Plasma Neurofilament Light Chain Is Elevated in Adaptor Protein Complex 4-Related Hereditary Spastic Paraplegia.

ABSTRACT:

Background

Adaptor protein complex 4-associated hereditary spastic paraplegia (AP-4-HSP) is caused by pathogenic biallelic variants in AP4B1, AP4M1, AP4E1, and AP4S1.

Objective

The aim was to explore blood markers of neuroaxonal damage in AP-4-HSP.

Methods

Plasma neurofilament light chain (pNfL) and glial fibrillary acidic protein (GFAP) levels were measured in samples from patients and age- and sex-matched controls (NfL: n = 46 vs. n = 46; GFAP: n = 14 vs. n = 21) using single-molecule array assays. Patients' phenotypes were systematically assessed using the AP-4-HSP natural history study questionnaires, the Spastic Paraplegia Rating Scale, and the SPATAX disability score.

Results

pNfL levels increased in AP-4-HSP patients, allowing differentiation from contro

SUBMITTER: Alecu JE 

PROVIDER: S-EPMC10529494 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature