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Related Concept Videos

Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...

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Related Experiment Video

Updated: Jun 5, 2026

Preparation of CD4+ T Cells for Analysis of GD3 and GD2 Ganglioside Membrane Expression by Microscopy
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Published on: November 8, 2016

[GM1 gangliosidosis--case report].

Slobodan Obradović1, Olivera Laban, Zoran Igrutinović

  • 1Klinicki centar Kragujevac, Pedijatrijska klinika. sobrsdovic@sbb.co.rs

Medicinski Pregled
|December 29, 2010
PubMed
Summary

This study details an infantile case of GM1 gangliosidosis, a rare lysosomal storage disorder. Early diagnosis and potential gene therapy offer hope for managing this severe genetic condition.

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Last Updated: Jun 5, 2026

Preparation of CD4+ T Cells for Analysis of GD3 and GD2 Ganglioside Membrane Expression by Microscopy
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Published on: November 8, 2016

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Sublimation of DAN Matrix for the Detection and Visualization of Gangliosides in Rat Brain Tissue for MALDI Imaging Mass Spectrometry
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Published on: March 23, 2017

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Gangliosidoses result from inherited beta-galactosidase deficiency, leading to lysosomal glycosphingolipid accumulation.
  • Lysosomal storage disorders exhibit diverse clinical presentations, varying in age of onset and severity.

Observation:

  • A case of early infantile GM1 gangliosidosis is presented.
  • The patient displayed coarse facial features, hypotonia, developmental delay, and hepatosplenomegaly from infancy.
  • Symptoms progressed to profound motor, visual, and auditory impairment, respiratory distress, and death at 13 months.

Findings:

  • Definitive diagnosis was confirmed by absent beta-galactosidase enzyme activity in skin fibroblasts.
  • The patient's presentation lacked seizures and decerebrate rigidity, often seen in advanced stages.

Implications:

  • While no cure exists, advancements in gene therapy for lysosomal storage disorders offer optimism.
  • Early diagnosis is crucial for potential intervention and improved outcomes in rare genetic diseases.