Article
Determination of arylsulfatase A pseudodeficiency allele and haplotype frequency in the Tunisian population.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Mar 2016
Ben Halim Nizar, Dorboz Imen, Kefi Rym, Kharrat Najla, Eymard-Pierre Eleonore, Nagara Majdi, Romdhane Lilia, Ben Alaya-Bouafif Nissaf, Rebai Ahmed, Miladi Najoua, Boespflug-Tanguy Odile, Abdelhak Sonia
Abstract excerpt
Arylsulfatase A (ASA) is a lysosomal enzyme involved in the catabolism of cerebroside sulfate. ASA deficiency is associated with metachromatic leukodystrophy (MLD). Low ASA activities have also been reported in a more common condition with no apparent clinical consequences termed ASA pseudo-deficiency (ASA-PD) which is associated with two linked mutations in the ASA gene (c.1049A>G and c.*96A>G). This study aimed...
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