کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
5896519 1154961 2015 13 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
11Metachromatic leukodystrophy: Disease spectrum and approaches for treatment
ترجمه فارسی عنوان
11 متابولیسم متاکروماتیک: طیف بیماری و رویکردهای درمان
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی علوم غدد
چکیده انگلیسی

Metachromatic leukodystrophy is an inherited lysosomal disorder caused by recessive mutations in ARSA encoding arylsulfatase A. Low activity of arylsulfatase A results in the accumulation of sulfatides in the central and peripheral nervous system leading to demyelination. The disease is classified in 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 diagnostic process and efficacy of current and possible future therapies such as hematopoietic stem cell transplantation, enzyme replacement therapy and gene therapy. A systematic evaluation regarding the efficacy of hematopoietic stem cell transplantation and a longer follow up period for gene therapy are needed to come to a general conclusion and improve treatment options for metachromatic leukodystrophy.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Best Practice & Research Clinical Endocrinology & Metabolism - Volume 29, Issue 2, March 2015, Pages 261-273
نویسندگان
, , , ,