Metachromatic leukodystrophy
10.3760/cma.j.issn.1673-4408.2018.10.003
- VernacularTitle:异染性脑白质营养不良
- Author:
Kunfang YANG
1
Author Information
1. 200062,上海市儿童医院 上海交通大学附属儿童医院神经内科
- Keywords:
Metachromatic leukodystrophy;
ARSA gene;
Lysosomal disorder
- From:
International Journal of Pediatrics
2018;45(10):752-755,760
- CountryChina
- Language:Chinese
-
Abstract:
Metachromatic leukodystrophy is an inherited lysosomal disorder caused by autosomal reces-sive mutations of ARSA gene or PASP gene,which result in the accumulation of sulfatides in the central and pe-ripheral nervous system leading to demyelination. The disease is classified into a late-infantile,juvenile and adult onset type based on the age of onset,all characterized by a variety of neurological symptoms,which eventually lead to death if untreated. There is no curative treatment for all types and stages. This review discusses pathogen-esis,clinical manifestations,diagnostic process and efficacy of current and possible future therapies such as en-zyme replacement therapy,hematopoietic stem cell transplantation and gene therapy. A longer follow up period for the above therapies are needed to come to a general conclusion and improve treatment options for metachro-matic leukodystrophy.
