De novo SPAST mutations may cause a complex SPG4 phenotype

Abstract excerpt

Sir, Spastic paraplegia type 4 (SPG4) is caused by mutations in the SPAST gene, and is the most common form of autosomal dominantly inherited pure hereditary spastic paraplegia (HSP) worldwide (Hazan et al., 1999; Salinas et al., 2008; Finsterer et al., 2012; Dong et al., 2018; Koh et al., 2018; Parodi et al., 2018). Age of onset and severity of SPG4 are known to be highly variable. In a recent issue of Brain,...

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