Phenotype-specific gene expression signature in unmutated sALS patients' peripheral blood

The database includes the raw data of the article "Phenotype-specific gene expression signature in unmutated sALS patients' peripheral blood". Aim of this work was to define the transcriptomic signature of distinct ALS phenotypes, and to use this information for biomarkers development. We characterized n=48 sALS patients by clinical and paraclinical parameteres, and subdivided them in "Classic" (n=12), "Bulbar" (n=10), "Flail Arm" (n=7), "Flail Leg" (n=10) and "Pyramidal" (n=9) phenotypes. RNAs extracted from PBMCs isolated from patients and n=19 controls were sequenced. Our analysis allowed the visualization of gene expression clusters between patients and controls, except for "Flail Arm" group. Only one gene (Y-RNA, a misc_RNA component of the Ro60 ribonucleoprotein involved in cellular response to interferon-alpha) was upregulated at different levels across all phenotypes, whereas the other genes appeared to be more phenotype-specific. Taken together, our results indicate both the specificity of gene expression for each phenotype, and the presence of a shared altered transcript able to distinguish the analyzed phenotypes. Future goal is to determine a 'Y-RNA signature' in plasma and a multi-parametric prognostic score that could represent a simple and fast element for early diagnosis and discrimination among sALS phenotypes.