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

Paolo Niccolo' Doronzio; Serena Lattante; Giuseppe Marangi; Francesco Martello; Amelia Conte; Giulia Bisogni; Daniela Bernardo; Agata Katia Patanella; Emiliana Meleo; Marcella Zollino; Mario Sabatelli

doi:10.1080/21678421.2022.2102430

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

Paolo Niccolo' Doronzio^*, Serena Lattante, Giuseppe Marangi, Francesco Martello, Amelia Conte, Giulia Bisogni, Daniela Bernardo, Agata Katia Patanella, Emiliana Meleo, Marcella Zollino, Mario Sabatelli

^*Autore corrispondente per questo lavoro

Risultato della ricerca: Contributo in rivista › Articolo in rivista

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.

Lingua originale	English
pagine (da-a)	152-154
Numero di pagine	3
Rivista	Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Volume	24
DOI	https://doi.org/10.1080/21678421.2022.2102430
Stato di pubblicazione	Pubblicato - 2023

Keywords

ALS
STMN2
STR

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10.1080/21678421.2022.2102430

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title = "Analysis of STMN2 CA repeats in italian ALS patients shows no association",

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 = "ALS, STMN2, STR, ALS, STMN2, STR",

author = "Doronzio, {Paolo Niccolo'} and Serena Lattante and Giuseppe Marangi and Francesco Martello and Amelia Conte and Giulia Bisogni and Daniela Bernardo and Patanella, {Agata Katia} and Emiliana Meleo and Marcella Zollino and Mario Sabatelli",

year = "2023",

doi = "10.1080/21678421.2022.2102430",

language = "English",

volume = "24",

pages = "152--154",

journal = "Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration",

issn = "2167-8421",

publisher = "Informa Healthcare",

}

TY - JOUR

T1 - Analysis of STMN2 CA repeats in italian ALS patients shows no association

AU - Doronzio, Paolo Niccolo'

AU - Lattante, Serena

AU - Marangi, Giuseppe

AU - Martello, Francesco

AU - Conte, Amelia

AU - Bisogni, Giulia

AU - Bernardo, Daniela

AU - Patanella, Agata Katia

AU - Meleo, Emiliana

AU - Zollino, Marcella

AU - Sabatelli, Mario

PY - 2023

Y1 - 2023

N2 - 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.

AB - 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.

KW - ALS

KW - STMN2

KW - STR

KW - ALS

KW - STMN2

KW - STR

UR - http://hdl.handle.net/10807/232257

U2 - 10.1080/21678421.2022.2102430

DO - 10.1080/21678421.2022.2102430

M3 - Article

SN - 2167-8421

VL - 24

SP - 152

EP - 154

JO - Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

JF - Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

ER -

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

Abstract

Keywords

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