and the minor form, where hypertonia is not observed. Although in most of the families who have been described, SD shows autosomal dominant inheritance with almost complete penetrance,2 evidence for recessive transmission has also been reported.3 Two different missense mutations (G1192A, G1192T) in the same base pair of exon 6 of GLRA1 have been found in 4 of 7 American families with SD.4 Independent investigators3,5 have also found these mutations segregating in Swiss (G1192T) and British (G1192A) families with SD. In addition, Rees et al References 1. Andermann F, Keene DL, Andermann E, et al. Startle disease or hyperekplexia: further delineation of the syndrome . Brain . 1980;103:985-997.Crossref 2. Tijssen MAJ, Shiang R, van Deutekom J, et al. Molecular genetic reevaluation of the Dutch hyperekplexia family . Arch Neurol . 1995;52:578-582.Crossref 3. Rees MI, Andrew M, Jawad S, Owen JM. Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the α1 subunit of the inhibitory glycine receptor . Hum Mol Gene . 1994;3:2175-2179.Crossref 4. Shiang R, Ryan SG, Zhu YZ, Hahn AF, O'Connell P, Wasmuth JJ. Mutations in the α1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia . Nat Genet . 1993;5:351-358.Crossref 5. Schorderet DF, Pescia G, Bernasconi A, Regli F. An additional family with startle disease and a G1192A mutation at the α1 subunit of the inhibitory glycine receptor gene . Hum Mol Gen . 1994;3:1201.Crossref

Journal

Archives of Neurology – American Medical Association

Published: Sep 1, 1996

There are no references for this article.