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Gaucher disease

Cerebral Lipidoses

by Alexander Kurz

General outline

Gaucher disease is a member of the group of inherited metabolic disorders known as sphigolipidoses.

It is characterised by a deficiency of the lysosomal enzyme glucocerebrosidase which results in the deposition of glucocerebroside in visceral organs, in the reticuloendothelial system, and in the nervous system.

The inheritance is autosomal recessive. Three forms of the disease, with differing age of onset, can be distinguished. In the infantile, neuronopathic form (Type 2) visceral and neurological involvement is prominent and infants with the disease typically die before the age of 2 years.

The adult non-neuronopathic form (Type 1) is particularly common among Ashkenazi Jews and presents with hepatosplenomegaly, pancytopenia, and bone pain with erosions. Type 3 is a subacute, intermediate form with frequent neurological involvement, which includes intellectual deterioration, behavioural disorders, psychosis, involuntary movements, and abnormality of eye movements.

Symtoms and course

Hepatosplenomegaly usually precedes neurologic abnormality. The age at onset is variable. Neurologic symptoms include ataxia, spastic paraplegia, psychomotor seizures, supranuclear ophthalmoplegia and dementia.

Causes and risk factors

Gaucher disease is a typical lysosomal storage disorder resulting from an inborn deficiency of glucocerebrosidase. This leads to the accumulation of gylcolipds in pacrophages, particularly those in the liver, bone marrrow, spleen and lung. In addition, disease of the nervous system can arise as a result of the accumulation of glycosphingolipid metabolites in brain tissue. Approximately 150 mutation of the glucocerebrosidase gene (1q21)s have been identified.

Diagnostic procedures

Laboratory diagnosis of Gaucher disease is performed by measuring glucocerebrosidase activity using a fluorimetric asssay.

Care and treatment

A European consensus on the management of Gaucher disease recommended enzyme replacement therapy with macrophage-targeted recombinant human glucocerebrosidase and found that it ameliorates systemic involvement and enhanced quality of life. There was also evidence that enzyme replacement therapy reversed, stabilised, or slowed the pogression of neurologica symptoms in some patients.

Available services

Neurology and pediatrics departments.


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Last Updated: Friday 09 October 2009


  • Acknowledgements

    This information was gathered in the framework of the European Commission financed project "Rare forms of dementia". Neither the European Commission nor any person acting on its behalf is responsible for any use that might be made of the following information.
  • European Union