TDP-43 seeding activity in the olfactory mucosa of patients with amyotrophic lateral sclerosis.

ABSTRACT:

Background

In recent years, the seed amplification assay (SAA) has enabled the identification of pathological TDP-43 in the cerebrospinal fluid (CSF) and olfactory mucosa (OM) of patients with genetic forms of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Here, we investigated the seeding activity of TDP-43 in OM samples collected from patients with sporadic ALS.

Methods

OM samples were collected from patients with (a) sporadic motor neuron diseases (MND), including spinal ALS (n = 35), bulbar ALS (n = 18), primary lateral sclerosis (n = 10), and facial onset sensory and motor neuronopathy (n = 2); (b) genetic MND, including carriers of C9orf72^exp (n = 6), TARDBP (n = 4), SQSTM1 (n = 3), C9orf72^exp + SQSTM1 (n = 1), OPTN (n = 1)

SUBMITTER: Vizziello M 

PROVIDER: S-EPMC12034174 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature