Sensory neuropathy due to RFC1 in a patient with ALS: more than a coincidence?

Acknowledging previous reports with abnormal findings in sensory nerve conduction studies in up to 20% of patients with ALS [[6]] and earlier morphological findings in sensory nerve biopsies suggesting loss of sensory root ganglion neurons [[7]], an involvement of pathological I RFC1 i expansions as additional monogenic form or at least genetic risk factor for ALS might be discussed. However, one must admit, that we cannot differentiate an association of pathological I RFC1 i expansions with a combined phenotype of ALS and sensory neuro(no)pathy in our patient from a bare coincidence of ALS with a beginning CANVAS phenotype due to I RFC1 i pathology. In conclusion, the presented case with a concomitant sensory neuro(no)pathy and proven I RFC1 i expansion in addition to ALS should prompt a more systematical search for I RFC1 i expansion in larger patient cohorts with ALS and unexplained sensory involvement in order to disentangle a possible role of I RFC1 i pathology in ALS. [Extracted from the article]