Article

Seed-competent α-synuclein pathology in metachromatic leukodystrophy: the expanding spectrum of α-synucleinopathy in sphingolipidoses

2024-08-09

Abstract excerpt

<h4>ABSTRACT</h4> Metachromatic leukodystrophy (MLD) is a rare - typically paediatric - sphingolipid storage disorder resulting from bi-allelic pathogenic variants in the ARSA gene, encoding the lysosomal arylsulphatase A (ASA). Heterozygous variants in ARSA are associated with risk of Lewy body diseases (LBD), a group of age-associated neurodegenerative disorders characterised by the accumulation of the protei...

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Literature Corpus work: 56ba43fd-f1ba-5149-8b6b-b34659d21437
DOI: 10.1101/2024.08.09.607301

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