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Adult-Onset Krabbe's Disease in Siblings with Novel Mutations in the Galactocerebrosidase Gene Ann Neurol 41:111-114, Bernardini,G.L.,et al, 1997 See this aricle in Pubmed Article Abstract Krabbe's disease or globoid cell leukodystrophy is a rare demyelinating disorder of the central and peripheral nervous systems,the diagnosis of which is based on clinical findings and the determination of low to absent functional activity of the enzyme B-galactocerebrosidase.We report the presentation of late onset Krabbe's disease in 2 siblings,a 17 year old boy and his 16 year old sister,both with marked deficiency of the enzyme B-galacocerebrosidase.Only the older sibling manifested clinical signs and symptoms of the disease,while the younger sister remained asymptomatic to date.Molecular analyses disclosed the presence in this family of two novel single point mutations within the gene for galactocerebrosidase.

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(click to filter results - removes previous filter) enzyme,defect familial gene mutation Krabbe's disease leukodystrophy MRI MRI,abnormal white matter disease

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