作者
Dhamidhu Eratne, Courtney Lewis, Wendy Kelso, Samantha Loi, Wei-Hsuan Michelle Chiu, Kaj Blennow, Henrik Zetterberg, Alexander F Santillo, Dennis Velakoulis, Mark Walterfang, MiND Study Group
发表日期
2024/3/27
期刊
Acta Neuropsychiatrica
页码范围
1-6
出版商
Cambridge University Press
简介
Objective
Niemann-Pick Type C (NPC) is a genetic neurodegenerative lysosomal storage disorder commonly associated with psychiatric symptoms and delays to accurate diagnosis and treatment. This study investigated biomarker levels and diagnostic utility of plasma neurofilament light chain (NfL) and glial fibrillary acidic protein (GFAP) in NPC compared to healthy controls.
Methods
Patients with NPC were recruited from a specialist assessment and management service. Data was available from an age and sex-matched healthy control group. NfL and GFAP were measured on Quanterix Simoa HD-X analysers and groups compared using generalised linear models. NfL levels were compared to, and percentiles derived from, recently developed NfL reference ranges.
Results
Plasma NfL was significantly elevated in 11 patients with NPC compared to 25 controls (mean 17.1 vs. 7.4 pg/ml, p < 0.001), and reference …
学术搜索中的文章
D Eratne, C Lewis, W Kelso, S Loi, WHM Chiu… - Acta Neuropsychiatrica, 2024