GIRL WITH SIGNS OF PELIZAEUS-MERZBACHER DISEASE HETEROZYGOUS FOR A MUTATION IN EXON-2 OF THE PROTEOLIPID PROTEIN GENE

We studied a female infant with clinical signs of Pelizaeus-Merzbacher disease (PMD), who has a familial mutation (C-41-->T) in exon 2 of th e proteolipid protein gene (PLP), and selected relatives, While the ca rrier mother and grandmother of the proposita currently are neurologic ally normal and show normal T2 magnetic resonance imaging (MRI) of the brain, the infant has a neurological picture, MRIs, and brain auditor y evoked response (BAER) consistent with that diagnosis, The data here presented show that PMD can occur in females carrying a mutation in t he PLP gene, Our experience with the MRIs of this patient, her mother and grandmother, and those of a previously reported family [Pratt et a l.: Am J Med Genet 38:136-139, 1991] show that molecular genetic analy sis and not MRI is the appropriate means for carrier detection. (C) 19 95 Wiley-Liss, Inc.