Gaucher’s disease (GD), the most prevalent inherited lysosomal storage disorder, is caused by a impaired glucocerebrosidase function. The resulting accumulation of glucocerebrosides in the lysosomes of macrophages leads to hepatosplenomegaly, anaemia, thrombocytopenia and various bone abnormalities.
GD is currently subdivided into 3 types based on it effects in the central nervous system. Type I, the most common variant, is classically regarded as non-neuropathic. However, the incidence of Parkinsonism is higher in this type of GD than in the general population. Furthermore, heterozygosity for certain glucocerebrosidase gene mutations confers a higher risk of developing Parkinson’s disease.
This paper reports 9 patients with GD (8 with the type I variant) and reviews associations with neurological disorders. Three patients, possibly four had Parkinsonism.
These new data suggest a revision of the classification of GD with recognition of a continuum between neurological and non-neurological forms of the disease.
© 2006 Elsevier Masson SAS. Tous droits réservés.