Distinct Neurodegenerative Pathways in Two NBIA Subtypes: Inflammatory Activation in <i>C19orf12</i> but Not in <i>PANK2</i> Mutation Carriers.

ABSTRACT:

Background

Biomarker analysis in neurodegeneration with brain iron accumulation (NBIA) can offer valuable insights into the disease's pathology and natural history.

Methods

Twenty-five patients with C19orf12 mutations causing mitochondrial membrane protein-associated neurodegeneration (MPAN), 12 patients with PANK2 mutations causing pantothenate kinase-associated neurodegeneration (PKAN), and 30 age- and gender-matched controls were studied. Serum levels of MMP-9, S100B, ICAM-1, E- and P-selectins, total α-synuclein, neurofilament light chain (NfL), glial fibrillary acidic protein (GFAP), Tau, ubiquitin-C-terminal hydrolase-L1 (UCH-L1), and brain-derived neurotrophic factor (BDNF) were measured. Clinical status was evaluated with dedicated rating scales.

Res

SUBMITTER: Skowronska M 

PROVIDER: S-EPMC12651203 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature