A neglected neurodegenerative disease: Adult-onset globoid cell leukodystrophy

Abstract

Globoid cell leukodystrophy (GLD), or Krabbe disease (KD) is a rare neurodegenerative disease, and adult-onset GLD is more even neglected by clinicians. This review provides detailed discussions of the serum enzymes, genes, clinical manifestations, neuroimaging features, and therapies of GLD, with particular emphasis on the characteristics of adult-onset GLD, in an attempt to provide clinicians with in-depth insights into this disease.

Globoid Cell Leukodystrophy (Krabbe Disease): An Update

“…Although children are affected by the disease, adult-onset GLD is also prevalent but is usually neglected by clinicians. 9 GALC physiology, GLD pathophysiology, and therapeutic strategies for KD were recently reviewed. 10 Demyelination was observed in infantile KD patients suffering from GALC deficiency.…”