GM2 Gangliosidoses


Motor Neuron Disease Lysosomal Storage Disease Neuronal Ceroid Lipofuscinosis Metachromatic Leukodystrophy Sandhoff Disease 


  1. Akerman BR, Natowicz MR, Kaback MM, Loyer M, Campeau E, and Gravel RA (1997) Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease. Am J Hum Genet 60: 1099PubMedGoogle Scholar
  2. Gravel R, Kaback M, Proia R, Sandhoff K, Suzuki K, and Suzuki K (2001) The GM2 gangliosidoses. In: The meatbolic and molecular bases of inherited disease (Scriver C, Beaudet A, Valle D, and Sly WS, eds). New York: McGraw-Hill, p 3827Google Scholar
  3. Myerowitz R, and Costigan FC (1988) The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase. J Biol Chem 263: 18587PubMedGoogle Scholar
  4. Purpura DP, and Suzuki K (1976) Distortion of neuronal geometry and formation of aberrant synapses in neuronal storage disease. Brain Res 116: 1CrossRefPubMedGoogle Scholar
  5. Sandhoff K, Andreae U, and Jatzkewitz H (1968) Deficient hexosaminidase activity in an exceptional case of Tay-Sachs disease with additional storage of kidney globoside in visceral organs. Pathol Eur 3: 278PubMedGoogle Scholar
  6. Schroder M, Schnabel D, Hurwitz R, Young E, Suzuki K, and Sandhoff K (1993) Molecular genetics of GM2-gangliosidosis AB variant: a novel mutation and expression in BHK cells. Hum Genet 92: 437CrossRefPubMedGoogle Scholar
  7. Schroder M, Schnabel D, Suzuki K, and Sandhoff K (1991) A mutation in the gene of a glycolipid-binding protein (GM2 activator) that causes GM2-gangliosidosis variant AB. FEBS Lett 290: 1CrossRefPubMedGoogle Scholar
  8. Suzuki K (1991) Neuropathology of late onset gangliosidoses. A review. Dev Neurosci 13: 205PubMedGoogle Scholar

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