Long-term CSF responses in adult patients with spinal muscular atrophy type 2 or 3 on treatment with nusinersen.

ABSTRACT:

Background

5q-associated spinal muscular atrophy (SMA) is a monogenic disease causing progressive alpha motor neuron degeneration, muscle atrophy, and weakness. Intrathecal therapy with the antisense oligonucleotide nusinersen modifies the disease course. However, biomarkers for understanding underlying molecular pathomechanisms and monitoring therapy are not yet known.

Methods

A total of 130 cerebrospinal fluid (CSF) samples from 24 adult patients with SMA type 2 or 3 were collected over 3.5 years, and CSF proteome was analyzed using mass spectrometry (MS). By applying two complementary MS protein quantification methods, label-free quantification (LFQ) and tandem mass tag (TMT) isotopic labeling, specific protein patterns reflecting changes in the CSF in response to nusiner

SUBMITTER: Cebulla G 

PROVIDER: S-EPMC11909034 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature