An arylsulphatase A (ARSA) frameshift mutation (289insG) in metachromatic leukodystrophy (MLD)
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An arylsulphatase A (ARSA) frameshift mutation (289insG) in metachromatic leukodystrophy (MLD)
Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disorder caused by a deficiency of arylsulphatase A (ARSA) (EC 3.1.6.8). MLD involves progressive demyelination, resulting in a variety of neurological symptoms varying in severity (Kolodny and Fluharty, 1995). The ARSA gene consists of eight exons encoding the 507 amino acid enzyme (Stein et al, 1989). It is transcr...
متن کاملA novel ARSA gene mutation c.302delG in a Chinese patient with metachromatic leukodystrophy
Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disorder mainly caused by the arysulfatase A (ARSA) gene mutations, which results in ARSA activity deficient to accumulate sulfatide in the oligodendrocytes and in the Schwann cells. On the basis of the age of onset, MLD is characterized by three clinical subtypes: late infantile, juvenile, and adult. In this manuscr...
متن کاملIdentification of a novel mutation in ARSA gene in three patients of an Iranian family with metachromatic leukodystrophy disorder
Metachromatic leukodystrophy disorder (MLD) is an autosomal recessive and lysosomal storage disease. The disease is caused by the deficiency of the enzyme arylsulfatase A (ARSA) which is encoded by the ARSA gene. Different mutations have been reported in different populations. The present study was aimed to detect the mutation type of the ARSA gene in three relative Iranian patients. We found a...
متن کاملIdentification of a novel splicing mutation in the ARSA gene in a patient with late-infantile form of metachromatic leukodystrophy.
Metachromatic leukodystrophy (MLD; MIM 250100), a severe neurodegenerative disorder inherited as an autosomal recessive trait, is caused by mutations in the arylsulfatase A (ARSA) gene. Although several germ line ARSA mutations have been identified in patients with MLD of various ethnic backgrounds elsewhere in the world, no genetically confirmed cases of MLD have been reported in Korea. Recent...
متن کاملAdult onset metachromatic leukodystrophy without electroclinical peripheral nervous system involvement: a new mutation in the ARSA gene.
BACKGROUND Metachromatic leukodystrophy (MLD) is a lysosomal storage disease caused by the deficiency of arylsulfatase A (ARSA). Clinically, the disease is heterogeneous with respect to the age of onset, affection of peripheral and central nervous systems, and progression. OBJECTIVES To analyze mutations in the ARSA gene of a patient with adult-onset MLD with no signs of peripheral polyneurop...
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ژورنال
عنوان ژورنال: Journal of Molecular and Genetic Medicine
سال: 2005
ISSN: 1747-0862
DOI: 10.4172/1747-0862.1000003