» Articles » PMID: 36161165

A Neglected Neurodegenerative Disease: Adult-onset Globoid Cell Leukodystrophy

Overview
Journal Front Neurosci
Date 2022 Sep 26
PMID 36161165
Authors
Affiliations
Soon will be listed here.
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.

Citing Articles

Late-Onset Krabbe Disease: Case Report of Two Patients in a Chinese Family and Literature Review.

Sun Y, Zheng J, He L, Li X, Liu W, Wu J Mol Genet Genomic Med. 2025; 13(2):e70065.

PMID: 39878400 PMC: 11775926. DOI: 10.1002/mgg3.70065.


Globoid Cell Leukodystrophy (Krabbe Disease): An Update.

Maghazachi A Immunotargets Ther. 2023; 12:105-111.

PMID: 37928748 PMC: 10625317. DOI: 10.2147/ITT.S424622.

References
1.
Schulte S, STOFFEL W . Ceramide UDPgalactosyltransferase from myelinating rat brain: purification, cloning, and expression. Proc Natl Acad Sci U S A. 1993; 90(21):10265-9. PMC: 47755. DOI: 10.1073/pnas.90.21.10265. View

2.
Qin E, Hawkins-Salsbury J, Jiang X, Reddy A, Farber N, Ory D . Bone marrow transplantation increases efficacy of central nervous system-directed enzyme replacement therapy in the murine model of globoid cell leukodystrophy. Mol Genet Metab. 2012; 107(1-2):186-96. PMC: 3444533. DOI: 10.1016/j.ymgme.2012.05.021. View

3.
Desnick R, Schuchman E . Enzyme replacement therapy for lysosomal diseases: lessons from 20 years of experience and remaining challenges. Annu Rev Genomics Hum Genet. 2012; 13:307-35. DOI: 10.1146/annurev-genom-090711-163739. View

4.
Caniglia M, Rana I, Pinto R, Fariello G, Caruso R, Angioni A . Allogeneic bone marrow transplantation for infantile globoid-cell leukodystrophy (Krabbe's disease). Pediatr Transplant. 2002; 6(5):427-31. DOI: 10.1034/j.1399-3046.2002.02026.x. View

5.
Beslow L, Schwartz E, Bonnemann C . Thickening and enhancement of multiple cranial nerves in conjunction with cystic white matter lesions in early infantile Krabbe disease. Pediatr Radiol. 2008; 38(6):694-6. DOI: 10.1007/s00247-008-0763-7. View