Neurológia pre prax 2/2022

Treatable lysosomal storage disorders with movement disorder manifestations

Lysosomal storage disorders are a group of inherited metabolic disorders caused by mutations in genes encoding soluble lysosomal hydrolases, leading to the progressive accumulation of undegraded macromolecules in vital organs and tissues. Phenotypically, these disorders are characterised by a wide range of clinical symptoms with a combination of visceral, ocular, haematological, skeletal and neurological manifestations, with involvement of the extrapyramidal system being particularly common. Significant progress has been made in the treatment of these diseases in recent years, focusing on various innovative therapeutic approaches. The aim of this review is to focus on the clinical recognition of the most common lysosomal storage disorders with movement disorder manifestations (Gaucher disease, Niemann-Pick disease type C, Fabry disease, Tay-Sachs disease) and the current treatment options available.

Keywords: lysosomal storage disorders, movement disorders, neurodegeneration, parkinsonism, Gaucher disease, Niemann-Pick disease type C, Fabry disease, Tay-Sachs disease, enzyme replacement therapy, ERT, SRT