0000000001163794
AUTHOR
P Carrera
ATNX2 is not a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 GGGGCC expansion
Abstract There are indications that both familial amyotrophic lateral sclerosis (ALS) and sporadic ALS phenotype and prognosis are partly regulated by genetic and environmental factors, supporting the theory that ALS is a multifactorial disease. The aim of this article was to assess the role of ATXN2 intermediate length repeats in a large series of Italian and Sardinian ALS patients and controls carrying a pathogenetic C9ORF72 GGGGCC hexanucleotide repeat. A total of 1972 ALS cases were identified through the database of the Italian ALS Genetic consortium, a collaborative effort including 18 ALS centers throughout Italy. The study population included: (1) 276 Italian and 57 Sardinian ALS ca…
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.
Strategie formative sui medici potenziali prescrittori per il corretto uso dei test genomici: l'esperienza italiana
Pressioni del mercato, politiche regolatorie, linee guida cliniche e domanda dei consumatori, sono tutti fattori che influiscono sulla conoscenza degli erogatori dell’assistenza sanitaria e sull'uso dei test genetici venduti e/o pubblicizzati direttamente ai consumatori. Obiettivo è presentare un innovativo programma pilota di istruzione e formazione sul corretto uso dei test genomici, dedicato ai potenziali prescrittori, nell'ambito di un progetto finanziato dal Centro Nazionale per il Controllo delle Malattie del Ministero della Salute. Un gruppo di esperti, rappresentanti delle sei regioni coinvolte nel progetto, ha definito i contenuti di un corso modulare concepito per essere somminist…