GM1 gangliosidosis: pathology

Evidence-based neurology checklist on gm1 gangliosidosis: pathology: Genetics This is caused by mutations in the GLB1 gene This results in β-galactosidase deficiency The onset is typically in the first decade Types

Genetics

  • This is caused by mutations in the GLB1 gene
  • This results in β-galactosidase deficiency
  • The onset is typically in the first decade

Types

References

  1. Watts RW. A historical perspective of the glycosphingolipids and sphingolipidoses. Philos Trans R Soc Lond B Biol Sci 2003; 358:975-983.
  2. Kolter T, Sandhoff K. Sphingolipid metabolism diseases. Biochim Biophys Acta 2006; 1758:2057-2079.
  3. Muthane U, Chickabasaviah Y, Kaneski C, et al. Clinical features of adult GM1 gangliosidosis: report of three Indian patients and review of 40 cases. Mov Disord 2004; 19:1334-1341.
  4. Sperb F, Vairo F, Burin M, Mayer FQ, Matte U, Giugliani R. Genotypic and phenotypic characterization of Brazilian patients with GM1 gangliosidosis. Gene 2013; 512:113-516.
  5. Uyama E, Terasaki T, Watanabe S, et al. Type 3 GM1 gangliosidosis: characteristic MRI findings correlated with dystonia. Acta Neurol Scand 1992; 86:609-615.
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