Parkinsonism among Gaucher disease carriers.

Article classé dans la catégorie "Parkinson et Gaucher".

Si les patients atteints de maladie de Gaucher sont suceptibles d'être atteints par la maladie de Parkinson, il a été constaté que certaines personnes hétérozygotes avec la mutation S370 sont retrouvés parmi les patients atteints de Parkinson.

Liens utiles à la fin des catégories

Ghislaine SURREL

maladies-lysosomales-subscribe@yahoogroupes.fr

Medscape Newsletters

Medscape Best Evidence Key journal articles ranked for newsworthiness and clinical relevance in each specialty, linked to Medline abstracts.

J Med Genet.  2004; 41(12):937-40 (ISSN: 1468-6244)

Goker-Alpan O; Schiffmann R; LaMarca ME; Nussbaum RL; McInerney-Leo A; Sidransky E
Section on Molecular Neurogenetics, National Institute of Mental Health, National Institutes of Health, Bethesda, MD 20892-3708, USA.

An association between Gaucher disease and Parkinson disease has been demonstrated by the concurrence of Gaucher disease and parkinsonism in rare patients and the identification of glucocerebrosidase mutations in probands with sporadic Parkinson disease. Using a different and complementary approach, we describe 10 unrelated families of subjects with Gaucher disease where obligate or confirmed carriers of glucocerebrosidase mutations developed parkinsonism. These observations indicate that mutant glucocerebrosidase, even in heterozygotes, may be a risk factor for the development of parkinsonism. Understanding the relationship between altered glucocerebrosidase and the development of parkinsonian manifestations will provide insights into the genetics, pathogenesis, and treatment of Parkinson disease.