Hyperekplexia-like syndromes without mutations in the GLRA1 gene

Clinical Neurology and Neurosurgery

Volumn 99, Issue 3, 1997, Pages 172-178

  Vergouwe, M N ^a,b   Tijssen, M A J ^b   Shiang, R ^c   Van Dijk, J G ^b   Shahwan, Saad Al ^d   Ophoff, R A ^a,b   Frants, R R ^a  

^a LEIDEN UNIVERSITY   (Netherlands)

^b LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d Prince Sultan Military Medical City   (Saudi Arabia)

Author keywords

Haplotype analysis; Hyperekplexia like syndromes; Mutation analysis of the GLRA1 gene

Indexed keywords

AMINO ACID; GLYCINE RECEPTOR; RECEPTOR SUBUNIT;

ARTICLE; AUDITORY STIMULATION; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME 5Q; CLINICAL ARTICLE; EXON; FEMALE; GENE MAPPING; GENE MUTATION; GENETIC ANALYSIS; GENETIC LINKAGE; GENETIC POLYMORPHISM; HAPLOTYPE; HUMAN; INTRON; MALE; NEUROLOGIC DISEASE; RECESSIVE INHERITANCE; RIGIDITY; STARTLE EPILEPSY; STARTLE REFLEX; VOLUNTARY MOVEMENT;

ADULT; CHILD, PRESCHOOL; FEMALE; GENETIC MARKERS; HAPLOTYPES; HUMANS; INFANT; MALE; MUSCLE RIGIDITY; NETHERLANDS; PEDIGREE; POINT MUTATION; POLYMORPHISM, GENETIC; RECEPTORS, GLYCINE; REFLEX, ABNORMAL; STARTLE REACTION; SYNDROME;

EID: 0030864920     PISSN: 03038467     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0303-8467(97)00022-X     Document Type: Article

References (38)

1. Suhren O, Bruyn GW, Tuynman A. Hyperexplexia, a hereditary startle syndrome. J Neurol Sci 1966;3:577-605,
2. Andermann F, Keene DL, Andermann E, Quesney LF. Startle disease or hyperekplexia: further delineation of the syndrome. Brain 1980;103:985-997.
3. Morley DJ, Weaver DD, Garg BP, Markand O. Hyperekplexia: an inherited disorder of startle response. Clin Genet 1982;21:388-396.
4. Shahar E, Brand N. Uziel Y, Barak Y. Nose tapping test inducing a generalized flexor spasm: a hallmark of Hyperekplexia. Acta Paed Scand 1991;80:1073-1077.
5. Hayashi T, Tachibana H, Kajii T. Hyperekplexia: pedigree studies in two families. Am J Med Genet 1991;40:138-143.
6. Saenz-Lope E. Herranz-Tanarro FJ, Masdeu JC, Chacon Pena, JR. Hyperexplexia: a syndrome of pathological startle responses. Ann Neurol 1984;15:36-41.
7. Ryan SG, Dixon MJ, Nigro MA, Kelts K A, Markand ON. Terry JC, Shiang R, Wasmuth JJ, O'Connel P. Genetic and radiation hybrid mapping of the hyperekplexia region on chromosome 5q. Am J Hum Genet 1992;51:1334-1343.
8. Brown P, Rothwell JC, Thompson PD, Britton TC, Day BL, Marsden CD. The hyperekplexias and their relationship to the normal startle reflex. Brain 1991;114:1903-1928.
9. Klein R, Haddow JE, DeLuca C. Familial congenital disorder resembling stiff-man syndrome. Am J Dis Child 1972;124:730-732.
10. Lingam S, Wilson J, Hart EW. Hereditary stiff-baby syndrome. Am J Dis Child 1981;135:909-911.
11. Pascotto A, Coppola G. Neonatal hyperekplexia: a case report. Epilepsia 1992;33:817-820.
12. Giacoia GP. Ryan SG. Hyperekplexia associated with apnea and sudden infant death syndrome. Arch Pediatr Adolesc Med 1994;148:540-544.
13. Ryan SG, Sherman SL, Terry JC, Sparkes RS, Torres, MC, Mackey RW. Startle disease, or hyperekplexia: response to clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysis. Ann Neurol 1992;31:663-668.
14. Rajendra S, Schofield PJ. Molecular mechanisms of inherited startle syndromes. TINS 1995;18:80-82.
15. Betz H. Glycine receptors: heterogeneous and widespread in the mammalian brain. TINS 1991;10:458-62.
16. Shiang R, Ryan SG, Zhu Y, Hahn AF, O'Connell P. Wasmuth JJ. Mutations in the alpha-1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia. Nat Genet 1993;5:351-358.
17. Grenningloh G, Pribilla I, Prior P. Multhaup G, Beyreuther, K, Taleb O, Betz H. Cloning and expression of the 58 kd beta-sub-unit of the inhibitory glycine receptor. Neuron 1990;4:963-970.
18. Shiang R, Ryan SG, Zhu YZ, Fielder TJ, Allen RJ. Fryer A, Yamashita S, O'Connell P. Wasmuth JJ. Mutational analysis of familial and sporadic hyperekplexia. Ann Neurol 1995;38:85-91.
19. Langosch D, Laube B. Rundström N, Schmieden V, Bormann J. Betz H. Decreased agonist affinity and chloride conductance of mutant glycine receptors associated with human hereditary hyperekplexia. EMBO J 1994;13:4223-4228.
20. Rajendra S, Lynch JW, Pierce KD, French CR, Barry PH, Schofield PR. Mutation of an arginine residue in the human glycine receptor transforms β-alanine and taurine from agonists into competitive antagonists. Neuron 1995;14:169-175.
21. Tijssen M. AJ. Shiang R, Deutekom J, van Boerman RH, Wasmuth JJ. Sandkuijl LA, Frants RR, Padberg GW. Molecular genetic reevaluation of the Dutch hyperekplexia family. Arch Neurol 1995;52:578-82.
22. Milani N. Dalprá L, Prete A, del Zanini R, Larizza L. A novel mutation (Gln266→His) in the alpha-1 subunit of the inhibitory glycine receptor gene (GLRA1) in hereditary hyperekplexia. Am J Hum Genet 1996;58:420-422.
23. Dubowitz LMS, Bouza H, Hird MF, Jaeken J. Low cerebrospinal fluid concentration of free gamma-aminobutyric acid in startle disease. Lancet 1992;340:80-81.
24. Stephenson JBP. Vigabatrin for startle disease with altered cerebrospinal-fluid free gamma-aminobutyric acid. Lancet 1992;340:430-431.
25. Berthier M, Bonneau D, Desbordes JM, Chevrel J, Oriot D, Jaeken J. Laborit H. Possible involvement of a gamma-hydroxybutyric acid receptor in startle disease. Acta Paediatr 1994;83:678-680.
26. Melki I, Rizkallah E, Akatcherian C. L'hyperexplexia: la maladie du sursaut. Pédiatrie 1988;43:35-37.
27. Rees MI, Andrew M, Jawad S, Owen MJ. Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the alpha-1 subunit of the inhibitory glycine receptor. Hum Mol Gen 1994;3:2175-2179.
28. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215.
29. Grenningloh G, Schmieden V, Schofield PR. Seeburg PH, Siddique T, Mohandas TK, Becker CM, Betz H. Alpha subunit variants of the human glycine receptor: primary structures, functional expression and chromosomal localization of the corresponding genes. EMBO J 1990;9:771-776.
30. Smit M, Knijff P, de Rosseneu M, Bury J, Klasen E, Frants R, Havekes L. Apolipoprotein E polymorphism in The Netherlands and its effect on plasma lipid and apolipoprotein levels. Hum Genet 1988;80:287-292.
31. Groen JHM, de Kamphuisen HAC. Periodic nocturnal myoclonus in a patient with hyperekplexia (startle disease). J Neurol Sci 1978;38:207-213.
32. Sheffield VC, Cox DR. Lerman LS, Meyers RM. Attachment of a 40-base-pair G + C-rich sequence [GC-clamp] to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes. Proc Natl Acad Sci USA 1989:86:232-236.
33. Ryan SG, Buckwalter MS. Lynch JW. Handford CA, Segura, L, Shiang R, Wasmuth JJ, Camper SA, Schofield P, O'Connell, P. A missense mutation in the gene encoding the alpha-1 subunit of the inhibitory glycine receptor in the spasmodic mouse. Nat Genet 1994:7:131-135.
34. Becker CM, Schmieden V, Tarroni P, Strasser U, Betz H. Isoform-selective deficit of glycine receptors in the mouse mutant spastic. Neuron 1992;8(2):283-289.
35. Kingsmore SF, Giros B, Suh D, Bieniarz M, Caron MG, Seldin MF. Glycine receptor β-subunit gene mutation in spastic mouse associated with LINE-1 element insertion. Nat Genet 1994:7:136-141.
36. Kingsmore SF, Suh D, Seldin MF. Genetic mapping of the glycine receptor alpha-3 subunit on mouse chromosome 8. Mamm Genome 1994;5:831-832.
37. Kuhse J, Schmieden V, Betz H. Identification and functional expression of a novel ligand binding subunit of the inhibitory glycine receptor. J Biol Chem 1990;265:22317-22320.
38. Lynch JW, Rajendra S, Pierce KD, Handford CA, Barry PH, Schofield PR. Identification of intracellular and extracellular domains mediating signal transduction in the inhibitory glycine chloride channel. EMBO 1997;16:110-120.