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Analysis of STMN2 CA repeats in italian ALS patients shows no association.
Doronzio, Paolo Niccolò; Lattante, Serena; Marangi, Giuseppe; Martello, Francesco; Conte, Amelia; Bisogni, Giulia; Bernardo, Daniela; Patanella, Agata Katia; Meleo, Emiliana; Zollino, Marcella; Sabatelli, Mario.
Afiliación
  • Doronzio PN; Department of Life Sciences and Public Health, Universitá Cattolica del Sacro Cuore, Rome, Italy.
  • Lattante S; Department of Life Sciences and Public Health, Universitá Cattolica del Sacro Cuore, Rome, Italy.
  • Marangi G; Department of Life Sciences and Public Health, Universitá Cattolica del Sacro Cuore, Rome, Italy.
  • Martello F; Department of Life Sciences and Public Health, Universitá Cattolica del Sacro Cuore, Rome, Italy.
  • Conte A; Adult NEMO Clinical Center, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy, and.
  • Bisogni G; Adult NEMO Clinical Center, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy, and.
  • Bernardo D; Adult NEMO Clinical Center, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy, and.
  • Patanella AK; Adult NEMO Clinical Center, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy, and.
  • Meleo E; Adult NEMO Clinical Center, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy, and.
  • Zollino M; Department of Life Sciences and Public Health, Universitá Cattolica del Sacro Cuore, Rome, Italy.
  • Sabatelli M; Department of Neurology, Universitá Cattolica del Sacro Cuore, Rome, Italy.
Article en En | MEDLINE | ID: mdl-35876065
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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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedades Neurodegenerativas / Esclerosis Amiotrófica Lateral Tipo de estudio: Risk_factors_studies Límite: Humans País/Región como asunto: Europa Idioma: En Revista: Amyotroph Lateral Scler Frontotemporal Degener Año: 2023 Tipo del documento: Article País de afiliación: Italia

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedades Neurodegenerativas / Esclerosis Amiotrófica Lateral Tipo de estudio: Risk_factors_studies Límite: Humans País/Región como asunto: Europa Idioma: En Revista: Amyotroph Lateral Scler Frontotemporal Degener Año: 2023 Tipo del documento: Article País de afiliación: Italia