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J Inherit Metab Dis. 2010 Aug;33(4):331-8. doi: 10.1007/s10545-010-9095-5. Epub 2010 Jun 2.

The neurological manifestations of Gaucher disease type 1: the French Observatoire on Gaucher disease (FROG).

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Médecine Interne, Hôpital de la Pitié-Salpêtrière, Paris, France.



Gaucher disease (GD), the most prevalent inherited lysosomal storage disorder, is caused by deficient glucocerebrosidase activity. Type 1 GD (GD1), the most common variant, is classically considered non-neuronopathic.


We performed a national cross-sectional observational survey-the French Observatoire on Gaucher Disease (FROG)-in patients with GD1 between March 2005 and September 2006. The study included all patients over 18 years of age with confirmed GD1 who attended participating centers for regular follow-up.


One hundred and five patients were included, in whom we studied the prevalence and characteristics of relevant neurological symptoms associated with the neuraxis. Of these, 51 (49%) GD1 patients presented at least one neurological symptom. Four patients (4%) had Parkinson disease and 22 (21%) presented with at least one parkinsonian sign or at least one sign frequently associated with Parkinson disease. Five patients (5%) had a previous diagnosis of peripheral neuropathy. Other central nervous system symptoms were recorded in 20 (19%) patients and other peripheral nervous system symptoms in 39 (37%) patients.


These data challenge the current classification of GD, and suggest that the three forms of GD each involve a different profile of neurological manifestations.

[Indexed for MEDLINE]

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