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Adult-onset Krabbe's disease in siblings with novel mutations in the galactocerebrosidase gene

✍ Scribed by Gary L. Bernardini; Daniel G. Herrera; Debbie Carson Rn; Rita DeGasoperi; Miguel A. Gama Sosa; Edwin H. Kolodny; Dr Rosario Trifiletti

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 465 KB
Volume: 41
Category: Article
ISSN: 0364-5134
DOI: 10.1002/ana.410410119

No coin nor oath required. For personal study only.

✦ Synopsis

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 activiry of athe enzyme β‐galactocerebrosidase. We report the presentation of late‐onset Krabbe's disease in 2 siblings, a 17‐year‐old boy and his 16‐year‐old sistem both with marked deficiency of the enzyme β‐galactocere‐brosidase. 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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