Association of Variants in the SPTLC1 Gene with Juvenile Amyotrophic Lateral Sclerosis

Key Points Question What genetic variants are associated with juvenile amyotrophic lateral sclerosis (ALS)? Findings In this family-based genetic study, exome sequencing was performed in 3 patients diagnosed with juvenile ALS and failure to thrive; this identified de novo variants in SPTLC1 (p.Ala20Ser in 2 patients and p.Ser331Tyr in 1 patient). Variants in SPTLC1 are a known cause of hereditary sensory and autonomic neuropathy, type 1A, and these data extend the phenotype associated with this gene. Meaning De novo variants in the SPTLC1 gene are associated with juvenile ALS, a fatal neurological disorder.

NEW ANTHROPOLOGICAL DATA FROM THE ARCHAIC CEMETERY AT MOTYA

The archaic necropolis at Motya has been long recognized as a site of great interest for the study of Phoenician burial customs in the West. Since its discovery by Joseph Whitaker more than a century ago, over 300 burials have been brought to light - mainly dating to the late 8th-7th century BC. Burials are characterized by jars used as urns and box-shaped stone cists containing the ashes and burnt bones of the dead. These are indeed secondary cremations, a very common funerary ritual of the Iron Age in the Phoenician homeland and in the colonies overseas. Despite the relevant bearing of this cemetery on historical and cultural grounds, anthropological analysis unfortunately has been mostly…

Erythropoietin: not just about erythropoiesis.

Erythropoietin in amyotrophic lateral sclerosis: a multicentre, randomized, double blind, placebo controlled, phase III study.

Objective To assess the efficacy of recombinant human erythropoietin (rhEPO) in amyotrophic lateral sclerosis (ALS). Methods Patients with probable laboratory-supported, probable or definite ALS were enrolled by 25 Italian centres and randomly assigned (1:1) to receive intravenous rhEPO 40 000 IU or placebo fortnightly as add-on treatment to riluzole 100 mg daily for 12 months. The primary composite outcome was survival, tracheotomy or >23 h non-invasive ventilation (NIV). Secondary outcomes were ALSFRS-R, slow vital capacity (sVC) and quality of life (ALSAQ-40) decline. Tolerability was evaluated analysing adverse events (AEs) causing withdrawal. The randomisation sequence was computer-…