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Abstract

GM1 gangliosides accumulate in lysosomes secondary to a deficiency of acid β-galactosidase. The increased GM1 gangliosides in cell membranes cause abnormal neuronal growth and synaptic dysfunction. There is a severe infantile type (with bony and visceral involvement) and milder juvenile and adult types.

Keywords

Neuronal Ceroid Lipofuscinosis Gauche Cell Sandhoff Disease Batten Disease Neuroaxonal Dystrophy 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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8 Lipidosis

  1. 1.
    Callahan JW (1999) Molecular basis of GM1 gangliosidosis and Morquio disease, type B: structure-function studies of lysosomal β-galactosidase and nonlysosomal β-galactosidase-like protein. Biochim Biophys Acta 1455:89–103.Google Scholar
  2. 2.
    Suzuki K, Suzuki K (1996) The gangliosidoses. In: Moser (ed) Neurodystrophies and neurolipidosis (revised series 22). Elsevier, Amsterdam, pp 247–280.Google Scholar
  3. 3.
    Suzuki K, Suzuki K (2002) Lysosomal diseases. In: Graham DI, Lantos PL (eds) Greenfields’ neuropathology, 7th edn, Vol 1. Arnold, London, pp 654–753.Google Scholar
  4. 4.
    Guazzi GC, D’Amore I, Van Hoof F, Fruschelli C Alessandrini, Palmeri S, Federico A (1988) Type 3 (chronic) GM1 gangliosidosis presenting as infant-choreo-athetotic dementia, without epilepsy, in three sisters. Neurology 38:1124–1127.PubMedGoogle Scholar
  5. 5.
    Gravel RA, Clarke JTR, Kaback D (1995) The GM2 gangliosidosis. In: Scriver CR, Beaudet AL, Sly WS, Valle RD (eds) The metabolic and molecular basis of inherited disease, 7th edn. McGraw-Hill, New York, pp 2639–2679.Google Scholar
  6. 6.
    Balicki D, Beutler E (1995) Gaucher disease. Medicine 74:305–323.PubMedCrossRefGoogle Scholar
  7. 7.
    Beutler E, Grabowski GA (1995) Gaucher disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular basis of inherited disease. McGraw-Hill, New York, pp 2641–2670.Google Scholar
  8. 8.
    Schuchman EH, Desnick RJ (1995) Niemann-Pick disease types A and B: acid sphingomyelinase deficiencies. In: Scriver CR, Beaudet AL, Sly WS, Valle RD (eds) The metabolic and molecular basis of inherited disease, 7th edn. McGraw-Hill, New York, pp 2601–2624.Google Scholar
  9. 9.
    Pentchev, P, Vanier MT, Suzuki K, Patterson MC (1995) Niemann-Pick disease type C: a cellular cholesterol lipidosis. In: Scriver CR, Beaudet AL, Sly WS, Valle RD (eds) The metabolic and molecular basis of inherited disease, 7th edn. McGraw-Hill, New York, pp 2625–2639.Google Scholar
  10. 10.
    Kurachi Y, Oka A, Itoh M, Mizuguchi M, Hayashi M, Takashima S (2001) Distribution and development of CLN2 protein, the late-infantile neuronal ceroid lipofuscinosis gene product. Acta Neuropathol (Berl) 102:20–26.PubMedGoogle Scholar
  11. 11.
    Mole SE (2004) The genetic spectrum of human neuronal ceroid-lipofuscinoses. Brain Pathol 14:70–76.PubMedCrossRefGoogle Scholar
  12. 12.
    Zhang Z, Mandal AK, Mital A, Popescu N, Zimonjic D, Moser A, Moser H, Mukherjee AB (2000) Human acid ceramidase gene: novel mutations in Farber disease. Mol Genet Metab 70:30–39.CrossRefGoogle Scholar

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© Springer 2007

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