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Adult-onset Krabbe disease with homozygous T1853C mutation in the galactocerebrosidase gene

1 Nov 1997

Abstract excerpt

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...

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PMID: 9371928
DOI: 10.1212/wnl.49.5.1392

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