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. © 2014 Elsevier Inc.

C9ORF72 repeat expansion not detected in patients with multiple sclerosis / C. Fenoglio, M. De Riz, C. Villa, M. Serpente, E. Ridolfi, R. Bonsi, S.M.G. Cioffi, C. Barone, A. Pietroboni, A. Calvi, E. Scarpini, D. Galimberti. - In: NEUROBIOLOGY OF AGING. - ISSN 0197-4580. - 35:5(2014), pp. 1213-e2. [10.1016/j.neurobiolaging.2013.10.096]

C9ORF72 repeat expansion not detected in patients with multiple sclerosis

C. Fenoglio
Primo
;
M. De Riz
Secondo
;
M. Serpente;E. Ridolfi;R. Bonsi;A. Pietroboni;A. Calvi;E. Scarpini
Penultimo
;
D. Galimberti
2014

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. © 2014 Elsevier Inc.
C9ORF72 repeat expansion; Multiple sclerosis; Neurodegeneration; Adult; Aged; Amyotrophic Lateral Sclerosis; Female; Frontotemporal Lobar Degeneration; Humans; Male; Middle Aged; Multiple Sclerosis; Proteins; DNA Repeat Expansion; Neurology (clinical); Neuroscience (all); Aging; Developmental Biology; Geriatrics and Gerontology
Settore MED/26 - Neurologia
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2434/249365
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