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标题:Startle disease, or hyperekplexia: response to clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysis.
时间:2019-11-19 22:22:12
DOI:10.1002/ana.410310615
PMID:1355335
作者:Stephen G. Ryan;Stephanie L. Sherman;Joseph C. Terry
关键词:Humans;Chromosomes, Human, Pair 5;Muscle Rigidity;Muscle Hypertonia;Stiff-Person Syndrome;Receptors, Neurotransmitter;Startle Reaction;Odds Ratio;Genetic Markers;Pedigree
出版源: Annals of Neurology ,1992 ,31 (6) :663-668
摘要: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 CSFIR) 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 shold facilitate identification and characterization of the gene for this disorder.
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