Abstract
Discovery of mutations in the SPAST gene as a cause of autosomal dominant hereditary spastic paraplegia (AD HSP) linked to chromosome 2p (SPG4) by Hazan et al. represented a major breakthrough in the field of HSP genetics.1 HSP genes that were known prior to identification of the SPAST gene in 1999 (proteolipid protein, neuronal cell adhesion molecule L1, and paraplegin) caused only a small portion of X-linked or autosomal recessive types of HSP, while SPG4 accounted for approximately 40% of all AD HSP families.2,3 Spastin, encoded by the SPAST gene, was a novel protein of an unknown function and its cloning symbolized the finding of a “corner piece” of the puzzle whose assembly has remarkably progressed within the last few years. Recent data are consistent with microtubule severing function of spastin regulating microtubule stability.4 In vitro data also suggest a constitutive binding of mutant spastin to microtubules. This may interfere with cut and run dynamics …
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