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The neurological manifestations of Gaucher disease type 1: the French Observatoire on Gaucher disease (FROG)
Author(s) -
Chérin P.,
Rose C.,
RouxSerratrice C.,
Tardy D.,
Dobbelaere D.,
Grosbois B.,
Hachulla E.,
Jaussaud R.,
Javier R.M.,
Noël E.,
Clerson P.,
Hartmann A.
Publication year - 2010
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-010-9095-5
Subject(s) - medicine , glucocerebrosidase , disease , pediatrics , enzyme replacement therapy , peripheral neuropathy , fabry disease , lysosomal storage disease , cross sectional study , observational study , pathology , endocrinology , diabetes mellitus
Background 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. Methods 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. Results 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. Conclusions These data challenge the current classification of GD, and suggest that the three forms of GD each involve a different profile of neurological manifestations.