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

Maria SokratousFaculty of Medicine School of Health Sciences, Department of Neurology, University Hospital of Larissa, University of Thessaly, Larissa, Greece,

Schottlaender LuciaArgentine National Scientific and Technological Research Council (CONICET), FLENI Neurological Research Institute, Buenos Aires, Argentina,

Thomas BourinarisDepartment of Molecular Neuroscience, UCL Institute of Neurology, London, UK,

Chrysoula MarogianniFaculty of Medicine School of Health Sciences, Department of Neurology, University Hospital of Larissa, University of Thessaly, Larissa, Greece,

Marianthi ArnaoutoglouFirst Neurology Clinic, AHEPA Hospital, School of Medicine, Faculty of Health Sciences, Aristotle University of Thessaloniki, Thessaloniki, Greece,

Eleni PatrikiouFaculty of Medicine, Department of Rheumatology and Clinical Immunology, School of Health Sciences, University of Thessaly, Larisa, Greece, and

Styliani RalliFaculty of Medicine School of Health Sciences, Department of Neurology, University Hospital of Larissa, University of Thessaly, Larissa, Greece,

Aikaterini MarkouFaculty of Medicine School of Health Sciences, Department of Neurology, University Hospital of Larissa, University of Thessaly, Larissa, Greece,

Efthimios DardiotisFaculty of Medicine School of Health Sciences, Department of Neurology, University Hospital of Larissa, University of Thessaly, Larissa, Greece,

Henry HouldenDepartment of Molecular Neuroscience, UCL Institute of Neurology, London, UK,

Georgios M. HadjigeorgiouFaculty of Medicine School of Health Sciences, Department of Neurology, University Hospital of Larissa, University of Thessaly, Larissa, Greece, ;Department of Neurology, Medical School, University of Cyprus, Nicosia, Cyprus

Georgia XiromerisiouFaculty of Medicine School of Health Sciences, Department of Neurology, University Hospital of Larissa, University of Thessaly, Larissa, Greece, Correspondence[email protected]

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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.

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

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

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