Clinicogenetic characterization and response to disease-modifying therapies in spinal muscular atrophy: real-world experience from a reference center in Southern Brazil.

Objective: Spinal Muscular Atrophy linked to chromosome 5q (SMA) is an autosomal recessive neurodegenerative disease characterized by progressive proximal muscle atrophy and weakness. This study addresses the scarcity of research on novel disease-modifying therapies for SMA in Latin America by reporting a real-world experience in Southern Brazil.

Methodology: This is a single-center historical cohort that included all patients diagnosed with spinal muscular atrophy at a Regional Reference Service for rare diseases.

Estimating the rate of failure to notice function word errors in natural reading.

Skilled readers sometimes fail to notice seemingly obvious errors in text, such as the repetition or omission of a function word or the transposition of two words, suggesting that linguistic knowledge can override bottom-up input at either a perceptual or postperceptual level. The present study investigates the role of this top-down process of error correction in natural reading of extended texts. In previous research, critical sentences have been presented one at a time, and subjects were explicitly tasked with detecting errors.

Perceptual inference corrects function word errors in reading: Errors that are not noticed do not disrupt eye movements.

Both everyday experience and laboratory research demonstrate that readers often fail to notice errors such as an omitted or repeated function word. This phenomenon challenges central tenets of reading and sentence processing models, according to which each word is lexically processed and incrementally integrated into a syntactic representation. One solution would propose that apparent failure to notice such errors reflects post-perceptual inference; the reader does initially perceive the error, but then unconsciously 'corrects' the perceived string.

Serum myostatin as a candidate disease severity and progression biomarker of spinal muscular atrophy.

The identification of biomarkers for spinal muscular atrophy is crucial for predicting disease progression, severity, and response to new disease-modifying therapies. This study aimed to investigate the role of serum levels of myostatin and follistatin as biomarkers for spinal muscular atrophy, considering muscle atrophy secondary to denervation as the main clinical manifestation of the disease. The study evaluated the differential gene expression of myostatin and follistatin in a lesional model of denervation in mice, as well as in a meta-analysis of three datasets in transgenic mice models of spinal muscular atrophy, and in two studies involving humans with spinal muscular atrophy.