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.
Doronzio, P. N., Lattante, S., Marangi, G., Martello, F., Conte, A., Bisogni, G., Bernardo, D., Patanella, A. K., Meleo, E., Zollino, M., Sabatelli, M., Analysis of STMN2 CA repeats in italian ALS patients shows no association, <<AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION>>, 2023; 24 (1-2): 152-154. [doi:10.1080/21678421.2022.2102430] [https://hdl.handle.net/10807/232257]
Analysis of STMN2 CA repeats in italian ALS patients shows no association
Doronzio, Paolo Niccolo'
Primo
;Lattante, Serena;Marangi, Giuseppe;Martello, Francesco;Meleo, Emiliana;Zollino, Marcella;Sabatelli, Mario
2023
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.
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