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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
A French experience of type 3 Gaucher disease: Phenotypic diversity and neurological outcome of 10 patients
Brain and Development, Volume 33, No. 2, Year 2011
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Description
Objective: To describe the clinical presentation of 10 patients with type 3 Gaucher disease and the clinical evolution of nine of them following specific therapy regimes. Methods: The follow-up of these 10 patients was between 2 and 15 years. The clinical history was provided by each patient's general practitioner and a final clinical evaluation was made by two different physicians including a neurologist. One patient received no treatment, eight received enzyme replacement therapy (ERT) and one received ERT combined with substrate reduction therapy (SRT, miglustat). Results: The clinical presentations were heterogeneous and most phenotypes reported for type 3 Gaucher disease were represented. The neurological involvement stabilized or improved in six patients under ERT with a follow-up of 2-15 years. Four of them showed isolated oculomotor signs only that improved or remained unchanged during the follow-up. Of two patients with progressive myoclonic epilepsy, the outcome was clearly unfavorable in one receiving ERT and disputable for the other receiving ERT. +. SRT. An unfavorable neurological outcome was observed in another patient in whom the ERT dose had been reduced before clinical decline. Conclusion: The stabilization of the clinical course in most patients is noteworthy. Though further evidence is needed from a larger series in order to draw any definite conclusions, our data suggest that ERT may be effective in preventing the evolution of neurological disturbances associated with type 3 Gaucher disease in some patients. However, the clinical course of the two patients with progressive myoclonic epilepsy was not influenced by ERT, as previously reported. In accordance with that reported in the literature, data from our series suggest that the outcome of patients undergoing ERT depends on the type of clinical involvement, treatment onset and dose. Genotype may also be an important factor, with p.L444P/p.L444P possibly indicating a better outcome. © 2010 Elsevier B.V.
Authors & Co-Authors
Kraoua, Ichraf
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Sedel, Frédéric
France, Paris
Hôpital Universitaire Pitié Salpêtrière
France, Paris
Inserm
Caillaud, Catherine
France, Paris
Institut Cochin
Froissart, Roseline
France, Lyon
Chu de Lyon
Stirnemann, Jérôme
France, Bondy
Hopital Jean-verdier
Chaurand, Guy
France
Hôpital St. Pierre
Flodrops, Hugues
France
Hôpital St. Pierre
Tari, Saliha
Algeria, Algiers
Centre Hospitalier et Universitaire de Béni-messous, Algiers
Gourfinkel-An, Isabelle
France, Paris
Hôpital Universitaire Pitié Salpêtrière
Mathieu, Sophie
France, Paris
Hôpital Armand-trousseau
Belmatoug, Nadia
France, Clichy
Hôpital Beaujon
Billette-De-Villemeur, Thierry
France, Paris
Institut Cochin
France, Paris
Hôpital Armand-trousseau
France, Paris
Sorbonne Université
Mignot, Cyril
France, Paris
Hôpital Armand-trousseau
Statistics
Citations: 13
Authors: 13
Affiliations: 10
Identifiers
Doi:
10.1016/j.braindev.2010.02.005
ISSN:
03877604
Research Areas
Genetics And Genomics
Health System And Policy
Study Design
Cohort Study