Plasma Neurofilament Light (NfL) in Patients Affected by Niemann-Pick Type C Disease (NPCD).

ABSTRACT: (1) Background: Niemann-Pick type C disease (NPCD) is an autosomal recessive lysosomal storage disorder caused by mutations in the NPC1 or NPC2 genes. The clinical presentation is characterized by visceral and neurological involvement. Apart from a small group of patients presenting a severe perinatal form, all patients develop progressive and fatal neurological disease with an extremely variable age of onset. Different biomarkers have been identified; however, they poorly correlate with neurological disease. In this study we assessed the possible role of plasma NfL as a neurological disease-associated biomarker in NPCD. (2) Methods: Plasma NfL levels were measured in 75 healthy controls and 26 patients affected by NPCD (24 NPC1 and 2 NPC2; 39 samples). (3) Results: Plasma NfL levels in he

SUBMITTER: Dardis A 

PROVIDER: S-EPMC8537496 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature