title: Adult Gaucher disease in southern Tunisia: report of three cases.
abstract: BACKGROUND
  Gaucher disease (GD) is the most frequent lysosomal storage disorder; type 1 is by far the most common form. It is characterized by variability in age of onset, clinical signs and progression. It is usually diagnosed in the first or second decade of life with the appearance of bone pains, splenomegaly and thrombocytopenia, but the disease may be diagnosed at any age between 1 and 73 years. In the present study, we report 3 cases with late onset of GD in whom the disease was a surprise finding including one patient with Parkinson disease. This late onset is described as an adult form of Gaucher disease.
  
  
  RESULTS
  Molecular investigation showed mutational homogeneity in Tunisian adult patients suffering from GD. Indeed, all patients carry the p.N370S mutation: two patients at a homozygous state and one patient at compound heterozygous state.
  
  
  CONCLUSIONS
  The p.N370S mutation presents a large variability in the onset of the disease and its clinical manifestation supporting the view that GD should be considered as a continuum phenotype rather than a predefined classification.
authors.affiliation: Molecular Investigation of Genetic Orphan Diseases, Pasteur Institute, Tunis - Tunisia.
authors.forename: Faten
authors.initials: F
authors.lastname: Ben Rhouma
authors.forename: Faten
authors.initials: F
authors.lastname: Kallel
authors.forename: Rym
authors.initials: R
authors.lastname: Kefi
authors.forename: Wafa
authors.initials: W
authors.lastname: Cherif
authors.forename: Majdi
authors.initials: M
authors.lastname: Nagara
authors.forename: Hela
authors.initials: H
authors.lastname: Azaiez
authors.forename: Ines
authors.initials: I
authors.lastname: Jedidi
authors.forename: Moez
authors.initials: M
authors.lastname: Elloumi
authors.forename: Sonia
authors.initials: S
authors.lastname: Abdelhak
authors.forename: Sondes
authors.initials: S
authors.lastname: Mseddi
mesh_terms: D000328:Adult; D001847:Bone Diseases / Q000235:genetics; D001856:Bone Marrow Examination; D004252:DNA Mutational Analysis; D005260:Female; D005776:Gaucher Disease / Q000150:complications / Q000201:enzymology / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D020022:Genetic Predisposition to Disease; D005962:Glucosylceramidase / Q000235:genetics*; D006529:Hepatomegaly / Q000235:genetics; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D013163:Splenomegaly / Q000235:genetics; D013921:Thrombocytopenia / Q000235:genetics; D014416:Tunisia
chemical_list: D005962:Glucosylceramidase