Krabbe Disease

The Spectrum of Krabbe Disease in Greece: Biochemical and Molecular Findings

“…It has been reported that approximately 90% of the patients have the former and 10% the latter forms of the disease (Wenger 2008); however, a higher incidence for the later-onset forms is suggested in a recent report (Duffner et al 2012). The galactocerebrosidase gene (GALC; MIM # 606890) was cloned by two groups more than 20 years ago (Chen and Wenger 1993;Sakai et al 1994).…”

Lysosomal Storage Diseases

“…Galactocerebroside, however, does accumulate in cerebral macrophages that fuse to form multinucleated, PAS-positive globoid cells. The galactocerebrosidase gene, GALC, has 17 exons encoding 669 amino acids [112]. More than 130 disease-causing mutations have been reported [31].…”

“…More than 130 disease-causing mutations have been reported [31]. The prevalence of the disease is estimated at around 1 in 100,000 births [112].…”

“…Krabbe disease usually presents between 3 and 6 months of age after a normal neonatal period with a rapidly progressive course involving irritability, hypersensitivity to external stimuli, and severe mental and motor deterioration [111,112]. Patients rarely survive beyond 2 years.…”

“…Stem cell transplantation has been performed in individuals with the late-onset form of the disease as late as 16 years after initiation of symptoms, still allowing clinical improvement and halting progression of demyelination on serial neuroimaging [121]. Other modalities under investigation include enzyme replacement therapy, neural stem cell transplantation, chemical chaperone therapy, and substrate reduction [112].…”