Journal of Inherited Metabolic Disease

, Volume 33, Issue 4, pp 331–338

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

  • P. Chérin
  • C. Rose
  • C. de Roux-Serratrice
  • D. Tardy
  • D. Dobbelaere
  • B. Grosbois
  • E. Hachulla
  • R. Jaussaud
  • R.-M. Javier
  • E. Noël
  • P. Clerson
  • A. Hartmann
LSDS with Neurologic Involvement

DOI: 10.1007/s10545-010-9095-5

Cite this article as:
Chérin, P., Rose, C., de Roux-Serratrice, C. et al. J Inherit Metab Dis (2010) 33: 331. doi:10.1007/s10545-010-9095-5

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.

Copyright information

© SSIEM and Springer 2010

Authors and Affiliations

  • P. Chérin
    • 1
  • C. Rose
    • 2
  • C. de Roux-Serratrice
    • 3
  • D. Tardy
    • 4
  • D. Dobbelaere
    • 5
  • B. Grosbois
    • 6
  • E. Hachulla
    • 7
  • R. Jaussaud
    • 8
  • R.-M. Javier
    • 9
  • E. Noël
    • 10
  • P. Clerson
    • 11
  • A. Hartmann
    • 13
    • 12
  1. 1.Médecine InterneHôpital de la Pitié-SalpêtrièreParisFrance
  2. 2.HématologieHôpital St Vincent de PaulLilleFrance
  3. 3.Médecine InterneHôpital de la TimoneMarseilleFrance
  4. 4.Actelion Pharmaceuticals FranceParisFrance
  5. 5.PédiatrieHôpital Jeanne de FlandreLilleFrance
  6. 6.Médecine InterneEtablissements Nord Sud-Site Hôpital SudRennesFrance
  7. 7.Médecine InterneHôpital Claude HuriezLilleFrance
  8. 8.Service Médecine Interne et Maladies InfectieusesHôpital Robert DebréReimsFrance
  9. 9.RhumatologieHôpital de HautepierreStrasbourgFrance
  10. 10.Médecine InterneHôpital CivilStrasbourgFrance
  11. 11.OrgamétrieRoubaixFrance
  12. 12.Centre d’Investigation Clinique, Fédération des Maladies du Système Nerveux; INSERM UMR 679; AP-HP, Pitié-Salpêtrière GroupUniversité Pierre et Marie Curie Paris 6, Faculté de MédecineParisFrance
  13. 13.Centre d’Investigation Clinique, Fédération des Maladies du Système NerveuxPitié-Salpêtrière Group 47 Boulevard de l´HôpitalParis Cedex 13France