Article
Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England.
Neurology - 27 Feb 2001
McDermott C J, Dayaratne R K, Tomkins J, Lusher M E, Lindsey J C, Johnson M A, Casari G, Turnbull D M, Bushby K, Shaw P J
Abstract excerpt
OBJECTIVE: To identify the frequency and characterize the phenotype of paraplegin mutations in the hereditary spastic paraparesis (HSP) population in the northeast of England. BACKGROUND: HSP is a disorder that shows both clinical and genetic heterogeneity. To date, 13 loci have been associated with an HSP phenotype, with the causative gene having been identified in four of these. Two autosomal genes have been...
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