White matter changes in GM1 gangliosidosis
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Updated: Oct 9, 2026

Diffusion Tensor Magnetic Resonance Imaging in the Analysis of Neurodegenerative Diseases
Published on: July 28, 2013
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.
Background:
GM1 gangliosidosis is a disorder due to GLB1 gene mutation.
Case Characteristics:
A 4-yr-old boy with neuroregression and optic atrophy with periventricular hyperintensity on magnetic resonance imaging.
Outcome:
Beta galactosidase enzyme activity was low which was confirmed by GLB1 sequencing.
Message:
We highlight the white matter changes in late infantile GM1 gangliosidosis.

