Sokratous, M;
Lucia, S;
Bourinaris, T;
Marogianni, C;
Arnaoutoglou, M;
Patrikiou, E;
Ralli, S;
... Xiromerisiou, G; + view all
(2020)
Prevalence of C9orf72 hexanucleotide repeat expansion in Greek patients with sporadic ALS.
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
, 21
(5-6)
pp. 470-472.
10.1080/21678421.2020.1757115.
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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.
| Type: | Article |
|---|---|
| Title: | Prevalence of C9orf72 hexanucleotide repeat expansion in Greek patients with sporadic ALS |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1080/21678421.2020.1757115 |
| Publisher version: | https://doi.org/10.1080/21678421.2020.1757115 |
| Language: | English |
| Additional information: | This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions. |
| Keywords: | Science & Technology, Life Sciences & Biomedicine, Clinical Neurology, Neurosciences & Neurology, C9orf72 expansion, hexanucleotide repeats, Greek cohort, sporadic amyotrophic lateral sclerosis, SEX |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases |
| URI: | https://discovery-pp.ucl.ac.uk/id/eprint/10107077 |
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