| | |  | | | | Record from Web of Science® | | | | | | |
| STARTLE DISEASE, OR HYPEREKPLEXIA - RESPONSE TO CLONAZEPAM AND ASSIGNMENT OF THE GENE (STHE) TO CHROMOSOME-5Q BY LINKAGE ANALYSIS |
|
|
| Author(s): RYAN SG, SHERMAN SL, TERRY JC, SPARKES RS, TORRES MC, MACKEY RW |
| Source: ANNALS OF NEUROLOGY Volume: 31 Issue: 6 Pages: 663-668 Published: JUN 1992 |
| Times Cited: 88 References: 44 |
| Abstract: Familial startle disease (also known as hyperekplexia and congenital "stiff-man" syndrome) is an autosomal dominant disorder characterized by an exaggerated startle reaction to sudden, unexpected auditory or tactile stimuli; affected neonates also have severe and occasionally fatal hypertonia. We recently encountered a large, five-generation family with startle disease, and treated 16 patients (including 1 neonate) with clonazepam; all experienced dramatic and sustained improvement. We performed systematic linkage analysis in this family, and found tight linkage between the disease locus and a polymorphic genetic marker locus (colony-stimulating factor receptor, or CSF1R) that has been physically mapped to chromosome 5q33-q35. The maximum odds ratio favoring linkage over nonlinkage is greater than 10,000,000: 1 (lod score, 7.10) at 3% recombination. Several genes encoding neurotransmitter receptor components have been physically mapped to the subtelomeric region of chromosome 5q, and are thus candidates for the startle disease gene. The availability of additional large pedigrees with startle disease should facilitate identification and characterization of the gene for this disorder. |
| Document Type: Article |
| Language: English |
Addresses:
1. UNIV TEXAS, HLTH SCI CTR, DEPT PEDIAT NEUROL, SAN ANTONIO, TX 78284 USA
2. EMORY UNIV, DIV MED GENET, ATLANTA, GA 30322 USA
3. UNIV CALIF LOS ANGELES, CTR HLTH SCI, DEPT MED, LOS ANGELES, CA 90024 USA |
| Publisher: LITTLE BROWN CO, 34 BEACON STREET, BOSTON, MA 02108-1493 |
| Subject Category: Clinical Neurology; Neurosciences |
| IDS Number: HY141 |
| ISSN: 0364-5134 |
|
| | | | | | | | | Record from Web of Science® | | | | | | | | | |