Parkinsonian Symptomatology in a Patient with Type I (Adult) Gaucher’s Disease View Full Text


Ontology type: schema:Chapter     


Chapter Info

DATE

1988

AUTHORS

J. C. Turpin , G. Dubois , A. Brice , M. Masson , M. C. Nadaud , J. M. Boutry , A. W. Schram , J. M. Tager , N. Baumann

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). More... »

PAGES

103-105

Book

TITLE

Lipid Storage Disorders

ISBN

978-1-4612-8300-3
978-1-4613-1029-7

Author Affiliations

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/978-1-4613-1029-7_12

DOI

http://dx.doi.org/10.1007/978-1-4613-1029-7_12

DIMENSIONS

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