Switch to
| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
6
|
| pubmed:dateCreated |
1992-9-25
|
| pubmed:abstractText |
Familial startle disease (also known as hyperekplexia and congenital "stiff-man" syndrome) is an autosomal dominant disorder characterized by an exaggerated startle reaction of 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.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Jun
|
| pubmed:issn |
0364-5134
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
31
|
| pubmed:geneSymbol |
CSF1R,
STHE
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
663-8
|
| pubmed:dateRevised |
2006-11-15
|
| pubmed:meshHeading |
pubmed-meshheading:1355335-Adult,
pubmed-meshheading:1355335-Child, Preschool,
pubmed-meshheading:1355335-Chromosomes, Human, Pair 5,
pubmed-meshheading:1355335-Clonazepam,
pubmed-meshheading:1355335-Female,
pubmed-meshheading:1355335-Genes, Dominant,
pubmed-meshheading:1355335-Genetic Markers,
pubmed-meshheading:1355335-Humans,
pubmed-meshheading:1355335-Infant,
pubmed-meshheading:1355335-Lod Score,
pubmed-meshheading:1355335-Male,
pubmed-meshheading:1355335-Muscle Hypertonia,
pubmed-meshheading:1355335-Muscle Rigidity,
pubmed-meshheading:1355335-Odds Ratio,
pubmed-meshheading:1355335-Pedigree,
pubmed-meshheading:1355335-Polymorphism, Restriction Fragment Length,
pubmed-meshheading:1355335-Receptors, Neurotransmitter,
pubmed-meshheading:1355335-Startle Reaction,
pubmed-meshheading:1355335-Stiff-Person Syndrome
|
| pubmed:year |
1992
|
| pubmed:articleTitle |
Startle disease, or hyperekplexia: response to clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysis.
|
| pubmed:affiliation |
Department of Pediatrics (Neurology), University of Texas Health Science Center, San Antonio 78284-7814.
|
| pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Case Reports,
Research Support, Non-U.S. Gov't
|