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Brief Reports

Prevalence of C9orf72 hexanucleotide repeat expansion in Greek patients with sporadic ALS

, , , , , , , , , , & show all
Pages 470-472 | Received 21 Jan 2020, Accepted 13 Apr 2020, Published online: 26 Apr 2020
 

Abstract

A total of 178 consecutive patients with definite sALS without frontotemporal dementia (FTD) were enrolled in this study, after complete clinical evaluation. A Repeat-Primed Polymerase Chain Reaction (RP-PCR) protocol was applied to detect the G4C2 repeats expansions. In the studied sALS patients, 5.06% (n = 9) carried the C9orf72 mutation. Among carriers, 2/3 of them were females and spinal onset accounted for 78% and bulbar for 22%, while the mean age of onset was about 60 years. Our study showed that the prevalence of C9orf72 repeat expansion in Greek sALS patients is similar to the overall frequency of the mutation in European populations. The pathogenic mutation remains a promising biomarker for genetic testing and targeted treatment.

Disclosure statement

All authors declare that there is no conflict of interest.

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