ADULT-ONSET NEURODEGENERATIVE DISORDER DUE TO PROTEOLIPID PROTEIN GENE MUTATION IN THE MOTHER OF A MAN WITH PELIZAEUS-MERZBACHER DISEASE

A 23-year-old man with Pelizaeus-Merzbacher disease had a novel mutati on, C344A (Thr115Lys), in exon 3 of the proteolipid protein gene (PLP) . His mother, heterozygous for the mutation, developed progressive per sonality change and a gait disorder in her mid-20s. Her MRI at age 53 showed a diffuse severe leukodystrophy. This report extends the phenot ypic range of disease due to PLP gene mutations to include adult-onset dementia in females.