A French experience of type 3 Gaucher disease: Phenotypic diversity and neurological outcome of 10 patients

Abstract 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...

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Published in:	Brain & development (Tokyo. 1979) Vol. 33; no. 2; pp. 131 - 139
Main Authors:	Kraoua, Ichraf, Sedel, Frédéric, Caillaud, Catherine, Froissart, Roseline, Stirnemann, Jérôme, Chaurand, Guy, Flodrops, Hugues, Tari, Saliha, Gourfinkel-An, Isabelle, Mathieu, Sophie, Belmatoug, Nadia, Billette de Villemeur, Thierry, Mignot, Cyril
Format:	Journal Article
Language:	English
Published:	Netherlands Elsevier B.V 01-02-2011
Subjects:	Adult Age of Onset Child, Preschool Enzyme replacement therapy Enzyme Replacement Therapy - methods Female France Gaucher Disease - diagnosis Gaucher Disease - genetics Gaucher Disease - physiopathology Gaucher Disease - therapy Gaucher disease type 3 Genotype Glucosylceramidase - genetics Humans Infant Infant, Newborn Longitudinal Studies Male Neurologic Examination Neurology Oculomotor apraxia Phenotype Progressive myoclonic epilepsy Substrate reduction therapy Young Adult France type 3 Gaucher disease OMA enzyme replacement therapy ERT GBA progressive myoclonic epilepsy PME oculomotor apraxia glucocerebrosidase Gaucher disease type 1 Gaucher disease GD2 SRT GD1 GD3 substrate reduction therapy Gaucher disease type 3 GD type 2 Gaucher disease Oculomotor apraxia Enzyme replacement therapy Progressive myoclonic epilepsy Substrate reduction therapy
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Summary:	Abstract 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.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 ObjectType-Article-2 ObjectType-Feature-1
ISSN:	0387-7604 1872-7131
DOI:	10.1016/j.braindev.2010.02.005