Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Search research articles

Related Experiment Videos

Globoid cell leukodystrophy (Krabbe's disease): update.

Kunihiko Suzuki¹

¹Neuroscience Center, Department of Neurology, University of North Carolina School of Medicine, Chapel Hill, NC, USA. kuni.suzuki@attglobal.net

Journal of Child Neurology

|October 24, 2003

Summary

Krabbe disease, a genetic leukodystrophy, results from galactosylceramidase deficiency. Saposin A deficiency may cause a similar late-onset form, treatable with bone marrow transplantation.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

Regulatory insights on gene therapies, adeno-associated virus-based gene therapies, cell/tissue-based products, and medical care/practice in cell and gene therapies: Report from the 7th Asia partnership conference - April 25, 2024.

Regenerative therapy·2025

Same author

Regulatory insights on advanced CAR-T cell products, AAV-based Gene therapies, and medical care/practice in cell and Gene therapies: Report from the 6th Asia partnership conference of regenerative medicine- April 20, 2023.

Regenerative therapy·2024

Same author

Decoding triancestral origins, archaic introgression, and natural selection in the Japanese population by whole-genome sequencing.

Science advances·2024

Same author

Natural Selection Signatures in the Hondo and Ryukyu Japanese Subpopulations.

Molecular biology and evolution·2023

Same author

On the occasion of the 100th volume of the Proceedings of the Japan Academy, Series B (PJA-B).

Proceedings of the Japan Academy. Series B, Physical and biological sciences·2023

Same author

<i>Helicobacter pylori</i>, Homologous-Recombination Genes, and Gastric Cancer.

The New England journal of medicine·2023

Area of Science:

Neuroscience
Genetics
Biochemistry

Background:

Krabbe disease is a fatal autosomal recessive leukodystrophy caused by galactosylceramidase deficiency.
Pathology involves myelin loss, oligodendrocyte dysfunction, and unique globoid cell infiltration.
Galactosylsphingosine accumulation is implicated in disease pathogenesis.

Purpose of the Study:

To review the genetic basis and pathology of globoid cell leukodystrophy.
To highlight the potential role of saposin A deficiency in late-onset forms.
To discuss treatment options for Krabbe disease.

Main Methods:

Literature review of genetic leukodystrophies.
Analysis of pathogenic mechanisms in globoid cell leukodystrophy.
Discussion of diagnostic and therapeutic strategies.

Main Results:

Genetic defects in galactosylceramidase cause classic Krabbe disease.
Saposin A deficiency can lead to a slowly progressive, late-onset form of globoid cell leukodystrophy.
Bone marrow transplantation shows promise for symptom alleviation, especially in later-onset cases.

Conclusions:

Suspect saposin A deficiency in late-onset leukodystrophy with normal galactosylceramidase activity.
Bone marrow transplantation is a viable treatment for certain forms of globoid cell leukodystrophy.
Further research into genetic leukodystrophies is crucial for improved diagnostics and therapeutics.

Related Experiment Videos