C9ORF72 repeat expansion not detected in patients with multiple sclerosis

Chiara Fenoglio; Milena De Riz; Chiara Villa; Maria Serpente; Elisa Ridolfi; Rossana Bonsi; Sara M G Cioffi; Cinzia Barone; Anna Pietroboni; Alberto Calvi; Elio Scarpini; Daniela Galimberti

doi:10.1016/j.neurobiolaging.2013.10.096

C9ORF72 repeat expansion not detected in patients with multiple sclerosis

Chiara Fenoglio, Milena De Riz, Chiara Villa, Maria Serpente, Elisa Ridolfi, Rossana Bonsi, Sara M G Cioffi, Cinzia Barone, Anna Pietroboni, Alberto Calvi, Elio Scarpini, Daniela Galimberti

Fondazione IRCCS Ca' Granda- Ospedale Maggiore Policlinico

Research output: Contribution to journal › Article › peer-review

Abstract

A hexanucleotide repeat expansion in the chromosome 9 Open Reading Frame 72 gene (C9ORF72) has recently been reported to be cause of familial amyotrophic lateral sclerosis and frontotemporal lobar degeneration. Nevertheless, in the last few years this mutation has been found to be associated with heterogeneous phenotypes, including multiple sclerosis (MS) in concurrence with amyotrophic lateral sclerosis. In this study, we sought to evaluate the presence of the C9ORF72 repeat expansion in a cohort consisting of 314 patients with MS and 222 control subjects. No pathogenic expansion was found in MS and control populations, suggesting that C9ORF72 does not play a major role in MS pathogenesis.

Original language	English
Journal	Neurobiology of Aging
Volume	35
Issue number	5
DOIs	https://doi.org/10.1016/j.neurobiolaging.2013.10.096
Publication status	Published - May 2014

Keywords

C9ORF72 repeat expansion
Multiple sclerosis
Neurodegeneration

ASJC Scopus subject areas

Clinical Neurology
Neuroscience(all)
Ageing
Developmental Biology
Geriatrics and Gerontology

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10.1016/j.neurobiolaging.2013.10.096

Cite this

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title = "C9ORF72 repeat expansion not detected in patients with multiple sclerosis",

abstract = "A hexanucleotide repeat expansion in the chromosome 9 Open Reading Frame 72 gene (C9ORF72) has recently been reported to be cause of familial amyotrophic lateral sclerosis and frontotemporal lobar degeneration. Nevertheless, in the last few years this mutation has been found to be associated with heterogeneous phenotypes, including multiple sclerosis (MS) in concurrence with amyotrophic lateral sclerosis. In this study, we sought to evaluate the presence of the C9ORF72 repeat expansion in a cohort consisting of 314 patients with MS and 222 control subjects. No pathogenic expansion was found in MS and control populations, suggesting that C9ORF72 does not play a major role in MS pathogenesis.",

keywords = "C9ORF72 repeat expansion, Multiple sclerosis, Neurodegeneration",

author = "Chiara Fenoglio and {De Riz}, Milena and Chiara Villa and Maria Serpente and Elisa Ridolfi and Rossana Bonsi and Cioffi, {Sara M G} and Cinzia Barone and Anna Pietroboni and Alberto Calvi and Elio Scarpini and Daniela Galimberti",

year = "2014",

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doi = "10.1016/j.neurobiolaging.2013.10.096",

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journal = "Neurobiology of Aging",

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T1 - C9ORF72 repeat expansion not detected in patients with multiple sclerosis

AU - Fenoglio, Chiara

AU - De Riz, Milena

AU - Villa, Chiara

AU - Serpente, Maria

AU - Ridolfi, Elisa

AU - Bonsi, Rossana

AU - Cioffi, Sara M G

AU - Barone, Cinzia

AU - Pietroboni, Anna

AU - Calvi, Alberto

AU - Scarpini, Elio

AU - Galimberti, Daniela

PY - 2014/5

Y1 - 2014/5

N2 - A hexanucleotide repeat expansion in the chromosome 9 Open Reading Frame 72 gene (C9ORF72) has recently been reported to be cause of familial amyotrophic lateral sclerosis and frontotemporal lobar degeneration. Nevertheless, in the last few years this mutation has been found to be associated with heterogeneous phenotypes, including multiple sclerosis (MS) in concurrence with amyotrophic lateral sclerosis. In this study, we sought to evaluate the presence of the C9ORF72 repeat expansion in a cohort consisting of 314 patients with MS and 222 control subjects. No pathogenic expansion was found in MS and control populations, suggesting that C9ORF72 does not play a major role in MS pathogenesis.

AB - A hexanucleotide repeat expansion in the chromosome 9 Open Reading Frame 72 gene (C9ORF72) has recently been reported to be cause of familial amyotrophic lateral sclerosis and frontotemporal lobar degeneration. Nevertheless, in the last few years this mutation has been found to be associated with heterogeneous phenotypes, including multiple sclerosis (MS) in concurrence with amyotrophic lateral sclerosis. In this study, we sought to evaluate the presence of the C9ORF72 repeat expansion in a cohort consisting of 314 patients with MS and 222 control subjects. No pathogenic expansion was found in MS and control populations, suggesting that C9ORF72 does not play a major role in MS pathogenesis.

KW - C9ORF72 repeat expansion

KW - Multiple sclerosis

KW - Neurodegeneration

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JO - Neurobiology of Aging

JF - Neurobiology of Aging

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C9ORF72 repeat expansion not detected in patients with multiple sclerosis

Abstract

Keywords

ASJC Scopus subject areas

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