Analysis of STMN2 CA repeats in italian ALS patients shows no association. Issue 1 (2nd January 2023)

• Record Type: Journal Article
• Authors: Doronzio, Paolo Niccolò; Lattante, Serena; Marangi, Giuseppe; Martello, Francesco; Conte, Amelia; Bisogni, Giulia; Bernardo, Daniela; Patanella, Agata Katia; Meleo, Emiliana; Zollino, Marcella; Sabatelli, Mario
• Is Part Of: Amyotrophic lateral sclerosis and frontotemporal degeneration. Volume 24:Issue 1/2(2023)
• Page Start: 152
• Page End: 154
• Publication Date: 2023-01-02
• Subjects: ALS -- STMN2 -- STR; 616.839
• DOI: 10.1080/21678421.2022.2102430
• Languages: English
• ISSNs: 2167-8421

Abstract

Abstract: Amyotrophic Lateral Sclerosis (ALS) is a fatal neurodegenerative disease caused by a complex interaction of genetic and environmental factors. Recently, a polymorphic intronic CA repeat in STMN2 gene has been proposed as risk factor for ALS. The presence of long/long CA genotype, especially if one allele had 24 CA, was reported to be significantly associated with the disease in a cohort of sporadic ALS patients. We tested an Italian cohort of 366 ALS patients and 353 healthy controls and we found no association between CA length and ALS risk.