Abstract
Gaucher’s disease is normally characterized according to the clinical phenotype. The form which is discovered at adult age is classically called type 1 and is devoid of neurological symptomatology. Nevertheless, several cases have been described with neurological symptoms appearing at adulthood. Among those, cases have been reported with atypical Parkinsonian symptomatology (Bogaert et al., 1939; Davidson, 1942; Neil et al., 1979; Sack, 1980; Soffer et al., 1980; McKeran et al., 1985). The diagnosis was based on the discovery of a splenomegaly and of Gaucher cells in the bone marrow, on the excess of glucocerebrosides in tissues and on the deficiency of glucocerebrosidase. We report here another case of type 1 Gaucher’s disease with extra-pyramidal symptomatology, in which the multiple mulecular forms of β-glucocerebrosidase were investigated according to Ginns et al. (1982).
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© 1988 Plenum Press, New York
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Turpin, J.C. et al. (1988). Parkinsonian Symptomatology in a Patient with Type I (Adult) Gaucher’s Disease. In: Salvayre, R., Douste-Blazy, L., Gatt, S. (eds) Lipid Storage Disorders. NATO ASI Series, vol 150. Springer, Boston, MA. https://doi.org/10.1007/978-1-4613-1029-7_12
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DOI: https://doi.org/10.1007/978-1-4613-1029-7_12
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