ADULT-ONSET KRABBES DISEASE IN SIBLINGS WITH NOVEL MUTATIONS IN THE GALACTOCEREBROSIDASE GENE

Krabbe's disease or globoid cell leukodystrophy is a rare demyelinatin g disorder of the central and peripheral nervous systems, the diagnosi s of which is based on clinical findings and the determination of low to absent functional activity of the enzyme beta-galactocerebrosidase. We report the presentation of: late-onset Krabbe's disease in 2 sibli ngs, a 17-year-old boy and his 16-year-old sister, both with marked de ficiency of the enzyme beta-galactocerebrosidase. Only the older sibli ng manifested clinical signs and symptoms of the disease, while the yo unger sister remained asymptomatic to date. Molecular analyses disclos ed the presence in this family of two novel single point mutations wit hin the gene for galactocerebrosidase.