title: Identification of a new Arylsulfatase A (ARSA) gene mutation in Tunisian patients with metachromatic leukodystrophy (MLD).
abstract: Metachromatic leukodystrophy (MLD) is an autosomal recessive, lysosomal storage disease caused by a deficiency of the enzyme arylsulfatase A (ARSA). The aim of the present study was to identify the molecular basis of MLD in Tunisian population. Two Tunisian patients with late infantile MLD were studied. Both patients were homozygous for a new missense mutation that causes a substitution of Trp in Gly p.W124G. This is the first mutation of ARSA gene described in Tunisian population.
authors.affiliation: Child Neurological Diseases Unit, Faculty of Medicine, Tunis, Tunisia. dorboz@yahoo.fr
authors.forename: Imen
authors.initials: I
authors.lastname: Dorboz
authors.forename: Eleonore
authors.initials: E
authors.lastname: Eymard-Pierre
authors.forename: Rym
authors.initials: R
authors.lastname: Kefi
authors.forename: Sonia
authors.initials: S
authors.lastname: Abdelhak
authors.forename: Najoua
authors.initials: N
authors.lastname: Miladi
authors.forename: Odile
authors.initials: O
authors.lastname: Boespflug-Tanguy
mesh_terms: D002490:Central Nervous System / Q000201:enzymology / Q000473:pathology / Q000503:physiopathology; D002553:Cerebroside-Sulfatase / Q000172:deficiency / Q000235:genetics*; D002554:Cerebrosides / Q000378:metabolism; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D007966:Leukodystrophy, Metachromatic / Q000201:enzymology* / Q000208:ethnology / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D014416:Tunisia / Q000208:ethnology
chemical_list: D002554:Cerebrosides; D005819:Genetic Markers; C083015:cerebroside sulfate; D002553:Cerebroside-Sulfatase