Sandhoff disease: pathology

Evidence-based neurology checklist on sandhoff disease: pathology: Genetics This is the 0-variant of GM2-gangliosidosis It is caused by mutations in the HEXB gene on chromosome 5q The gene encodes the lysosomal enzyme β-hexosaminidase The transmission is autosomal recessive The mutation results in…

Genetics

  • This is the 0-variant of GM2-gangliosidosis
  • It is caused by mutations in the HEXB gene on chromosome 5q
  • The gene encodes the lysosomal enzyme β-hexosaminidase
  • The transmission is autosomal recessive
  • The mutation results in tissue accumulation of the ganglioside GM2

Types

Cerebral features

Peripheral features

Differential diagnosis

Investigations

Treatment: Miglustat

References

  1. Kolter T, Sandhoff K. Sphingolipid metabolism diseases. Biochim Biophys Acta 2006; 1758:2057-2079.
  2. Tallaksen CM, Berg JE. Miglustat therapy in juvenile Sandhoff disease. J Inherit Metab Dis 2009; 32(Suppl 1):S289-S293.
  3. Delnooz CC, Lefeber DJ, Langemeijer SM, et al. New cases of adult-onset Sandhoff disease with a cerebellar or lower motor neuron phenotype. JNNP 2010; 81:968-972. 
  4. Saouab R, Mahi M, Abilkacem R, et al. A case report of Sandhoff disease. Clin Neuroradiol 2011; 21:83-85.
  5. Grunseich C, Schindler AB, Chen KL, et al. Peripheral neuropathy in a family with Sandhoff disease and SH3TC2 deficiency. J Neurol 2015; 262:1066-1068. 
  6. And 4 more. Subscribe to see the full list

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