Seed-competent α-synuclein pathology in metachromatic leukodystrophy: the expanding spectrum of α-synucleinopathy in sphingolipidoses
Simona Ghanem,
Jade Hawksworth,
Searlait Thom
et al.
Abstract:Metachromatic leukodystrophy (MLD) is a rare - typically paediatric - sphingolipid storage disorder resulting from bi-allelic pathogenic variants in theARSAgene, encoding the lysosomal arylsulphatase A (ASA). Heterozygous variants inARSAare associated with risk of Lewy body diseases (LBD), a group of age-associated neurodegenerative disorders characterised by the accumulation of the protein α-synuclein; however, no study has yet determined whether α-synuclein with putative pathological features is observed in … Show more
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