Analysis and occurrence of biallelic pathogenic repeat expansions in RFC1 in a German cohort of patients with a main clinical phenotype of motor neuron disease

Biallelic pathogenic repeat expansions in RFC1 are linked to neurodegenerative disorders, but not historically to motor neuron disease (MND). Here, nanopore data revealed that 3% of 107 MND patients had these pathogenic variants, suggesting MND should fall within the RFC1 spectrum disorder. Nanopore sequencing offered ‘… an unbiased approach to adequately capture and understand the complex genetics of RFC1 spectrum disorder.’