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Adult-Onset Krabbe Disease with Mutation in the Galactocerebrosidase Gene, MRI of Corticospinal Tract Demyelin
Neurol 49:1392-1399, Satoh,J.-I.,et al, 1997
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Article Abstract
A 51 year old woman developed a slowly progressive spastic paraparesis and diminished vibration sense beginning at age 38.Intellectual capacity was normal.Krabbe disease was confirmed by markedly reduced leukocyte galactocerebrosidase(GALC)activity,typical inclusions in Schwann cell cytoplasm,and an identification of the homozygous point mutation T1835C (leu618Ser)in the GALC gene.T2-weighted MRI of the brain showed symmetric high signal intensity lesions in the bilateral frontoparietal white matter,the centrum semiovale,and the posterior limb of the internal capsule with sparing of the periventricular white matter.This case is unusual because of the late onset,protracted clinical course and MRI findings of demyelination confined to the corticospinal tracts.
 
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cultured skin fibroblasts
demyelinating disease
enzyme,defect
galactocerebrosidase
gene mutation
Krabbe's disease
leukocyte enzyme abnormality
leukodystrophy
MRI
MRI,abnormal
paraparesis,spastic
pyramidal tract
white matter disease

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