Related Experiment Video
Updated: Apr 17, 2026
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
White matter changes in GM1 gangliosidosis
Moni Tuteja1, Abdul Mueed Bidchol, Katta Mohan Girisha
1Departments of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh; and *Kasturba Medical College, Manipal University, Manipal, India. Correspondence to: Dr Shubha R Phadke, Professor and Head, Department of Medical Genetics, SGPGIMS, Lucknow 226 014. shubharaophadke@gmail.com.
GM1 gangliosidosis, a genetic disorder caused by GLB1 gene mutations, can lead to neuroregression. This case highlights significant white matter changes in a child with this rare lysosomal storage disease.
Area of Science:
- Genetics
- Neurology
- Biochemistry
Background:
- GM1 gangliosidosis is a rare lysosomal storage disease.
- It results from mutations in the GLB1 gene, affecting beta-galactosidase enzyme activity.
- This enzyme is crucial for breaking down gangliosides in the brain.
Observation:
- A 4-year-old boy presented with progressive neuroregression.
- Clinical signs included optic atrophy.
- Magnetic resonance imaging revealed periventricular white matter hyperintensities.
Findings:
- Enzyme assays confirmed significantly low beta-galactosidase activity.
- Genetic sequencing identified a mutation in the GLB1 gene.
- These findings confirmed the diagnosis of GM1 gangliosidosis.
Implications:
- This case underscores the white matter abnormalities that can occur in late infantile GM1 gangliosidosis.
- Understanding these changes is vital for early diagnosis and management.
- Further research into the neurological manifestations of GM1 gangliosidosis is warranted.
