Artículo
Prevalence of C9orf72 hexanucleotide repeat expansion in Greek patients with sporadic ALS
Sokratous, Maria; Schottlaender, Lucia Valentina
; Bourinaris, Thomas; Marogianni, Chrysoula; Arnaoutoglou, Marianthi; Patrikiou, Eleni; Ralli, Styliani; Markou, Aikaterini; Dardiotis, Efthimios; Houlden, Henry; Hadjigeorgiou, Georgios M.; Xiromerisiou, Georgia
Fecha de publicación:
07/2020
Editorial:
Taylor & Francis
Revista:
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
ISSN:
2167-8421
e-ISSN:
2167-9223
Idioma:
Inglés
Tipo de recurso:
Artículo publicado
Clasificación temática:
Resumen
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.
Archivos asociados
Licencia
Identificadores
Colecciones
Articulos(SEDE CENTRAL)
Articulos de SEDE CENTRAL
Articulos de SEDE CENTRAL
Citación
Sokratous, Maria; Schottlaender, Lucia Valentina; Bourinaris, Thomas; Marogianni, Chrysoula; Arnaoutoglou, Marianthi; et al.; Prevalence of C9orf72 hexanucleotide repeat expansion in Greek patients with sporadic ALS; Taylor & Francis; Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration; 21; 5-6; 7-2020; 470-472
Compartir
Altmétricas