C9orf72 hexanucleotide repeat expansion found in suspected spinobulbar muscular atrophy (SBMA).
Wiktoria RadziwonikEwelina Elert-DobkowskaFilip TomczukAleksandra WozniakAnna SobanskaIwona StepniakDariusz KoziorowskiJacek ZarembaAnna SułekPublished in: Neurologia i neurochirurgia polska (2022)
This is the first report revealing the presence of C9orf72 expansion in patients with a suspected SBMA diagnosis. Consequently, we advise testing for C9orf72 expansion in patients presenting with the SBMA phenotype and a genetically unsolved diagnosis.