The neurological manifestations of Gaucher disease type 1: the French Observatoire on Gaucher disease (FROG).
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.
Chérin
P
P
Médecine Interne, Hôpital de la Pitié-Salpêtrière, Paris, France.
Rose
C
C
de Roux-Serratrice
C
C
Tardy
D
D
Dobbelaere
D
D
Grosbois
B
B
Hachulla
E
E
Jaussaud
R
R
Javier
R-M
RM
Noël
E
E
Clerson
P
P
Hartmann
A
A
D000328:Adult; D003430:Cross-Sectional Studies; D003866:Depressive Disorder / Q000453:epidemiology / Q000235:genetics; D005260:Female; D005602:France / Q000453:epidemiology; D005776:Gaucher Disease / Q000453:epidemiology* / Q000235:genetics; D005838:Genotype; D006306:Health Surveys; D006801:Humans; D008297:Male; D008875:Middle Aged; D020734:Parkinsonian Disorders / Q000453:epidemiology* / Q000235:genetics; D010523:Peripheral Nervous System Diseases / Q000453:epidemiology* / Q000235:genetics; D015995:Prevalence