%0 Journal Article
%T Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula
%A Pilar Giraldo
%A Pilar Alfonso
%A Pilar Ir¨²n
%A Laura Gort
%A Amparo Chab¨¢s
%A Llu£¿sa Vilageliu
%A Daniel Grinberg
%A Clara M S¨¢ Miranda
%A Miguel Pocovi
%J Orphanet Journal of Rare Diseases
%D 2012
%I BioMed Central
%R 10.1186/1750-1172-7-17
%X We evaluated the distribution, and clinical and genetic characteristics of GD patients in the Iberian Peninsula (IP). We analysed geographical distribution, demographic, genetic and clinical data, age at diagnosis, type, and years of therapy in 436 GD patients from the IP.The prevalence of GD was 1/149,000 inhabitants; 88.3% were type 1, 6.7% type 2, and 5.0% type 3. The mean age at diagnosis in type 1 was 28.7 years. A total of 72.7% were classified as having mild forms, 25.5% moderate, and 1.7% severe. Anemia and thrombocytopenia were present in 56% and 55%, respectively. Bone disease and hepatomegaly were reported in 62% and 68%, respectively, and were more likely in asplenic than in non-splenectomized patients. Sixty-nine mutant alleles were identified, and five mutations accounted for 75% of the GBA alleles. Several patients described in our series had interesting phenotypes. A total of 58.7% of patients had received enzyme replacement therapy and 12.6% were treated with miglustat.A broad spectrum of GBA mutations is present in the IP, with 98.2% of type 1 GD being mild and 23.0% never treated. These data highlight genetic and phenotypic heterogeneities among geographic populations.Gaucher disease (GD), one of the most prevalent lysosomal storage diseases worldwide, is inherited in an autosomal recessive mode and is usually caused by deficient activity of the glucocerebrosidase enzyme (EC 3.2.1.45) [1]. The predominant clinical manifestations of the disease are cytopenias, hepatosplenomegaly and bone disease. Patients with GD are divided into three types, based on the presence and rate of progression of neurologic manifestations: type 1 non-neuronopathic (MIM 230800), type 2 acute neuronopathic (MIM 230900), and type 3 subacute neuronopathic (MIM 231000). The type 1 form is the most common among Caucasian patients but has a strong presence in the Ashkenazi Jewish population. In contrast, there is a high frequency of type 3 in Norrbotten, Northern Sweden, in Nor
%K Gaucher disease
%K Glucocerebrosidase
%K Phenotype
%K Genotyping
%K Iberian Peninsula
%U http://www.ojrd.com/content/7/1/17