C9ORF72 repeat expansion in a large Italian ALS cohort: evidence of a founder effect.

doi:10.1016/j.neurobiolaging.2012.06.008

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Article

C9ORF72 repeat expansion in a large Italian ALS cohort: evidence of a founder effect.

Neurobiology of aging - 1 Oct 2012

Ratti Antonia, Corrado Lucia, Castellotti Barbara, Del Bo Roberto, Fogh Isabella, Cereda Cristina, Tiloca Cinzia, D'Ascenzo Carla, Bagarotti Alessandra, Pensato Viviana, Ranieri Michela, Gagliardi Stella, Calini Daniela, Mazzini Letizia, Taroni Franco, Corti Stefania, Ceroni Mauro, Oggioni Gaia D, Lin Kuang, Powell John F, Sorarù Gianni, Ticozzi Nicola, Comi Giacomo P, D'Alfonso Sandra, Gellera Cinzia, Silani Vincenzo

Abstract excerpt

A hexanucleotide repeat expansion (RE) in C9ORF72 gene was recently reported as the main cause of amyotrophic lateral sclerosis (ALS) and cases with frontotemporal dementia. We screened C9ORF72 in a large cohort of 259 familial ALS, 1275 sporadic ALS, and 862 control individuals of Italian descent. We found RE in 23.9% familial ALS, 5.1% sporadic ALS, and 0.2% controls. Two cases carried the RE together with...

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PMID: 22766072
DOI: 10.1016/j.neurobiolaging.2012.06.008

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