查看文章

Almost to the century after the initial clinical description of childhood spinal muscular atrophy (SMA)(Werdnig, 1891) a new era of investigation into the nature of SMA was inaugurated when Conrad Gilliam and his group at Columbia University established genetic linkage for this autosomal recessive disorder to chromosome 5q (Brzustowicz et al., 1990). In 6 years the pace of research has accelerated markedly: an extensive international effort to identify the gene is documented in over 50 papers by 240 authors at a dozen centers. One early by-product of this search was the discovery that the SMA-critical region of chromosome 5q is unusually unstable and that this genetic instability is likely responsible for the high incidence and worldwide distribution of SMA (Carpten et al., 1994; Theodosiou et al., 1994; Thompson et al., 1995; Crawford, 1996). By early 1995, the search had narrowed sufficiently for two neighboring …