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Related Experiment Video

Updated: Jun 30, 2026

Preparation of CD4+ T Cells for Analysis of GD3 and GD2 Ganglioside Membrane Expression by Microscopy
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Preparation of CD4+ T Cells for Analysis of GD3 and GD2 Ganglioside Membrane Expression by Microscopy

Published on: November 8, 2016

Chapter 9 GM(2) gangliosidoses.

Amos D Korczyn

    Handbook of Clinical Neurology
    |September 24, 2008
    PubMed
    Summary

    Late infantile onset GM2 gangliosidosis (LOGM(2)G) involves defective beta-hexosaminidase A, causing progressive neurodegeneration. Stem cell therapy offers potential for LOGM(2)G by correcting the metabolic defect, unlike in ALS.

    Area of Science:

    • Biochemistry
    • Neuroscience
    • Genetics

    Background:

    • Late infantile GM2 gangliosidosis (LOGM(2)G) stems from deficient lysosomal enzyme beta-hexosaminidase A.
    • Substrate accumulation leads to progressive central nervous system pathology with variable phenotypes.
    • The precise mechanisms of neurodegeneration in LOGM(2)G remain incompletely understood.

    Purpose of the Study:

    • To explore the potential of stem cell-based therapies for LOGM(2)G.
    • To evaluate the feasibility of targeting anterior horn cells for therapeutic intervention.
    • To compare the potential benefits of stem cell therapy in LOGM(2)G versus other motor neuron diseases like ALS.

    Main Methods:

    • Review of existing literature on LOGM(2)G pathophysiology and proposed therapeutic strategies.

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    Sublimation of DAN Matrix for the Detection and Visualization of Gangliosides in Rat Brain Tissue for MALDI Imaging Mass Spectrometry

    Published on: March 23, 2017

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    Last Updated: Jun 30, 2026

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    Published on: November 8, 2016

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  • Analysis of genotype-phenotype correlations, particularly the L444P genotype.
  • Theoretical evaluation of stem cell engineering with a functional HEXA gene for metabolic correction.

    • Main Results:

    • LOGM(2)G presents a wide spectrum of clinical phenotypes, with imperfect genotype-phenotype correlations.
    • Neuronal loss, neurodegeneration, and gray/white matter involvement characterize CNS damage.
    • Stem cell therapy engineered to carry a normal HEXA gene is a promising approach for LOGM(2)G.

    Conclusions:

    • Stem cell therapy offers a potential avenue for LOGM(2)G treatment by correcting the underlying metabolic abnormality.
    • This approach may be more effective for LOGM(2)G than for ALS, where ongoing degeneration could affect transplanted cells.
    • Targeting anterior horn cells with genetically corrected stem cells could replace damaged neurons and halt disease progression.