SMN protein is required throughout life to prevent spinal muscular atrophy disease progression.

Spinal muscular atrophy (SMA) is caused by the loss of the survival motor neuron 1 (SMN1) gene function. The related SMN2 gene partially compensates but produces insufficient levels of SMN protein due to alternative splicing of exon 7. Evrysdi™ (risdiplam), recently approved for the treatment of SMA, and related compounds promote exon 7 inclusion to generate full-length SMN2 mRNA and increase SMN protein levels.

Positive and negative symptoms of schizotypy and the Five-factor model: a domain and facet level analysis.

In this study, we investigated the Five-factor model in the concurrent prediction of positive symptom schizotypy as measured by the Magical Ideation (Eckblad & Chapman, 1983) and Perceptual Aberration (Chapman, Chapman, & Raulin, 1978) scales and negative symptom schizotypy as measured by the Physical Anhedonia (Chapman, Chapman, & Raulin, 1976) and Revised Social Anhedonia (Eckblad, Chapman, Chapman, & Mishlove, 1982; Mishlove & Chapman, 1985) scales. Previous studies suggest that these measures reflect the core symptoms found in schizotypal and schizoid personality disorder (Bailey, West, Widiger, & Freiman, 1993). Negative symptoms were significantly predicted by Neuroticism (+), Extraversion (-), Openness (-), and Agreeableness (-) domains of the Revised NEO Personality Inventory (NEO-PI-R; Costa & McCrae, 1992).