July 13 Highlights

Abstract

Hedera et al. (p. 44) describe the phenotype of hereditary spastic paraplegia (HSP) linked to chromosome 8q23-24. Other than increased severity, no clinical features distinguished the family they describe from those with autosomal dominant HSP linked to other chromosomes. The authors question whether the multiple genes responsible for these clinically indistinguishable disorders involve a common biochemical cascade. Mitochondrial disturbance, postulated to be a common factor of HSP, is not a feature of the new gene. Martinez-Murillo et al. (p. 50) characterize a new and apparently common gene locus for recessive familial spastic paraparesis linked to chromosome 15q. In their accompanying editorial, Figlewicz and Bird (p. 5) review the genetics of HSP and highlight the critical issues that must be settled. ♦ Three articles and the editorial by Tournier-Lasserve (p. 3) relate to CACNA1A mutations. Jen et al. (p. 34) describe a nonsense mutation …