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Adult onset Krabbe's leukodystrophy: a report of 2 cases.

作者信息

Turazzini M, Beltramello A, Bassi R, Del Colle R, Silvestri M

机构信息

Division of Neurology, Legnago, Italy.

出版信息

Acta Neurol Scand. 1997 Dec;96(6):413-5. doi: 10.1111/j.1600-0404.1997.tb00308.x.

DOI:10.1111/j.1600-0404.1997.tb00308.x
PMID:9449482
Abstract

Krabbe's disease with adult onset is rare; neurological symptoms begin in childhood or at a juvenile age. Two brothers with adult onset of the disease are here reported; 1 sibling developed parapareto-ataxic gait while the other was asymptomatic. Magnetic resonance imaging showed areas of demyelination in the white matter of the brain, while nerve conduction was completely normal. In both patients deficiency of galactosylceramide beta-galactosidase was comparable to the infantile form.

摘要

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