SPECTRUM OF X-LINKED HYDROCEPHALUS (HSAS), MASA SYNDROME, AND COMPLICATED SPASTIC PARAPLEGIA (SPG1) - CLINICAL REVIEW WITH 6 ADDITIONAL FAMILIES

X-linked hydrocephalus (HSAS) (MIM 307000), MASA syndrome (MIM *30335 0), and complicated spastic paraplegia (SPG1) (MIM 312900) are closel y related. Soon after delineation, SPG1 was incorporated into the spec trum of MASA syndrome, HSAS and MASA syndrome show great clinical over lap; DNA linkage analysis places the loci at Xq28, In an increasing nu mber of families with MASA syndrome or HSAS, mutations in L1CAM, a gen e located at Xq28, have been reported, In order to further delineate t he clinical spectrum, we studied 6 families with male patients present ing with MASA syndrome, HSAS, or a mixed phenotype, We summarized data from previous reports and compared them with our data. Clinical varia bility appears to be great, even within families, Problems in genetic counseling and prenatal diagnosis, the possible overlap with X-linked corpus callosum agenesis and FG syndrome, and the different forms of X -linked complicated spastic paraplegia are discussed, Since adducted t humbs and spastic paraplegia are found in 90% of the patients, the con dition may be present in males with nonspecific mental retardation, We propose to abandon the designation MASA syndrome and use the term HSA S/MASA spectrum, incorporating SPG1. (C) 1995 Wiley-Liss, Inc.