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

Sokratous, Maria; Schottlaender, Lucía V.; Bourinaris, Thomas; Marogianni, Chrysoula; Arnaoutoglou, Marianthi; Patrikiou, Eleni; Ralli, Styliani; Markou, Aikaterini; Dardiotis, Efthimios; Houlden, Henry; Hadjigeorgiou, Georgios M.; Xiromerisiou, Georgia

dc.contributor.author	Sokratous, Maria
dc.contributor.author	Schottlaender, Lucía V.
dc.contributor.author	Bourinaris, Thomas
dc.contributor.author	Marogianni, Chrysoula
dc.contributor.author	Arnaoutoglou, Marianthi
dc.contributor.author	Patrikiou, Eleni
dc.contributor.author	Ralli, Styliani
dc.contributor.author	Markou, Aikaterini
dc.contributor.author	Dardiotis, Efthimios
dc.contributor.author	Houlden, Henry
dc.contributor.author	Hadjigeorgiou, Georgios M.
dc.contributor.author	Xiromerisiou, Georgia
dc.date.accessioned	2021-01-27T15:03:29Z
dc.date.available	2021-01-27T15:03:29Z
dc.date.issued	2020-07
dc.identifier.citation	Sokratous, M., Schottlaender, L., Bourinaris, T., Marogianni, C., Arnaoutoglou, M., Patrikiou, E., Ralli, S., Markou, A., Dardiotis, E., Houlden, H., Hadjigeorgiou, G.M., Xiromerisiou, G., 2020. Prevalence of C9orf72 hexanucleotide repeat expansion in Greek patients with sporadic ALS. Amyotroph Lateral Scler Frontotemporal Degener 1–3. https://doi.org/10.1080/21678421.2020.1757115	en_US
dc.identifier.uri	https://repositorio.fleni.org.ar/handle/123456789/346
dc.identifier.uri	https://doi.org/10.1080/21678421.2020.1757115
dc.description.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.	en_US
dc.language.iso	eng	en_US
dc.publisher	Taylor & Francis	en_US
dc.rights	info:eu-repo/semantics/openAccess
dc.rights.uri	https://creativecommons.org/licenses/by/2.5/ar/
dc.subject	Amyotrophic Lateral Sclerosis	en_US
dc.subject	Esclerosis Amiotrófica Lateral	en_US
dc.subject	C9orf72 Protein	en_US
dc.subject	Proteína C9orf72	en_US
dc.title	Prevalence of C9orf72 hexanucleotide repeat expansion in Greek patients with sporadic ALS	en_US
dc.type	info:eu-repo/semantics/publishedVersion
dc.type	info:eu-repo/semantics/article	en_US
dc.description.fil	Fil: Sokratous, Maria. University Hospital of Larissa. Department of Neurology. Faculty of Medicine School of Health Sciences; Grecia. University of Thessaly; Grecia.
dc.description.fil	Fil: Schottlaender, Lucía V. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Fleni. Departamento de Neurología; Argentina.
dc.description.fil	Fil: Bourinaris, Thomas. UCL Institute of Neurology. Department of Molecular Neuroscience; Reino Unido.
dc.description.fil	Fil: Marogianni, Chrysoula. University Hospital of Larissa. Department of Neurology. Faculty of Medicine School of Health Sciences; Grecia. University of Thessaly; Grecia.
dc.description.fil	Fil: Arnaoutoglou, Marianthi. AHEPA Hospital. First Neurology Clinic; Grecia. Aristotle University of Thessaloniki. Faculty of Health Sciences. School of Medicine; Grecia.
dc.description.fil	Fil: Patrikiou, Eleni. University of Thessaly. Faculty of Medicine. Faculty of Medicine School of Health Sciences. Department of Rheumatology and Clinical Immunology; Grecia.
dc.description.fil	Fil: Ralli, Styliani. University Hospital of Larissa. Department of Neurology. Faculty of Medicine School of Health Sciences; Grecia. University of Thessaly; Grecia.
dc.description.fil	Fil: Markou, Aikaterini. University Hospital of Larissa. Department of Neurology. Faculty of Medicine School of Health Sciences; Grecia. University of Thessaly; Grecia.
dc.description.fil	Fil: Dardiotis, Efthimios. University Hospital of Larissa. Department of Neurology. Faculty of Medicine School of Health Sciences; Grecia. University of Thessaly; Grecia.
dc.description.fil	Fil: Houlden, Henry. UCL Institute of Neurology. Department of Molecular Neuroscience; Reino Unido.
dc.description.fil	Fil: Hadjigeorgiou, Georgios M. University Hospital of Larissa. Department of Neurology. Faculty of Medicine School of Health Sciences; Grecia. University of Thessaly; Grecia. Medical School, University of Cyprus. Department of Neurology; Chipre.
dc.description.fil	Fil: Xiromerisiou, Georgia. Medical School, University of Cyprus. Department of Neurology; Chipre.
dc.relation.ispartofVOLUME	21
dc.relation.ispartofNUMBER	5-6
dc.relation.ispartofPAGINATION	470-472.
dc.relation.ispartofCOUNTRY	Inglaterra
dc.relation.ispartofCITY	Oxford
dc.relation.ispartofTITLE	Amyotrophic lateral sclerosis & frontotemporal degeneration
dc.relation.ispartofISSN	2167-9223
dc.type.snrd	info:ar-repo/semantics/artículo	es_ES