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Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration Volume 24, 2023 - Issue 1-2
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Brief Reports: Genomics

Analysis of STMN2 CA repeats in italian ALS patients shows no association

Paolo Niccolò Doronzio1 Department of Life Sciences and Public Health, Universitá Cattolica del Sacro Cuore, Rome, ItalyCorrespondence[email protected]
,
Serena Lattante1 Department of Life Sciences and Public Health, Universitá Cattolica del Sacro Cuore, Rome, Italy
,
Giuseppe Marangi1 Department of Life Sciences and Public Health, Universitá Cattolica del Sacro Cuore, Rome, Italy
,
Francesco Martello1 Department of Life Sciences and Public Health, Universitá Cattolica del Sacro Cuore, Rome, Italy
,
Amelia Conte2 Adult NEMO Clinical Center, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy, and
,
Giulia Bisogni2 Adult NEMO Clinical Center, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy, and
,
Daniela Bernardo2 Adult NEMO Clinical Center, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy, and
,
Agata Katia Patanella2 Adult NEMO Clinical Center, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy, and
,
Emiliana Meleo2 Adult NEMO Clinical Center, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy, and
,
Marcella Zollino1 Department of Life Sciences and Public Health, Universitá Cattolica del Sacro Cuore, Rome, Italy
&
Mario Sabatelli3 Department of Neurology, Universitá Cattolica del Sacro Cuore, Rome, Italy
 show all
Pages 152-154 | Received 23 Apr 2022, Accepted 04 Jul 2022, Published online: 23 Jul 2022
 
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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.

Keywords:

Acknowledgements

The authors are grateful to patients involved in our study. The authors thank ICOMM Onlus for supporting our research. P.N.D. is supported by a postdoctoral fellowship from ICOMM Onlus.

Declaration of interest

No potential conflict of interest was reported by the author(s).

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