The Spanish Gaucher Registry. An Observatoire To Detect Neurological Manifestations in Patients and Relatives.

Background: The Spanish Gaucher Foundation (FEETEG) is an independent and non-profit organization that keeps the Spanish Gaucher Registry (SGR) established in 1993. This SGR contains demographic, genetic, clinical, analytical and image data from a cohort of 306 Gaucher Disease (GD) patients (269 GD1, 22 GD2, 16 GD3), and 751 relatives. The SGR is a useful tool to perform epidemiological-genetic studies and analyse associated comorbilities. Patients and

Methods: From January to July 2006 an epidemiological survey to physicians and to the patients through GD Associations was conducted to ascertain the incidence of neurological symptoms in patients and their relatives as well as analyse genotype-phenotype relationship. The statistical analysis was performed in a SPSS 12.0 database using descriptive parameters, ANOVA, t-test and correlation study including Pearson coefficient.

Results: Twenty-four (38.7%) out of 62 GD1 patient respondents from 56 families have neurological symptoms, 8 (12.5%) tremor, 8 (12.5%) uncoordinated movements, 11 (17.7%) concentration defects, 3 (4.8%) strabismus and 8 (12.5%) deafness, 3 (4.8%) Parkinson Disease (PD). Twenty-one out of 56 families have one or more relatives with neurological manifestations. There were 29(8.6%) out of 336 relatives with neurological symptoms:13 (3.8%) PD, 5 (1.5%) epilepsy, 6 (1.8%) essential tremor, 5 (1.5%) others. Subjects with PD were carriers of mutations:: S364R, G202R, V398I, R47X, L336P, L444P, G195W, recNci and insertion alleles. In families with epilepsy the predominant carrier mutations were: L444P, G195W, R130W and in essential tremor: L444P.

Comments: There is a high incidence of neurological symptoms between GD1 patients and carriers. These manifestations appear frequently in carriers of rare mutations. It is very recommendable to perform a systematic neurological exam in GD1 patients and in carriers with risk mutations.