PELIZAEUS-MERZBACHER DISEASE X-LINKED SPASTIC PARAPLEGIA PROTEOLIPID PROTEIN NONSENSE MUTATION

We report on a C-to-T transition in exon 6 of the PLP gene in a male w ith Pelizaeus-Merzbacher disease/X-linked spastic paraplegia. The tran sition changes a glutamine at amino acid residue 233 to a termination codon, This premature stop codon probably results in a truncated prote in that is not functional, Six other relatives were analyzed for the m utation and two female carriers were identified, Autopsy data on one m ale are presented. (C) 1997 Wiley-Liss, Inc.