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BACKGROUND Mutations in the spastin gene are the commonest cause of hereditary spastic paraparesis (HSP), accounting for up to 40% of autosomal dominant cases. The phenotype associated with HSP due to mutation in the spastin gene (SPG4) tends to be pure HSP. OBJECTIVE To characterize in more detail the genetic and phenotypic characteristics of SPG4 by(More)
The authors describe an infant with a severe spastic paraparesis caused by two codominant mutations of the spastin gene. This highlights the multiple molecular mechanisms that are likely to be involved in the molecular pathology of SPG4 and illustrates the importance of complete screening of the spastin gene in affected individuals, particularly if the(More)
Executive Summary Marine pests are known to be introduced and translocated in a variety of ways including natural vectors, ballast water from commercial shipping, biofouling, aquaculture operations, aquarium imports, marine debris and ocean current movements. Ballast water management has for some time been focus for marine pests issues associated with(More)
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