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Article

Apolipoprotein E genotype and LRP1 polymorphisms in patients with different clinical types of metachromatic leukodystrophy.

Gene - 10 Sept 2013

Ługowska Agnieszka, Musielak Małgorzata, Jamroz Ewa, Pyrkosz Antoni, Kmieć Tomasz, Tylki-Szymańska Anna, Bednarska-Makaruk Małgorzata

Abstract excerpt

Metachromatic leukodystrophy (MLD) is a severe, neurodegenerative, metabolic disease which is caused by deficient activity of arylsulfatase A (ARSA). Sulfatides and other substrates of ARSA are stored in central and peripheral nervous systems, and in some other organs. Accumulated sulfatides are especially toxic to oligodendrocytes and Schwann cells leading to progressive demyelination. The kind of apolipoprotein...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23701968
DOI: 10.1016/j.gene.2013.05.009

Genes

LRP1
APOE
ARSA

Variants

Provenance

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