The Neurological Manifestations of Gaucher Disease Type 1: the French Observatoire on Gaucher Disease (FROG)

Overview

Journal J Inherit Metab Dis

Publisher Wiley

Date 2010 Jun 10

PMID 20532983

Citations 38

Authors

P Cherin

C Rose

C de Roux-Serratrice

D Tardy

D Dobbelaere

B Grosbois

E Hachulla

R Jaussaud

R-M Javier

E Noel

P Clerson

A Hartmann

Affiliations

Soon will be listed here.

Abstract

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.

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