Identification of cerebral spinal fluid protein biomarkers in Niemann-Pick disease, type C1.

ABSTRACT:

Background

Niemann-Pick disease, type C1 (NPC1) is an ultrarare, recessive, lethal, lysosomal disease characterized by progressive cerebellar ataxia and cognitive impairment. Although the NPC1 phenotype is heterogeneous with variable age of onset, classical NPC1 is a pediatric disorder. Currently there are no therapies approved by the FDA and therapeutics trials for NPC1 are complicated by disease rarity, heterogeneity, and the relatively slow rate of neurological decline. Thus, identification of disease relevant biomarkers is necessary to provide tools that can support drug development efforts for this devastating neurological disease.

Methods

Proximal extension assays (O-link® Explore 1536) were used to compare cerebrospinal fluid (CSF) samples from individuals with NPC1 e

SUBMITTER: Campbell K 

PROVIDER: S-EPMC9887810 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature