Neurofibromatosis type 1 & related disorders

The last decades have seen major developments in our knowledge of the different forms of neurofibromatosis (Ferner 2007a, b; Ferner et al. 2007; Friedman et al. 1999; Huson and Hughes 1994; Korf and Rubenstein 2005; North 1997; Ruggieri 2007; Upadhyaya and Cooper 1998a). Evidence based clinical diagnostic criteria and management guidelines have been developed (Baser et al. 2002; Ferner et al. 2007; Gutman et al. 1997; Listernick et al. 1997; Listernick and Charrow 2004a, b; North et al. 1997; Maria 2002; Ruggieri 1999; Wolkenstein et al. 1996). The genes for the two major forms, neurofibromatosis type 1 (NF1) and type 2 (NF2), have been cloned and the gene products, neurofibromin and merlin (also called Schwannomin), respectively, fully characterised (reviewed in Baser et al. 2003, Ferner 2007a, Friedman et al. 1999, Korf and Rubenstein 2005, Upadhyaya and Cooper 1998b).